Molecular Tests (Ordered by Disease)

分子检测(按疾病排序)

除comment列中有特别标记的分子分析外,检测的主要是编码蛋白质序列。

提示:如果在按字母排序的列表中,没有找到你感兴趣的疾病或基因,你可以使用Ctrl-F键搜索整个列表

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z


#

Disease
Disease OMIM
Gene
Gene OMIM
Comment
11-@BETA-HYDROXYLASE DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY    
11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2   See CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY    
17q21.31 MICRODELETION SYNDROME . 

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   
157140 Deletions

17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY
» PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
» POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
» 17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS

264300

HSD17B3 (17-@BETA HYDROXYSTEROID DEHYDROGENASE 3, ESTRADIOL 17-BETA-DEHYDROGENASE,EDH17B3)

605573  
17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS   See http://www.genomed.org/Clinical_Testing/tests_tab101.html#264300    
18-@HYDROXYLASE DEFICIENCY   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY    
21-ALPHA-HYDROXYLASE DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1    
22q11.2 DELETION SYNDROME . See DIGEORGE SYNDROME, DGS .  
2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY 300438 HADH2 (HYDROXYACYL-CoA DEHYDROGENASE TYPE 2, AMYLOID BETA-BINDING POLYPEPTIDE, ERAB, 2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE) 300256  
2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD
  See 2-ALPHA-METHYLBUTYRYLGLYCINURIA    

2-ALPHA-METHYLBUTYRYLGLYCINURIA
» 2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD

600301

ACADSB (ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN)

600301

 
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
» HADH DEFICIENCY
» SCHAD DEFICIENCY
231530 HADH (3-@HYDROXYACYL-CoA DEHYDROGENASE, HADSC, SCHAD) 601609   
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 1
210200 MCCC1 (3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCA) 609010  
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 2
210210 MCCC2 (3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCB)  609014  

3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1
» 3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY

250950

AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA-METHYLGLUTACONYL -CoA HYDRATASE)

600529

.

3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY   See 3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1    
  


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

A

Disease
Disease OMIM
Gene
Gene OMIM
Comment

AARSKOG SYNDROME
» FACIODIGITOGENITAL SYNDROME

FGD1
 
ABETALIPOPROTEINEMIA
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
» MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
» MTP DEFICIENCY
200100 MTP 157147 . 
ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE   See HYPOBETALIPOPROTEINEMIA, FAMILIAL    
AB VARIANT GM2-GANGLIOSIDOSIS   See TAY-SACHS DISEASE, AB VARIANT    
ACAD8 DEFICIENCY .  See ISOBUTYRYL GLYCINURIA    
ACAMPOMELIC CAMPOMELIC DYSPLASIA . See CAMPOMELIC DYSPLASIA    
ACANTHOCYTOSIS
.
SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270  
See ABETALIPOPROTEINEMIA    
ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY
115500 CAT (CATALASE) 115500  
ACATALASIA   See ACATALASEMIA    

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA
» ACHALASIA-ALACRIMA SYNDROME

231550

AAAS (ALADIN, ADRACALIN)

605378  
ACHALASIA-ALACRIMA SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ACHONDROGENESIS, BRAZILIAN TYPE
.
 
 
ACHONDROGENESIS, FRACCARO TYPE    See ACHONDROGENESIS TYPE 1B    
ACHONDROGENESIS TYPE 1B
» ACHONDROGENESIS, FRACCARO TYPE 
600972 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718  
ACHONDROGENESIS, TYPE 2
COL2A1
 
ACHONDROPLASIA
FGFR3
2 Mutations:
G380R, G375C
ACHROMATOPSIA, INCOMPLETE (X-LINKED)   See CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1    
ACID ALPHA-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2    
ACID MALTASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2    
ACOUSTIC NEURINOMA . See NEUROFIBROMATOSIS TYPE 2, NF2 .  
ACOUSTIC SCHWANNOMAS, BILATERAL . See NEUROFIBROMATOSIS TYPE 2, NF2 .  

ACROCALLOSAL SYNDROME
» SCHINZEL ACROCALLOSAL SYNDROME

200990

GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) 165240  Deletions

ACROCAPITOFEMORAL DYSPLASIA, ACFD

607778

IHH (INDIAN HEDGEHOG)

600726

.

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
» ADULT SYNDROME

P63 (TP63)
Exons 5-8, 13 and 14
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE
101900 ATP2A2 (ATP2B, SERCA2) 108740  
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)
 
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
» ST. HELENA DYSPLASIA
602875 NPR2 (NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B, ANPRB) 108961  
ACRORENOOCULAR SYNDROME   See DUANE-RADIAL RAY SYNDROME    
ACTH DEFICIENCY 201400

TBX19 (T-BOX 19, T-BOX FACTOR, PITUITARY)

604614  
ACTH RESISTANCE   See GLUCOCORTICOID DEFICIENCY 1    
ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ACTIN MYOPATHY
ACTA1 (ACTIN)
 
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY 201475

ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD)

609575  .
ADCA
.
 
 

ADDISON DISEASE (X-LINKED)
» ADRENAL HYPOPLASIA, CONGENITAL
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM

DAX1  (NROB1)
 
ADDISONIAN-ACHALASIA SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ADENOCARCINOMA OF LUNG, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757  
ADENOMATOUS POLYPOSIS COLI
.
 
 
ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM
103050 ADSL (ADENYLOSUCCINATE LYASE) 103050 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
ADHALINOPATHY, PRIMARY . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . .
ADRENAL HYPOPLASIA, CONGENITAL
.
 
 
ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
  See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY    

ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1
» 21-ALPHA-HYDROXYLASE DEFICIENCY
» CYP21 DEFICIENCY

201910

CYP21A2 201910

Whole Gene and MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY
» ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES
» MALE PSEUDOHERMAPHRODITISM DUE TO MULTIPLE MICROSOMAL MIXED FUNCTION OXIDASE DEFICIENCY
201750 POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015  
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY    
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY
202010 CYP11B1 (CYTOCHROME P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE, P450C11) 610613  Whole Gene or CYP11B1/
CYP11B2 fusion
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY
202010 CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)
124080   
ADRENAL HYPERPLASIA, HYPERTENSIVE FORM   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY    
ADRENAL UNRESPONSIVENESS TO ACTH   See GLUCOCORTICOID DEFICIENCY 1    
ADRENOLEUKODYSTROPHY, ALD 300100 ABCD1 300371 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM, NALD 202370 PEX2, PEX10, PEX12 and PEX26    PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3)

PEX1 (PEROXISOME BIOGENESIS FACTOR 1)

602136 Exons 13 and 15
ADRENOMYELONEUROPATHY, AMN   See ADRENOLEUKODYSTROPHY, ALD    
ADULT LACTASE DEFICIENCY   See LACTOSE INTOLERANCE    
ADULT POLYCYSTIC KIDNEYS, PKD, ADPKD
» POTTER TYPE 3 POLYCYSTIC KIDNEY DISEASE
173900 PKD1 (POLYCYSTIN 1)
AND
PKD2 (POLYCYSTIN 2)
601313
AND
173910
2 Genes
ADULT SYNDROME
.
 
 

AFIBRINOGENEMIA
» DYSFIBRINOGENEMIA

FGA (FIBRINOGEN ALPHA)
 
FGB (FIBRINOGEN BETA)
 
FGG (FIBRINOGEN GAMMA)
 
All 3 Genes: FGA, FGB and FGG
   
AGAMMAGLOBULINEMIA, NON-BRUTON TYPE (AUTOSOMAL RECESSIVE)

601495

IGHM (IMMUNOGLOBULIN MU) 147020   

AGAMMAGLOBULINEMIA (X-LINKED), XLA
» BRUTON AGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA (X-LINKED)

BTK (BRUTON TYROSINE KINASE, ATK, BPK)
 

AICARDI-GOUTIERES SYNDROME 1
» ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
» CREE ENCEPHALITIS
» PSEUDO-TORCH SYNDROME
» PSEUDOTOXOPLASMOSIS SYNDROME

225750

TREX1 (3-PRIME @REPAIR EXONUCLEASE 1, ATRIP)

606605  
AICARDI-GOUTIERES SYNDROME 2 610181 RNASEH2B (RIBONUCLEASE H2, SUBUNIT B) 610326  
AICARDI-GOUTIERES SYNDROME 3 610329 RNASEH2C (RIBONUCLEASE H2, SUBUNIT C) 610330  
AICARDI-GOUTIERES SYNDROME 4 610333 RNASEH2A (RIBONUCLEASE H2, LARGE SUBUNIT) 606034  
ALACRIMA-ACHALASIA-ADDISONIANISM   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ALAGILLE SYNDROME
JAG1 (JAGGED1)
 
ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 1    
AL-AWADI/RAAS-ROTHSCHILD SYNDROME   See ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY    
ALBERS-SCHONBERG DISEASE (AUTOSOMAL RECESSIVE) . See OSTEOPETROSIS (AUTOSOMAL RECESSIVE) .  

ALBINISM, OCULAR, TYPE 1, OA1
» NETTLESHIP-FALLS TYPE OCULAR ALBINISM

 300500 OA1

300500 

 
ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)    
ALBRIGHT HEREDITARY OSTEODYSTROPHY
» PSEUDOHYPOPARATHYROIDISM, TYPE 1A
» PSEUDOHYPOPARATHYROIDISM, TYPE 1C
» PSEUDOPSEUDOHYPOPARATHYROIDISM
103580 GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) 139320  
ALBRIGHT SYNDROME . See MCCUNE-ALBRIGHT SYNDROME .  
ALDOLASE B DEFICIENCY   See FRUCTOSE INTOLERANCE    
ALDOSTERONE DEFICIENCY 1   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY    
ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY    
ALEXANDER DISEASE 203450

GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN)

137780  
ALLGROVE SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ALPHA-1,4-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2    
ALPHA HAEMOGLOBINOPATHIA
» ALPHA THALASSEMIA
141800 HBA 1 and HBA 2 (ALPHA GLOBIN)
141800 Whole Gene (both HBA1 and HBA2) or Deletion Analysis (MLPA)
ALPHA-L-FUCOSIDASE DEFICIENCY   See FUCOSIDOSIS    
ALPHA THALASSEMIA
. See ALPHA HAEMOGLOBINOPATHIA . .
ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)
» ATR-X SYNDROME
» XLMR-HYPOTONIC FACE SYNDROME
» MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
301040 ATRX (XNP) 300032 Blood in RNA PAX tubes

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
» ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
» ALPERS SYNDROME
» ALPERS-HUTTENLOCHER SYNDROME
» NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE

203700 POLG (POLYMERASE, DNA, GAMMA) 174763 .
ALPERS-HUTTENLOCHER SYNDROME   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS    
ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS    
ALPERS SYNDROME   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS    
See PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL RECESSIVE)    
ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 COL4A3  120070  .  
COL4A4  120131 .  
ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS   See ALPORT SYNDROME (X-LINKED)    
ALPORT SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS

301050

COL4A5 303630 .  
ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA   See FECHTNER SYNDROME    
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA   See EPSTEIN SYNDROME    
ALSTROM SYNDROME, ALMS 203800 ALMS1 606844  Exons 10, 16, and part of Exon 8
ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1
APP
Whole Gene or Exons 16 and 17 harbouring the majority of mutations

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3

607822

PSEN1 (PRESENILIN 1, PS1)

104311

 

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4

606889

PSEN2 (PRESENILIN 2, PS2)

600759

 
AMAUROSIS CONGENITA OF LEBER 3   See LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3    
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, CAMT
MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR)
 
AMYLO-1,6-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 3    

AMYLOID POLYNEUROPATHY
» AMYLOIDOSIS 1

TTR  (TRANSTHYRETIN)
Exons 2-4
AMYLOIDOSIS 1
.
 
 
AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY .. See CEREBRAL AMYLOID ANGIOPATHY    
AMYLOIDOSIS, CEREBROARTERIAL
.
 
 
AMYLOIDOSIS, FAMILIAL VISCERAL
» AMYLOIDOSIS 8
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL
105200 FGA  (FIBRINOGEN ALPHA) 134820  
AMYLOIDOSIS, FAMILIAL RENAL   See AMYLOIDOSIS, FAMILIAL VISCERAL    
AMYLOIDOSIS 8   See AMYLOIDOSIS, FAMILIAL VISCERAL    
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, ALS4
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
602433 SETX (SENATAXIN) 608465  

AMYOTROPHIC LATERAL SCLEROSIS, ALS
» LOU GEHRIG'S DISEASE

SOD1
 
AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, FALS, ALS1 105400

ANG (ANGIOGENIN, RNASE5)

105850  

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
» ANDERSEN SYNDROME LONG QT SYNDROME 7, LQT7
» PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
» ANDERSEN-TAWIL SYNDROME

170390 KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1) 600681  
ANDERSEN SYNDROME
LONG QT SYNDROME 7, LQT7
  See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS    
ANDERSEN-TAWIL SYNDROME   See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS    
ANDROGEN INSENSITIVITY SYNDROME, AIS
AR (ANDROGEN RECEPTOR)
.
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1
224120 CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
607465   
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 301310

ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7)

300135 .
ANGELMAN SYNDROME, AS
UBE3A
Whole Gene or
IC Deletion or
Methylation
ANGELMAN SYNDROME, ATYPICAL 105830 CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)    

ANGIOEDEMA
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA

C1NH (C1 ESTERASE INHIBITOR, SERPING 1)
 

ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA, ANHIDROTIC ECTODERMAL DYSPLASIA 3

EDAR (ECTODYSPLASIN 1)
 
ANIRIDIA, TYPE 2, AN2
PAX6 (PAIRED BOX GENE 6)
Whole Gene or Deletion Analysis (MLPA)

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE
» HAY-WELLS SYNDROME

P63 (TP63)
Exons 5-8, 13 and 14
ANOPHTHALMIA, ANOP3 206900 SOX2 (SRY-BOX 2)
184429  
ANOPHTHALMIA WITH PITUITARY MALFORMATION . SIX6
 
607257   
ANOSMIC HYPOGONADISM   See KALLMANN SYNDROME, TYPE 1, KAL1    
ANTENATAL BARTTER SYNDROME, TYPE 2
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2
» HYPERPROSTAGLANDIN E SYNDROME, TYPE 2
241200 KCNJ1 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1, KIR1.1, ROMK1) 600359  
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS   FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) 601090  
ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3
107300 AT3 (SERPINC1)

107300

 
ANTITRYPSINE DEFICIENCY, AAT
PI (ANTITRYPSINE, PROTEASE INHIBITOR)
Alleles M, S and Z
ANTLEY-BIXLER SYNDROME
» TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
» MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
» OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
207410 POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015  
ANTOPOL DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 2B    
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES   See TOWNES-BROCKS SYNDROME    
AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS   See AORTIC ANEURYSM, FAMILIAL THORACIC 4    

AORTIC ANEURYSM, FAMILIAL THORACIC 4
» AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS

132900 MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) 160745  
AO TYPE 2   See ATELOSTEOGENESIS TYPE 2    
APERT SYNDROME
» CRANIOSYNOSTOSIS, APERT SYNDROME
FGFR2
2 Mutations: S252W, P253R
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA    
APLASTIC ANEMIA
.
TERC (TELOMERASE RNA COMPONENT)
 
APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE   See HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B    
APOLIPOPROTEIN B DEFICIENCY   See ABETALIPOPROTEINEMIA    
APOLIPOPROTEIN C2 DEFICIENCY   See HYPERCHYLOMICRONEMIA    
APOLIPOPROTEIN E DEFICIENCY   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E    
APPARENT MINERALOCORTICOID EXCESS   See CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY    
ARGININOSUCCINATE SYNTHETASE DEFICIENCY   See CITRULLINEMIA, CLASSIC    

AROMATASE DEFICIENCY
» PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY

107910

CYP19A1 (AROMATASE) 107910 Sequence analysis of exons 9 and 10, including the following common mutations:
Arg365Gln
Val370Met
Arg375Cys
Arg435Cys
Cys437Tyr
Arg457Term
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 2   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2    
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9, ARVD9    
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 2
600996 RYR2 (RYANODINE RECEPTOR 2) 180902  

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9, ARVD9
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9

609040

PKP2 (PLAKOPHILIN 2)

602861  

ARTERIAL TORTUOSITY SYNDROME, ATS

208050 SLC2A10 (SOLUTE CARRIER FAMILY 2 - FACILITATED GLUCOSE TRANSPORTER, MEMBER 10, GLUCOSE TRANSPORTER 10, GLUT10) 606145  

ARTHROGRYPOSIS, DISTAL, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1

108120

TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN)

190990  

ARTHROGRYPOSIS, DISTAL, TYPE 2A
» FREEMAN-SHELDON SYNDROME
» WHISTLING FACE-WINDMILL VANE HAND SYNDROME
» CRANIOCARPOTARSAL DYSTROPHY

193700

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

160720 All 39 Exons or Exons 5, 14, 15, 17, 21 or Exons 17 and 21

ARTHROGRYPOSIS, DISTAL, TYPE 2B
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES

 601680

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

160720 All 39 Exons or Exons 5, 14, 15, 17, 21 or Exons 17 and 21

TNNI2 (TROPONIN 1, FAST-TWITCH SKELETAL MUSCLE ISOFORM)

191043  

TNNT3 (TROPONIN T3, FAST SKELETAL)

600692  
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1   See ARTHROGRYPOSIS, DISTAL, TYPE 1    
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES   See ARTHROGRYPOSIS, DISTAL, TYPE 2B    
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B   See ARTHROGRYPOSIS, DISTAL, TYPE 2B    

ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
» SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
»  PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA

208230

WISP3 (WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3)

603400  
ARYLSULFATASE A DEFICIENCY   See METACHROMATIC LEUKODYSTROPHY    
ARYLSULFATASE B DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6    
ASPERGER SYNDROME (X-LINKED) 300494 NLGN3 (NEUROLIGIN 3) 300336 .
NLGN4 (NEUROLIGIN 4) . .
NLGN3 AND NLGN4 . .
ASYMMETRIC SEPTAL HYPERTROPHY   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL    
ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA    
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY   TTPA (TOCOPHEROL TRANSFER PROTEIN, ALPHA, TTP1) 600415  
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
» ATAXIA-OCULOMOTOR APRAXIA SYNDROME
» ATAXIA-OCULOMOTOR APRAXIA 1
» ATAXIA-TELANGIECTASIA-LIKE SYNDROME
» CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
» ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
208920 APTX (APRATAXIN)
606350   
ATAXIA, EPISODIC, WITH MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1    
ATAXIA, EPISODIC, WITH NYSTAGMUS   See EPISODIC ATAXIA, TYPE 2, EA2    
ATAXIA, FRIEDREICH
.
 
 
ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM   See PYRUVATE DECARBOXYLASE DEFICIENCY    
ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR DECARBOXYLASE, DEFICIENCY   See PYRUVATE DECARBOXYLASE DEFICIENCY    
ATAXIA-OCULOMOTOR APRAXIA 1   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA    
ATAXIA-OCULOMOTOR APRAXIA 2   See SPINOCEREBELLAR ATAXIA (AUTOSOMAL RECESSIVE), 1    
ATAXIA-OCULOMOTOR APRAXIA SYNDROME   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA    
ATAXIA, SPINOCEREBELLAR
.
 
 

ATAXIA-TELANGIECTASIA, AT
» LOUIS-BAR SYNDROME

208900

ATM

607585

.

ATAXIA-TELANGIECTASIA-LIKE SYNDROME   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA    
ATAXIA WITH LACTIC ACIDOSIS I
LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
  See PYRUVATE DECARBOXYLASE DEFICIENCY    
ATELIOTIC DWARFISM WITH HYPOGONADISM   See PITUITARY DWARFISM 3    
ATELOSTEOGENESIS, TYPE 1
» GIANT CELL CHONDRODYSPLASIA
» SPONDYLOHUMEROFEMORAL HYPOPLASIA
108720 FLNB (FILAMIN B) 663381  
ATELOSTEOGENESIS, TYPE 2
» AO TYPE 2
»
DE LA CHAPELLE DYSPLASIA
»  NEONATAL OSSEOUS DYSPLASIA 1
256050 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718  
ATELOSTEOGENESIS, TYPE 3 108721 FLNB (FILAMIN B) 663381  
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

600584  
ATRIOVENTRICULAR BLOCK, IDIOPATHIC SECOND-DEGREE . 

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

600584  
ATROPHIA BULBORUM HEREDITARIA   See NORRIE DISEASE    
ATR-X SYNDROME   See ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)    
ATTENUATED POLYPOSIS COLI
.
 
 

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

 209950

IFNGR1 and IFNGR2

   

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

 
107470  

IFNGR2 (INTERFERON, GAMMA, RECEPTOR 2)

147569  
AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1   See DEAFNESS, DFNB9    
AUTISM (X-LINKED)
300425 NLGN3 (NEUROLIGIN 3)
300336 .
NLGN4 (NEUROLIGIN 4) . .
NLGN3 AND NLGN4 . .

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B
» CANALE-SMITH SYNDROME

 601859 CASP8 (CASPASE 8, FLICE, MCH5) 601763  

TNFRSF6 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6, APT1, FAS)

134637 Exons 7-9 (Majority of Mutations)
or
Exons 1-6
or
Whole Gene
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 603909 CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) 601762  
AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1    
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1
» AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED
» AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1
» HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS
» POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE
240300 AIRE (AUTOIMMUNE REGULATOR) 607358

Whole Gene
or
2 Common Mutations: R257X and 1094DEL13

AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1    
AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX    
AUTOSOMAL RECESSIVE
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A / 1B
  See PITUITARY DWARFISM 1    
AXENFELD-RIEGER SYNDROME   See RIEGER SYNDROME, TYPE 1, RIEG1    

AZOSPERMIA-OLIGOSPERMIA
» SERTOLI-CELL-ONLY SYNDROME
» MALE INFERTILITY

AZFa, AZFb and AZFc (including DAZ)
Deletions
  


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

B

Disease Disease OMIM Gene Gene OMIM

Comment

BALLER-GEROLD SYNDROME
» CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
» CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME

218600 RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ-LIKE, TYPE 4 ) 603780  

BAMFORTH-LAZARUS SYNDROME
» HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

241850

FOXE1 (FORKHEAD BOX E1, THYROID TRANSCRIPTION FACTOR 2, TTF2, TITF2)

602617  
BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME 153480 PTEN 601728  
BARDET-BIEDL SYNDROME TYPE 1, BBS1 209900 BBS1 209901   
BARDET-BIEDL SYNDROME TYPE 2, BBS2  209900 BBS2 606151   
BARTH SYNDROME 302060 TAZ (TAFAZZIN) 300394  
BARTTER SYNDROME, CLASSIC   See BARTTER SYNDROME, TYPE 3    

BARTTER SYNDROME, ANTENATAL, TYPE 1
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 1
» HYPERPROSTAGLANDIN E SYNDROME 1

601678

SLC12A1 (SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1, SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2, NKCC2)

600839  
BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS   See BARTTER SYNDROME, TYPE 4    
BARTTER SYNDROME, TYPE 3
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
607364 CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023  
BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA   See BARTTER SYNDROME, TYPE 3    
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
602522 BSND (BARTTIN) 606412  
CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) 602024  
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023  

BASAL CELL NEVUS SYNDROME
» GORLIN SYNDROME

109400 PTCH (PATCHED, PTC) 601309  

BASAL GANGLIA DISEASE, ADULT-ONSET
» NEUROFERRITINOPATHY

606159 FTL (FERRITIN LIGHT CHAIN) 134790  
BASSEN-KORNZWEIG SYNDROME   See ABETALIPOPROTEINEMIA    
BATTEN DISEASE . See CEROID LIPOFUCSINOSIS, CLN3    
BCG AND SALMONELLA INFECTION, DISSEMINATED   See ATYPICAL MYCOBACTERIOSIS, FAMILIAL    
BEALS SYNDROME   See CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA    
BEARE-STEVENSON CUTIS GYRATA
» CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA
123790 FGFR2 176943  
BECKER MYOTONIA . See MYOTONIA CONGENITA    
BECKER MUSCULAR DYSTROPHY, BMD
» MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY
300376 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA)

BECKWITH-WIEDEMANN SYNDROME, BWS
» EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

130650

CDKN1C (CYCLIN-DEPENDENT KINASE INHIBITOR 1C, p57-KIP2)

600856  
KCNQ1OT1 and H19 604115
and
103280
  
KCNQ1OT1 and H19 Imprinting
BERNARD-SOULIER SYNDROME   See GIANT PLATELET SYNDROME    
BEST MACULAR DYSTROPHY   See MACULAR DYSTROPHY, VITELLIFORM, VMD    
BETA-GALACTOSIDASE-1 DEFICIENCY,
GLB1 DEFICIENCY

» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1
» MORQUIO DISEASE, TYPE B
» MUCOPOLYSACCHARIDOSIS TYPE 4B, MPS 4B
230500 GLB1 (GALACTOSIDASE, BETA-1)  230500 . 

BETA HAEMOGLOBINOPATHIA
» BETA THALASSEMIA

141900 HBB (BETA GLOBIN) 141900  
BETA-MANNOSIDASE DEFICIENCY   See MANNOSIDOSIS, BETA A, LYSOSOMAL    
BETA THALASSEMIA . See BETA HAEMO-GLOBINOPATHIA    
BFNC/MYOKYMIA SYNDROME   See MYOKYMIA WITH NEONATAL EPILEPSY    
BILATERAL ACOUSTIC NEUROFIBROMATOSIS . See NEUROFIBROMATOSIS TYPE 2, NF2 .  
BILATERAL PERIVENTRICULAR HETEROTOPIA   See HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)    
BIODEFECTIVE GROWTH HORMONE   See PITUITARY DWARFISM 4    

BIOTINIDASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
» MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
» BTD DEFICIENCY

253260

BTD (BIOTINIDASE)

609019 

8 Mutations: D444H, A171T, F403V, G98, 7-BP DEL/3-BP INS, Q456H, R157H, R538C, D252G, Detecting 60% of all BTD Mutations

BIRT-HOGG-DUBE SYNDROME, BHD
» FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS
135150 FLCN (FOLLICULIN, FLCL)
607273  
BLADDER CANCER, TRANSITIONAL CELL   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070  
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES 110100 FOXL2 605597  
BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS . See FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3 . .

BLOCH-SULZBERGER DISEASE
» INCONTINENTIA PIGMENTI

308300 IKBKG (NEMO) 300248 Whole Gene or 1 Mutation: Exon 4-10 Deletion

BLOOM SYNDROME
» (See also Molecular Screening Tests)

210900 RECQL3 (RECQ2) 604610 1 Mutation: 6del/7ins
BOOMERANG DYSPLASIA 112310 FLNB (FILAMIN B) 663381  
BOR SYNDROME . See BRANCHIO-OTO-RENAL SYNDROME    
BORDERLINE SMEI (SMEIB)   SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 .  
BRACHMANN-DE LANGE SYNDROME   See CORNELIA DE LANGE SYNDROME    

BRACHYDACTYLY TYPE A1, BDA1
» FARABEE TYPE BRACHYDACTYLY

112500

IHH (INDIAN HEDGEHOG)

600726

.

BRACHYDACTYLY TYPE A2, BDA2
» BRACHYMESOPHALANGY 2
» MOHR - WRIEDT TYPE BRACHYDACTYLY

112600

BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6)

603248

.

BRACHYDACTYLY, TYPE B, BDB 113000 ROR2 (NTRKR2) 602337 Exons 8 and 9

BRACHYDACTYLY, TYPE C
» BRACHYDACTYLY, HAWS TYPE

113100 GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) 601146  

BRACHYDACTYLY TYPE D, BDD

113200

HOXD 13 (HOMEOBOX D13)

142989

.

BRACHYDACTYLY TYPE E, BDE

113300

HOXD 13 (HOMEOBOX D13)

142989

.

BRACHYMESOPHALANGY 2

.

See BRACHYDACTYLY A2, BDA2

.

.

BRAIN-BONE-FAT DISEASE   See PRESENILE DEMENTIA WITH BONE CYSTS    
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY   See MAPLE SYRUP URINE DISEASE    
BRANCHED-CHAIN KETOACIDURIA   See MAPLE SYRUP URINE DISEASE    
BRANCHIO-OTO-RENAL SYNDROME, BOR 113650 EYA1 601653  
BREAST AND OVARIAN CANCER . BRCA1 113705 Whole Gene (sequencing and MLPA)
BRCA2 600185 Whole Gene (sequencing and MLPA) or
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)
BRCA1 and BRCA2   2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year

BREAST CANCER, FAMILIAL

 114480 CHEK2 (CHECKPOINT KINASE 2) 604373 Whole Gene or *1100delC
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070  
P53 (TP53) 191170

Whole Gene or Exons 5-8

BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION   See RUBINSTEIN-TAYBI SYNDROME    
BROAD THUMB-HALLUX SYNDROME   See RUBINSTEIN-TAYBI SYNDROME    
BROCQ SYNDROME . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL    
BROWN OCULOCUTANEOUS ALBINISM, BOCA   See OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE)    
BRUGADA SYNDROME 601144 SCN5A 600163 See also LONG QT SYNDROME
BTD DEFICIENCY   See BIOTINIDASE DEFICIENCY    
BULL'S EYE MACULAR DYSTROPHY   See MACULAR DYSTROPHY, CONCENTRIC ANNULAR    
BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY   See KINDLER SYNDROME    
BUPHTHALMOS . See GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A . .
BUSCHKE-OLLENDORFF SYNDROME
» DERMATOOSTEOPOIKILOSIS
» DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS
» DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS
» OSTEOPATHIA CONDENSANS DISSEMINATA
» OSTEOPOIKILOSIS, ISOLATED, INCLUDED
166700 LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) 607844  
BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM   See PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM    
BYLER DISEASE . See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 . .
 


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

C

Disease Disease OMIM Gene Gene OMIM

Comment

CACA   See CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED    
CACT DEFICIENCY   See CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY    
CADASIL . See CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKO-ENCEPHALOPATHY    

CAMPOMELIC DYSPLASIA
» ACAMPOMELIC CAMPOMELIC DYSPLASIA

114290

SOX9 (SRY-BOX 9)

608160  
CAMURATI-ENGELMANN DISEASE
» DIAPHYSEAL DYSPLASIA 1
131300 TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, BETA-1)
190180 Whole Gene or Exon 24
CANALE-SMITH SYNDROME   See AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, ALPS    

CANAVAN DISEASE
» (See also Molecular Screening Tests)

271900 ASPA (ASPARTOACYLASE) 271900 3 Mutations:
E285A, A305E, Y231X
CANCER (SOMATIC MUTATIOS) .

CDH1 (CADHERIN 1, UVOMORULIN)

  
192090  
CARBONIC ANHYDRASE 2 DEFICIENCY   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS    
CARDIAC MYXOMA 255960 PRKAR1A 188830  

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
» CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY

604377 SCO2 604272  
CARDIOFACIOCUTANEOUS SYNDROME, CFC
» CFC SYNDROME
115150 BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757  
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070  

MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1)

176872  Whole Gene or Exons 2 and 3

MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2)

601263  Whole Gene or Exons 2 and 3 (6% of CFC cases)
CARDIOMEGALIA GLYCOGENICA DIFFUSA   See GLYCOGEN STORAGE DISEASE, TYPE 2    
CARDIOMYOPATHY, DILATED, 1G, CMD1G 604145 TTN (TITIN, CONNECTIN ) 188840 Exons 212-213
CARDIOMYOPATHY, DILATED, TYPE 1S 160760

MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA)

160760 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8    
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 188840 TTN (TITIN, CONNECTIN ) 188840 Exons 212-213
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME 600858 PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)
602743  
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 115210 TNNI3 (TROPONIN I, CARDIAC) 191044  See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10    
CARMI SYNDROME   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA    

CARNEY COMPLEX, TYPE 1
» PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

160980 PRKAR1A 188830  

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
» CACT DEFICIENCY

212138

SLC25A20 (SOLUTE CARRIER FAMILY 25, MEMBER 20, CARNITINE-ACYLCARNITINE TRANSLOCASE,
CARNITINE-ACYLCARNITINE CARRIER)

212138  .
CARNITINE DEFICIENCY, PRIMARY   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY    
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY    

CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
» SYSTEMIC CARNITINE DEFICIENCY
» CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
» CARNITINE DEFICIENCY, PRIMARY
» CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
» CARNITINE UPTAKE DEFECT

212140

SLC22A5 (SOLUTE CARRIER FAMILY 22, ORGANIC CATION TRANSPORTER, MEMBER 5, OCTN2)

603377  .

CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY

255120

CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1)

600528  .
CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET    
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE    
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC
600649 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 .
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET
» CPT2 DEFICIENCY, MYOPATHIC
» CPT2 DEFICIENCY, LATE-ONSET
255110 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 .
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL
608836 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 .
CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET    
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL    
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE    
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY    
CARNITINE UPTAKE DEFECT   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY    
CAROLI DISEASE   See POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, ARPKD    

CARTILAGE-HAIR HYPOPLASIA
» METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE

250250 RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) 157660  
CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY   See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS    
CARTILAGE-HAIR HYPOPLASIA VARIANT   See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS    
CASPASE 8 DEFICIENCY 607271 CASP8 (CASPASE 8, FLICE, MCH5) 601763  
CATALASE DEFICIENCY   See ACATALASEMIA    
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY . PAX6 (PAIRED BOX GENE 6) 607108 Whole Gene or Deletion Analysis (MLPA) 
CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED 115700 CRYGD (CRYSTALLIN, GAMMA-D) 123690  
CATARACT-DENTAL SYNDROME   See NANCE-HORAN SYNDROME    
CATARACT, PUNCTATE 123690 CRYGD (CRYSTALLIN, GAMMA-D) 123690  
CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH   See NANCE-HORAN SYNDROME    
CATCH22 . See DIGEORGE SYNDROME, DGS .  
CATLIN MARKS   See PARIETAL FORAMINA, TYPE 1    
  See PARIETAL FORAMINA, TYPE 2    
CAVERNOUS ANGIOMA, FAMILIAL   See CEREBRAL CAVERNOUS MALFORMATIONS, CCM1    
CBAVD . See CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS    
CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED   See SPINOCEREBELLAR ATAXIA 27, SCA27    
CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA    
CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE   See EPISODIC ATAXIA, TYPE 2, EA2    
CEREBELLAR HEMANGIOMA . VHL 193300 Whole Gene or Deletion Analysis (MLPA)
CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
  See EPISODIC ATAXIA, TYPE 2, EA2    

CEREBRAL AMYLOID ANGIOPATHY
» AMYLOIDOSIS, CEREBROARTERIAL
» AMYLOIDOSIS 6
» HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA
» AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY

105150 APP 104760 Whole Gene or Exons 16 and 17 harbouring the majority of mutations
CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL 125310 NOTCH3 600276 Whole Gene
Exons 3 and 4 harboring the majority of mutations
CEREBRAL CAVERNOUS MALFORMATIONS, CCM .

CCM1,
CCM2 and
PDCD10

Analysis of 3 Genes

CEREBRAL CAVERNOUS MALFORMATIONS, CCM1
» CAVERNOUS ANGIOMA, FAMILIAL
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS

116860

CCM1 (KREV INTERACTION TRAPPED 1, KRIT1)

604214 See also CCM1,
CCM2 and
PDCD10
CEREBRAL CAVERNOUS MALFORMATIONS 2, CCM2 603284

CCM2 (CHROMOSOME 7 OPEN READING FRAME 22, C7ORF22,MALCAVERNIN,
MGC4067)

607929 See also CCM1,
CCM2 and
PDCD10
CEREBRAL CAVERNOUS MALFORMATIONS 3, CCM3 609118

PDCD10 (PROGRAMMED CELL DEATH 10, TFAR15)

609118 See also CCM1,
CCM2 and
PDCD10
CEREBRAL CHOLESTERINOSIS   See CEREBROTENDINOUS XANTHOMATOSIS, CTX    

CEREBRAL GIGANTISM
» SOTOS SYNDROME

117550 NSD1 606681 At least 20mg DNA is needed 
CEREBROHEPATORENAL SYNDROME   See ZELLWEGER SYNDROME    

CEREBROTENDINOUS XANTHOMATOSIS, CTX
» CEREBRAL CHOLESTERINOSIS

213700 CYP27A1 606530  

CEROID LIPOFUCSINOSIS, CLN1
» SANTAVUORI DISEASE

256730 CLN1 (PALMITOYL-PROTEIN ESTERASE, PPT) 600722  

CEROID LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE

204500 CLN2 204500 Whole Gene or 2 Common Mutations: R208X and IVS5-1G>C 

CEROID LIPOFUCSINOSIS, CLN3
» VOGT-SPIELMEYER DISEASE
» BATTEN DISEASE

204200 CLN3 607042 Whole Gene or Common 1kb Deletion

CEROID LIPOFUCSINOSIS, CLN6
» CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE

601780

CLN6

606725

 
CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE   See CEROID LIPOFUCSINOSIS, CLN6    
CETP DEFICIENCY   See CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY    
CFC SYNDROME   See CARDIOFACIOCUTANEOUS SYNDROME, CFC    

CHANARIN-DORFMAN DISEASE
» ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
» NEUTRAL LIPID STORAGE DISEASE
» ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
» TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION

275630

CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5)

604780  
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 118300 PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene or
Duplication
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 1D, CMT1D 607678 EGR2 (EARLY GROWTH RESPONSE 2) 129010  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 118210 KIF1B (KINESIN FAMILY MEMBER 1B)
605995   
MFN2 (MITOFUSIN 2) 608507  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B, CMT2B 600882 RAB7 (RAS-ASSOCIATED PROTEIN RAB7)
602298   
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1, CMT2B1 605588 LMNA (LAMIN A/C) 150330  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D, CMT2D 601472 GARS (GLYCYL T RNA SYNTHETASE) 600287  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E, CMT2E 607684 NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280 .  

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I, CMT2I

607677 MPZ  (MYELIN PROTEN ZERO, P0) 159440 .

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J, CMT2J

607736 MPZ  (MYELIN PROTEN ZERO, P0) 159440 .
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, CMT2K 607831 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS (AUTOSOMAL RECESSIVE) 607706 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598  

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1A, HMSN1A

118220 PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene or
Duplication

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B, CMT1B
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1B, HMSN1B

118200 MPZ (MYELIN PROTEN ZERO, P0) 159440  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C, CMT1C, HMSN1C 601098 LITAF (LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR) 603795  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F, CMT1F 607734 NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280 .  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A, CMT4A (AUTOSOMAL RECESSIVE) 214400 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598  

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C, CMT4C (AUTOSOMAL RECESSIVE)

601596

SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2)

68206  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E
» CONGENITAL HYPOMYELINATING NEUROPATHY
605253 EGR2 (EARLY GROWTH RESPONSE 2) 129010  

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
»DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3

 145900 EGR2 (EARLY GROWTH RESPONSE 2) 129010  

PRX (PERIAXIN)

605725

 
MPZ (MYELIN PROTEN ZERO, P0) 159440  
PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D,CMTDID

607791 MPZ  (MYELIN PROTEN ZERO, P0) 159440 .

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX
» HEREDITARY MOTOR AND SENSORY NEUROPATHY (X-LINKED)

302800 GJB1 (CONNEXIN 32, CX32) 304040  
CHARGE SYNDROME 214800

CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7)

608892  
CHERRY RED SPOT--MYOCLONUS SYNDROME   See NEURAMINIDASE DEFICIENCY    

CHERUBISM

118400

SH3BP2

602104

Exon 2

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME

243300

 

ATP8B1 (FIC1)

602397

.

CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
» CETP DEFICIENCY
607322 CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1)

118470

 

CHONDRODYSPLASIA, GREBE TYPE
» ACHONDROGENESIS, BRAZILIAN TYPE
» ACROMESOMELIC DYSPLASIA, GREBE TYPE

200700 GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) 601146  

CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2
» CONRADI-HUNERMANN SYNDROME
» HAPPLE SYNDROME

302960

EBP (EMOPAMIL-BINDING PROTEIN, 3-@BETA-HYDROXYSTEROID-DELTA-8, DELTA-7 ISOMERASE)

300205  
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA   See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1    
CHOREA, HEREDITARY BENIGN 118700   TITF1 (THYROID NUCLEAR FACTOR, NKX2A)
600635   .
CHOREOATHETOSIS, NONKINESIGENIC   See PAROXYSMAL NONKINESIGENIC DYSKINESIA    
CHOROIDAL SCLEROSIS   See CHOROIDEREMIA    

CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS

303100

CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE)

300390  
CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN   See RETINITIS PIGMENTOSA 3, RP3    
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE FORM 233690 CYBA (p22 PHOX) 233690  
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 1 233700 NCF1 (p47 PHOX) 233700  
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 2 233710 NCF2 (p67 PHOX) 233710  
CHRONIC GRANULOMATOUS DISEASE (X-LINKED) 306400 CYBB (p91 PHOX) 306400  
CHRONIC MYELOMONOCYTIC LEUKEMIA (CMML)   JAK2 (JANUS KINASE 2) 147796 1Common Mutation: V617F
CHUVASH POLYCYTHEMIA 263400 VHL 193300 Whole Gene or Deletion Analysis (MLPA)

CINCA SYNDROME
» MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID

607115 CIAS1 (CRYOPYRIN) 606416  
CIRRHOSIS DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY 172471  PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2) 172471   
CITRULLINURIA   See CITRULLINEMIA, CLASSIC    
CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY
215700 ASS (ARGININOSUCCINATE SYNTHETASE) 603470  
CITRULLINEMIA, TYPE 1   See CITRULLINEMIA, CLASSIC    
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE 192090

CDH1 (CADHERIN 1, UVOMORULIN)

  
192090  

CLEIDOCRANIAL DYSPLASIA, CCD 

119600

RUNX 2 (CBFA 1)

600211

.

CLOUSTON SYNDROME
» HYDROTIC ECTODERMAL DYSPLASIA, ED2
» ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME

129500 GJB6 (CONNEXIN 30, CX30) 604418 Whole Gene
COAGULATION FACTOR 11 DEFICIENCY   See PTA DEFICIENCY    
COATS DISEASE 300216 NDP (NORRIN)  310600   
COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A
216400 CKN1 (CSA) 216400   
COCKAYNE SYNDROME, TYPE 2
» COCKAYNE SYNDROME, TYPE B
133540 ERCC6 (CSB)
133540  
COCKAYNE SYNDROME, TYPE A   See COCKAYNE SYNDROME, TYPE 1    
COCKAYNE SYNDROME, TYPE B   See COCKAYNE SYNDROME, TYPE 2    
COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA OF HANDS AND FEET    
COFFIN-LOWRY SYNDROME, CLS 303600 RSK2 (RPS6KA3) 300075  
COHEN SYNDROME, COH1 216550 COH1 607817  Whole Gene or Exon 23, including the “Finnish mutation” (c.3348-3349delCT)

COLD URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME

120100 CIAS1 (CRYOPYRIN) 606416  

COLLODION FETUS
» LAMELLAR ICHTHYOSIS

242300 TGM1 (TRANSGLUTAMINASE) 190195  
COLON, ADENOMATOUS POLYPOSIS . See POLYPOSIS COLI, ADENOMATOUS    
COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) 608456

MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF)

604933   

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1
» LYNCH CANCER FAMILY SYNDROME

114500 MLH1 120436 Whole Gene and MLPA
MSH2 120435 Whole Gene and MLPA
MSH6 600678 Whole Gene and MLPA
MLH1, MSH2 and MSH6  

3 Genes (Whole Gene and MLPA)

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2
» LYNCH CANCER FAMILY SYNDROME

114400 MLH1 120436 Whole Gene and MLPA
MSH2 120435 Whole Gene and MLPA
MSH6 600678 Whole Gene and MLPA
MLH1, MSH2 and MSH6  

3 Genes (Whole Gene and MLPA)

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, HNPCC6 190182 TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 2) 190182 .
COLORECTAL CANCER, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757  
COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1   See HEMOLYTIC-UREMIC SYNDROME, HUS    
COMMON VARIABLE HYPOGAMMAGLOBULINEMIA   See COMMON VARIABLE IMMUNODEFICIENCY    

COMMON VARIABLE IMMUNODEFICIENCY
» COMMON VARIABLE HYPOGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA, ACQUIRED
» IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET

240500

TNFRSF13 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B, TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR, TACI1)

604907  
COMPLEMENT FACTOR 1 DEFICIENCY 217030

IF (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR)

217030  
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY    
COMPLEX 2, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY    
COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY    
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY    
CONE-ROD DEGENERATION (X-LINKED)   See RETINITIS PIGMENTOSA 15, RP15    

CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1
» ACHROMATOPSIA, INCOMPLETE (X-LINKED)

304020

RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) 312610 Exons 1-15 and ORF15
CONE-ROD DYSTROPHY, TYPE 3, CORD3 604116 ABCA4 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4, ABCR) 601691  
CONE-ROD DYSTROPHY, TYPE 9, CORD9 608194 RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) 605446  

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME
» ONDINE CURSE
» ONDINE-HIRSCHSPRUNG DISEASE
» HADDAD SYNDROME

209880

PHOX2B

603851

.

. 
CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD 277180 CFTR 602421 Whole Gene or
Mutations Kit or MLPA
CONGENITAL HEART DISEASE (X-LINKED) . ZIC3  300265 .
CONGENITAL HYPOMYELINATING NEUROPATHY   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E    
CONGENITAL LIPOMATOSIS OF PANCREAS   See SHWACHMAN-DIAMOND SYNDROME, SDS    
CONGENITAL NEUTROPENIA   See NEUTROPENIA, SEVERE CONGENITAL, SCN    
CONOTRUNCAL ANOMALY FACE SYNDROME
» DOUBLE-OUTLET RIGHT VENTRICLE
» TRUNCUS ARTERIOSUS COMMUNIS
217095 TBX1 (T-BOX 1) 602054  
CONRADI-HUNERMANN SYNDROME   See CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2    
CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY   See EPISODIC ATAXIA, TYPE 1, EA1    
CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA
» BEALS SYNDROME
121050 FBN2 (FIBRILLIN 2)

121050

15 exons (exons 15, 22 -33 , 35-36)
CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1   See EPILEPSY, BENIGN NEONATAL, TYPE 1    
CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA   See MYOKYMIA WITH NEONATAL EPILEPSY    
CORI DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 3    
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 PPCD1 122000 VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)    
CORNELIA DE LANGE SYNDROME
» BRACHMANN-DE LANGE SYNDROME
122470  NIPBL 608667  .
CORNELIA DE LANGE SYNDROME (X-LINKED) 300590 SMC1A (STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A, SMC1L1, SMC1) 300040   
CORPUS CALLOSUM AGENESIS (X-LINKED), ACC 304100 L1 (L1CAM) 308840  
CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY
» ALDOSTERONE DEFICIENCY 1
» HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1
» ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
» 18-@HYDROXYLASE DEFICIENCY
» STEROID 18-@HYDROXYLASE DEFICIENCY

203400

CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)
124080   

CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
» APPARENT MINERALOCORTICOID EXCESS
» 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2

 218030 HSD11B2 218030  
CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT   See GLUCOCORTICOID RECEPTOR DEFICIENCY    

COSTELLO SYNDROME
» FACIOCUTANEOSKELETAL SYNDROME

218040

HRAS (V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG)

190020

1 Exon: 2
or
4 Exons: 2, 3, 4, 6

COVESDEM SYNDROME    See ROBINOW SYNDROME (AUTOSOMAL RECESSIVE)    

COWDEN DISEASE 
» LHERMITTE-DUCLOS DISEASE 

158350

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

601299  
PTEN 601728  
COX DEFICIENCY   See CYTOCHROME c OXIDASE DEFICIENCY    
CPT1 DEFICIENCY   See CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY    
CPT2 DEFICIENCY, HEPATIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE    
CPT2 DEFICIENCY, LATE-ONSET   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET    
CPT2 DEFICIENCY, LETHAL NEONATAL   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL    
CPT2 DEFICIENCY, MYOPATHIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET    
CRANIOCARPOTARSAL DYSTROPHY   See ARTHROGRYPOSIS, DISTAL, TYPE 2A    
CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS .  VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)    
CRANIOFRONTONASAL DYSOSTOSIS . See CRANIOFRONTONASAL SYNDROME, CFNS . ..
CRANIOFRONTONASAL SYNDROME, CFNS
» CRANIOFRONTONASAL DYSOSTOSIS
304110 EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) 300035 .
CRANIOMANDIBULAR DERMATODYSOSTOSIS  . See MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA .  
CRANIOORODIGITAL SYNDROME   See OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2    
CRANIOSYNOSTOSIS, APERT SYNDROME
.
 
 
CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA . See BEARE-STEVENSON CUTIS GYRATA    
CRANIOSYNOSTOSIS, BOSTON-TYPE   See CRANIOSYNOSTOSIS, TYPE 2    
CRANIOSYNOSTOSIS, CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS   See CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS    
CRANIOSYNOSTOSIS, CROUZON SYNDROME   See CROUZON SYNDROME    

CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

..

See JACKSON-WEISS SYNDROME

.

.

CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE)

..

See NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE)

.

.

CRANIOSYNOSTOSIS, PFEIFFER SYNDROME . See PFEIFFER SYNDROME . .
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME   See BALLER-GEROLD SYNDROME    

CRANIOSYNOSTOSIS, SADDAN DYSPLASIA

.

See SADDAN DYSPLASIA

.

.

CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

..

See SAETHRE-CHOTZEN SYNDROME

.

.

CRANIOSYNOSTOSIS, TYPE 2
» CRANIOSYNOSTOSIS, BOSTON-TYPE

604757 MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) 123101  
CRANIOSYNOSTOSIS WITH RADIAL DEFECTS   See BALLER-GEROLD SYNDROME    

CRASH SYNDROME
» MENTAL RETARDATION, APHASIA, SHUFFLING GATE, AND ADDUCTED THUMBS SYNDROME, MASA

303350 L1 (L1CAM) 308840  

CREATINE DEFICIENCY SYNDROME (X-LINKED)

300352

SLC6A8 (CREATINE TRANSPORTER, CT1) 300036 Blood in RNA PAX tubes
CREE ENCEPHALITIS   See AICARDI-GOUTIERES SYNDROME 1    

CREUTZFELDT-JAKOB DISEASE, CJD

123400

PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction
CRIGLER-NAJJAR SYNDROME, TYPE 1

218800

UGT1A1  (UDP-GLYCURONOSYL TRANSFERASE) 191740  
CRIGLER-NAJJAR SYNDROME, TYPE 2 606785 UGT1A1  (UDP-GLYCURONOSYL TRANSFERASE) 191740  

CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS
» CROUZONO DERMO SKELETAL SYNDROME
» CRANIOSYNOSTOSIS, CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS

. FGFR3 134934  
CROUZON SYNDROME
» CRANIOSYNOSTOSIS, CROUZON SYNDROME
123500 FGFR2 176943  
CRYPTIC Y-CHROMOSOMAL MATERIAL . TSPY (TESTIS-SPECIFIC PROTEIN, Y-LINKED)
480100 .
CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME   See FRASER SYNDROME    
CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS   See FRASER SYNDROME    
CURRARINO TRIAD
» SACRAL AGENESIS SYNDROME
» SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION
176450 HLXB9 (HOMEOBOX GENE HB9)
142994   
CUTANEOUS MALIGNANT MELANOMA 2, CMM2 155601 P16 (CDKN2) 600160  
CUTIS LAXA (AUTOSOMAL DOMINANT) 123700 FBLN5 (FIBULIN 5) 604580  
CUTIS LAXA (AUTOSOMAL RECESSIVE) 219100 FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2) 607844  
FBLN5 (FIBULIN 5) 604580  

CYCLIC HEMATOPOIESIS
» CYCLIC NEUTROPENIA

162800

ELA2 (ELASTASE 2) 130130  
CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS
» HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS
. KRT1 (KERATIN 1) 139350 Whole Gene or Hotspots
CYCLIC NEUTROPENIA   See CYCLIC HEMATOPOIESIS    
CYP21 DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1    
CYSTIC FIBROSIS, CF 219700 CFTR 602421 Whole Gene or
Mutations Kit or MLPA
CYSTINOSIS, ADULT NONNEPHROPATHIC 219750 CTNS (CYSTINOSIN) 606272  
CYSTINOSIS, INTERMEDIATE   See CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE    

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE
» CYSTINOSIS, INTERMEDIATE

219900 CTNS (CYSTINOSIN) 606272  
CYSTINOSIS, NEPHROPATHIC 219800 CTNS (CYSTINOSIN) 606272  

CYSTINURIA TYPE 1

 

220100

SLC3A1 (RBAT) 104614 Whole Gene
SLC7A9 604144 Whole Gene

SLC3A1 (RBAT)
(analyzed together with SLC7A9)

104614

10 mutations in SLC3A1:
Thr216Met, Ser217Arg, Arg365Trp,
Arg365Leu,
Arg362Cys, Met467Thr,
Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9

includes

7 mutations
in SLC7A9:
Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp

SLC7A9
(analyzed together with SLC3A1)

604144

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252010 NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT) 157655 .
NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT) 603846 .
NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ) 602694 .
NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST) 601825 .
NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) 602141 .
NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) 161015 .
CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 2, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
252011 SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) 600857 .

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

124000 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 .

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

220110 COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) 602125 .

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

603646 .
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) 300502  
SCO2 604272  
SURF1 (SURFEIT 1) 185620  
CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY   See CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY    
 


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

D

Disease Disease OMIM Gene Gene OMIM Comment
DALMATIAN HYPOURICEMIA   See HYPOURICEMIA, RENAL    
DANON DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 2B    
DARIER DISEASE . See DARIER-WHITE DISEASE .  
DARIER-WHITE DISEASE
» KERATOSIS FOLLICULARIS
» DARIER DISEASE
124200 ATP2A2 (ATP2B, SERCA2) 108740  

DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION, DFN3
» PERILYMPHATIC GUSHER-DEAFNESS SYNDROME

  . 

POU3F4 (POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4)

300039  

DEAFNESS, DFNA2
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 2

600101 GJB3 (CONNEXIN 31, CX31) 603324 Whole Gene

DEAFNESS, DFNA3
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 3

601544 GJB2 (CONNEXIN 26, CX26) 121011  
GJB6 (CONNEXIN 30, CX30) 604418 Whole Gene

DEAFNESS, DFNA6
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 6

600965 WFS1 (WOLFRAMIN ) 606201  
DEAFNESS, DFNA9
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 9
603196 COCH (COCHLIN)
603196 Whole Gene or 1 Mutation: P51S
DEAFNESS, DFNA13
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13
601868 COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 Turn-around-time: 30 Weeks
DEAFNESS, DFNA17
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 17
603622 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775  
DEAFNESS, DFNA53
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53
609706 COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 Turn-around-time: 30 Weeks

DEAFNESS, DFNB1
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 1

220290 GJB2 (CONNEXIN 26, CX26) 121011  
GJB6  (CONNEXIN 30, CX30) 604418 Whole Gene
DEAFNESS, DFNB4
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 4
600791 SLC26A4 (PENDRIN) 605646  

DEAFNESS, DFNB9
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9
» AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1

601071

OTOF (OTOFERLIN)

603681   
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13   See DEAFNESS, DFNA13    
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53   See DEAFNESS, DFNA53    
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9   See DEAFNESS, DFNB9    
DEAFNESS, MITOCHONDRIAL . Listed separately.
» See also (Mitochondrial Molecular Tests
   
DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES   See TOWNES-BROCKS SYNDROME    
DEAFNESS, WITH KERATITIS AND ICHTHYOSIS . See KERATITIS-ICHTHYOSIS-DEAFNESS    
DEAFNESS, WITH PALMOPLANTAR KERATODERMA . See PALMOPLANTAR KERATODERMA WITH DEAFNESS    
DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F    
DE LA CHAPELLE DYSPLASIA   See ATELOSTEOGENESIS TYPE 2    
DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION   See FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE    
DEMENTIA, PREFRONTAL, WITH BONE CYSTS   See PRESENILE DEMENTIA WITH BONE CYSTS    
DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA   See PRESENILE DEMENTIA WITH BONE CYSTS    
DE MORSIER SYNDROME   See SEPTOOPTIC DYSPLASIA    
DENT NEPHROCALCINOSIS 300009 CLCN5 300008  

OCRL1

309000.

 
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, DRPLA 125370 DRPLA (ATROPHIN 1) 125370

Repeat

DENYS-DRASH SYNDROME
» WILMS TUMOR AND PSEUDOHERMAPHRODITISM

194080 WT1 (WILMS TUMOR 1 GENE) 607102 Whole Gene
DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS   See BUSCHKE-OLLENDORFF SYNDROME    
DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH
OSTEOPOIKILOSIS
  See BUSCHKE-OLLENDORFF SYNDROME    
DERMATOOSTEOPOIKILOSIS   See BUSCHKE-OLLENDORFF SYNDROME    
DESMINOPATHY, PRIMARY   See MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED    
D-GLYCERATE DEHYDROGENASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 2    
DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS . See WOLFRAM SYNDROME    
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT) 125800 AQP2 (AQUAPORIN 2) 107777  
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) 222000 AQP2 (AQUAPORIN 2) 107777  
DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 304800 AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)
304800  
DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX    
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS 147670 INSR (INSULIN RECEPTOR) 147670  
DIABETES MELLITUS, MILD JUVENILE . See MATURITY-ONSET DIABETES OF THE YOUNG    

DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM
» DIABETES MELLITUS, TYPE 2
» NONINSULIN-DEPENDENT DIABETES MELLITUS
» MATURITY-ONSET DIABETES
» INSULIN RESISTANCE, SUSCEPTIBILITY TO

125853  NEUROD1 (BETA2) 601724 .
PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE)
601487 2 Mutations: P12A and P115Q
DIABETES MELLITUS, PERMANENT NEONATAL 606176 ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1) 600509  
KCNJ11 600937 .
DIABETES MELLITUS, TYPE 2   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM    

DIAMOND-BLACKFAN ANEMIA, DBA

105650

RPS19

603474

 
DIAPHYSEAL DYSPLASIA 1 . See CAMURATI-ENGELMANN DISEASE . .
DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX    

DIASTROPHIC DYSPLASIA , DTD 

222600

SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718  
DIBASICAMINO ACIDURIA, TYPE 2   See LYSINURIC PROTEIN INTOLERANCE    
DIDMOAD . See WOLFRAM SYNDROME    
DIEGO BLOOD GROUP ANTIGEN 110500 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270  
DIGEORGE SYNDROME, DGS
» CATCH22
» 22q11.2 DELETION SYNDROME
188400 TBX1 (T-BOX 1) 602054  
DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM   See FEINGOLD SYNDROME    
DILATED CARDIOMYOPATHY       See ACTC, MYL2 and MYL3
    See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1
DILATED CARDIOMYOPATHY (X-LINKED) 302045 DMD (DYSTROPHIN) 300377

Whole Gene or Deletions-Duplications (MLPA)

DILATED CARDIOMYOPATHY, 1D, CMD1D 601494 TNNT2  191045 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1
DILATED CARDIOMYOPATHY, 1I, CMD1I 604765 DES (DESMIN) 125660  
DILATED CARDIOMYOPATHY, 1L, CMD1L 606685 SGCD (SARCOGLYCAN DELTA) 601411  
DILATED CARDIOMYOPATHY WITH CARDIAC CONDUCTION DEFECTS, CMD1A
115200 LMNA (LAMIN A/C) 150330  
DISACCHARIDE INTOLERANCE   See LACTOSE INTOLERANCE    
DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX   See FRONTOTEMPORAL DEMENTIA    
DISORDERED STEROIDOGENESIS, ISOLATED .  POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015  
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS   See MAY-HEGGLIN ANOMALY    
DONOHUE SYNDROME   See LEPRECHAUNISM    
DOPA-RESPONSIVE DYSTONIA, (AUTOSOMAL DOMINANT), DRD   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION    

DOUBLE CORTEX SYNDROME
» LISSENCEPHALY (X-LINKED)
» SUBCORTICAL LAMINAR HETEROTOPIA

300067 DCX (DOUBLECORTIN) 300121  Whole Gene Sequencing or Deletions - Duplications
DOUBLE-OUTLET RIGHT VENTRICLE . See CONOTRUNCAL ANOMALY FACE SYNDROME .  
DR SYNDROME   See DUANE-RADIAL RAY SYNDROME    
DRAVET SYNDROME   See SEVERE MYOCLONIC EPILEPSY OF INFANCY    
DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS   See DUANE-RADIAL RAY SYNDROME    

DUANE-RADIAL RAY SYNDROME
» OKIHIRO SYNDROME
» DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
» DR SYNDROME
» ACRORENOOCULAR SYNDROME

607323

SALL4 (SAL-LIKE 4)

607343 Whole Gene or Deletions
DU PAN SYNDROME . See FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY    
DUCHENNE MUSCULAR DYSTROPHY, DMD
» MUSCULAR DYSTROPHY, DUCHENNE MUSCULAR DYSTROPHY
310200 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA)

DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1
» LIMB GIRDLE MUSCULAR DYSTROPHY 2C, LGMD2C
» MUSCULAR DYSTROPHY, DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1

253700 SGCG (SARCOGLYCAN GAMMA) 253700  
DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 2, AUTOSOMAL RECESSIVE, DMDA2 . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . .

DYSAUTONOMIA, FAMILIAL, DYS
» RILEY-DAY SYNDROME
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY, TYPE 3, HSAN-3
» (See also Molecular Screening Tests)

223900 IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) 603722 2 Mutations: IVS2 + 6T-C, R696P
DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E
» APOLIPOPROTEIN E DEFICIENCY
» HYPERLIPOPROTEINEMIA, TYPE 3
» FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA
» FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA
107741 APOE (APOLIPOPROTEIN E)
107741  
DYSCHONDROSTEOSIS   See LERI-WEILL DYSCHONDROSTEOSIS    
DYSCHONDROSTEOSIS, HOMOZYGOUS   See LANGER MESOMELIC DYSPLASIA    
DYSENCEPHALIA SPLANCHNOCYSTICA   See MECKEL SYNDROME, TYPE 1    
See MECKEL SYNDROME, TYPE 3    
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1   See ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1    
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
» MACROTHROMBOCYTOPENIA (X-LINKED)
300637 GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION FACTOR 1) 305371  
DYSFIBRINOGENEMIA . See AFIBRINOGENEMIA    

DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT)
» DYSKERATOSIS CONGENITA, SCOGGINS TYPE

127550 TERC (TELOMERASE RNA COMPONENT) 602322  

DYSKERATOSIS CONGENITA (X-LINKED), DKC
» ZINSSER-COLE-ENGMAN SYNDROME

305000 DKC1 (DYSKERIN) 300126  
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER   See KALLMANN SYNDROME, TYPE 1, KAL1    
DYSTONIA 5, DYT5   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION    
DYSTONIA 8, DYT8   See PAROXYSMAL NONKINESIGENIC DYSKINESIA    
DYSTONIA 11, DYT11   See MYOCLONIC DYSTONIA    
DYSTONIA, ALCOHOL-RESPONSIVE   See MYOCLONIC DYSTONIA    

DYSTONIA MUSCULORUM DEFORMANS
» TORSION DYSTONIA, EARLY ONSET, DYT1

128100 DYT1 (TORSIN A) 605204 GAG Deletion or Whole Gene
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION
» DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
» DYSTONIA 5, DYT5
» SEGAWA SYNDROME (AUTOSOMAL DOMINANT)
» DOPA-RESPONSIVE DYSTONIA, (AUTOSOMAL DOMINANT), DRD
128230 GCH1 (GTP CYCLOHYDROLASE 1) 600225  
DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION    
 


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

E
 
Disease Disease OMIM Gene Gene OMIM Comment
ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE 3   See ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3    
ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME .. See CLOUSTON SYNDROME    
ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 1 .. See ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1    
ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 3 .. See ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3    
ECTODERMAL DYSPLASIA, HYPO-ANHIDROTIC (X-LINKED), ED1 305100

ED1  (ECTODYSPLASIN A, EDA)

300451

.

ECTODERMAL DYSPLASIA, HYPOHIDROTIC (AUTOSOMAL RECESSIVE) . See HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) . .
ECTODERMAL DYSPLASIA, HYPOHIDROTIC WITH IMMUNE DEFICIENCY . See HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY . .
ECTOPIA LENTIS 129600 FBN1 (FIBRILLIN1) 134797 At least 20mg DNA is needed 

ECTOPIA PUPILLAE

129750

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene or Deletion Analysis (MLPA)

ECTOPIC OSSIFICATION, FAMILIAL . See OSSEOUS HETEROPLASIA, PROGRESSIVE .  

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1
» ECTODERMAL DYSPLASIA, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1

129900

P63 (TP63)

603273

Exons 5-8, 13 and 14

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3
» ECTODERMAL DYSPLASIA, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3

604292

P63 (TP63)

603273

Exons 5-8, 13 and 14

EHLERS - DANLOS TYPE 1, EDS 1 130000 COL5A1 and COL5A2 120215 and 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note)
COL1A1 and COL1A2 120150 and 120160 Only on skin fibroblast cultures for mutation analysis in proband (See note)
EHLERS - DANLOS TYPE 2, EDS 2 130010 COL5A1 and COL5A2 120215 and 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note)
EHLERS - DANLOS TYPE 4, EDS 4 130050 COL3A1 120180 Only on skin fibroblast cultures for mutation analysis in proband (See note)

EHLERS-DANLOS, TYPE 7, DOMINANT, EDS7

130060

COL1A1 and COL1A2

120150 and 120160

Splice site mutations exons 5, 6 and 7

ELLIPTOCYTOSIS (MALAYSIAN-MELANESIAN TYPE, ELLIPTOCYTOSIS 4) 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270  
ELLIS-VAN CREVELD SYNDROME 225500 EVC 604831 .
EVC2 607261 .

EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT ), EDMD2

181350

LMNA (LAMIN A/C) 150330  
EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE ), EDMD3
604949 LMNA (LAMIN A/C) 150330  

EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD
» MUSCULAR DYSTROPHY, EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

310300

EMERIN (EMD)

300384

.

ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS   See AICARDI-GOUTIERES SYNDROME 1    
ENLARGED VESTIBULAR AQUEDUCT SYNDROME, EVA 603545 SLC26A4 (PENDRIN) 605646  
ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX    
EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE   See EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS    
EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE   See EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE    
See EPIDERMOLYSIS BULLOSA OF HANDS AND FEET    
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
» ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES
131750 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120  
EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL (AUTOSOMAL DOMINANT)   See TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN    
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)    
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE)
226600 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120  
EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE)   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)    
EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)    
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE
» EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE
607600 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120  
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
  
226650 COL17A1 (COLLAGEN, TYPE 17, ALPHA-1)
113811  
ITGB4 (INTEGRIN, BETA-4) 147557  
LAMA3 (LAMININ, ALPHA-3) 600805 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMB3 (LAMININ, BETA-3) 150310 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMC2 (LAMININ, GAMMA-2) 150292 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMA3,
LAMB3 and
LAMC2
6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN    
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE   See EPIDERMOLYSIS BULLOSA LETALIS    
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT    See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN    
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN    
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN    
EPIDERMOLYSIS BULLOSA LETALIS
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
» HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA
226700 LAMA3 (LAMININ, ALPHA-3) 600805 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMB3 (LAMININ, BETA-3) 150310 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMC2 (LAMININ, GAMMA-2) 150292 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMA3,
LAMB3 and
LAMC2
6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
» WEBER-COCKAYNE TYPE EPIDERMOLYSIS BULLOSA SIMPLEX
» COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE
131800 ITGB4 (INTEGRIN, BETA-4) 147557  
EPIDERMOLYSIS BULLOSA, PRETIBIAL 131850 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120  
EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES   See EPIDERMOLYSIS BULLOSA DYSTROPHICA, DOMINANT    
EPIDERMOLYSIS BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND RECESSIVE)

604129

COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120  
EPIDERMOLYSIS BULLOSA SIMPLEX 1, EBS1   See EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE    

EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE)

131760

KRT14 (KERATIN 14)

148066

Whole Gene

KRT5 (KERATIN 5)

148040

Whole Gene

KRT5 and KRT14 (KERATIN 5 and KERATIN 14)

.

Hotspots

EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE)

131900

KRT14 (KERATIN 14)

148066

Whole Gene

KRT5 (KERATIN 5)

148040

Whole Gene

KRT5 and KRT14 (KERATIN 5 and KERATIN 14)

.

Hotspots

EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
» EPIDERMOLYSIS BULLOSA SIMPLEX 1, EBS1
131950 PLEC1 (PLECTIN 1) 601282  
EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS   See EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE    

EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE)

131800

KRT14 (KERATIN 14)

148066

Whole Gene

KRT5 (KERATIN 5)

148040

Whole Gene

KRT5 and KRT14 (KERATIN 5 and KERATIN 14)

.

Hotspots

EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
132000 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120  
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
» APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
» CARMI SYNDROME
226730 ITGB4 (INTEGRIN, BETA-4) 147557  
ITGA6 (INTEGRIN, ALPHA-6) 147556  

EPIDERMOLYTIC HYPERKERATOSIS

.

See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL

.

.

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA
» VORNER DISEASE
» HYPERKERATOSIS, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

144200

KRT9 (KERATIN 9)

144200

Whole Gene or Hotspots

EPILEPSY, BENIGN NEONATAL, TYPE 1
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1

121200

KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2)

602235  
EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA   See MYOKYMIA WITH NEONATAL EPILEPSY    
EPILEPSY, CHILDHOOD ABSENCE, 2 607681

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

137164  
EPILEPSY, INFANTILE SPASMS (X-LINKED)   See INFANTILE SPASMS (X-LINKED), ISS X    
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 600513

CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT)

118504  

EPILEPSY, PROGRESSIVE MYOCLONUS
» UNVERRICH-LUNDBORG DISEASE

254800

CSTB (CYSTATIN B, STEFIN B)

601145

Repeat

EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2   See MYOCLONIC EPILEPSY OF LAFORA    
EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED   See PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY    
EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 4, EDM4
»
MULTIPLE EPIPHYSEAL DYSPLASIA (AUTOSOMAL RECESSIVE)
226900 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718  

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
» MED-IDDM SYNDROME
» IDDM-MED SYNDROME
» WOLCOTT-RALLISON SYNDROME

226980

EIF2AK3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3)

604032   
EPISKOPI BLINDNESS   See NORRIE DISEASE     
EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED   See EPISODIC ATAXIA, TYPE 2, EA2    
EPISODIC ATAXIA, TYPE 1, EA1
» EPISODIC ATAXIA WITH MYOKYMIA
» ATAXIA, EPISODIC, WITH MYOKYMIA
» PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
» MYOKYMIA WITH PERIODIC ATAXIA
» MYOKYMIA
» CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY
» ISAACS-MERTENS SYNDROME
160120 KCNA1 (POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1)
176260   
EPISODIC ATAXIA, TYPE 2, EA2
» ATAXIA, EPISODIC, WITH NYSTAGMUS
» EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED
» CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
» FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
» HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA
» CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE
108500 CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) 601011  
EPISODIC ATAXIA WITH MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1    
EPSTEIN SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS
» ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA
153650 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775  
ERYTHROCYTOSIS, STOMATOCYTIC HEREDITARY 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270  
ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC 602036 LOR (LORICRIN) 152445   

ERYTHROKERATODERMIA VARIABILIS, EKV

133200

GJB3 (CONNEXIN 31, CX31)

603324

Whole Gene

GJB4 (CONNEXIN 30.3, CX30.3)

605425

.

ESCOBAR SYNDROME
» MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
» MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
» PTERYGIUM COLLI SYNDROME
» PTERYGIUM UNIVERSALE

265000

CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE) 100730  
ESSENTIAL THROMBOCYTHEMIA 187950 JAK2 (JANUS KINASE 2) 147796 1Common Mutation: V617F
EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME   See BECKWITH-WIEDEMANN SYNDROME, BWS    
EXUDATIVE RETINOPATHY (X-LINKED)   See NORRIE DISEASE     
 


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

F

Disease Disease OMIM Gene Gene OMIM Comment

FABRY DISEASE

301500

GLA (GALACTOSIDASE)

301500

.

FACIOCUTANEOSKELETAL SYNDROME   See COSTELLO SYNDROME    

FACIODIGITOGENITAL SYNDROME

.

See AARSKOG SYNDROME

.

.

FACIOPALATOOSSEOUS SYNDROME   See OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2    

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD
» LANDOUZY-DEJERINE MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD
» MUSCULAR DYSTROPHY, LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

158900

FSHD

158900

Repeat

At least 10ml EDTA Blood

FACTOR 7 DEFICIENCY
» HYPOPROCONVERTINEMIA

227500

F7 (FACTOR 7, COAGULATION FACTOR 7)

227500  
FAH DEFICIENCY   See TYROSINEMIA, TYPE 1    
FAMILIAL AORTIC ANEURYSM   FBN1 (FIBRILLIN1) 134797 At least 20mg DNA is needed 

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME

.

See COLD URTICARIA

.

.

FAMILIAL DYSAUTONOMIA, TYPE 2   See INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA    
FAMILIAL FATAL INSOMNIA   See INSOMNIA-DYSAUTONOMIA    
FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)   See NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1    
FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E    
FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E    
FAMILIAL HYPOBETALIPOPROTEINEMIA   See HYPOBETALIPOPROTEINEMIA, FAMILIAL    
FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2   See PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PPSH    
FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ
» GOUTY NEPHROPATHY
162000 UMOD (UROMODULIN) 191845  

FAMILIAL MEDITERRANEAN FEVER, FMF

249100

MEFV

249100

Exons 2,3,5 and 10 harbouring 98% of all mutations or Whole Gene

FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 602481 ATP1A2 182340 Whole Gene or 2 Mutations: L764P and W887R
FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
  See EPISODIC ATAXIA, TYPE 2, EA2    
FAMILIAL RECURRENT ARTHRITIS   See PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE    

FAMILIAL SPASTIC PARAPLEGIA 1 (X-LINKED), SPG1

312900

L1 (L1CAM)

308840

.

FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 

312920

PLP1 (PROTEOLIPID PROTEIN 1, PLP)

300401

Whole Gene or Duplication

Preferably EDTA-blood

FAMILIAL SPASTIC PARAPLEGIA 3 (AUTOSOMAL DOMINANT), SPG3A, FSP1
» STRUMPELL DISEASE

182600

SPG3A (ATLASTIN)

606439

.

FAMILIAL SPASTIC PARAPLEGIA 4 (AUTOSOMAL DOMINANT), SPG4, FSP2

182601

SPG4 (SPASTIN, SPAST)

604277.

.

FAMILIAL SPASTIC PARAPLEGIA 6 (AUTOSOMAL DOMINANT), SPG6 600363

NIPA1 (NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1)

608145 Whole Gene
FAMILIAL SPASTIC PARAPLEGIA 7 (AUTOSOMAL RECESSIVE), SPG7, FSP7

607259

SPG7 (PARAPLEGIN)
602783  Whole Gene

FAMILIAL SPASTIC PARAPLEGIA 10 (AUTOSOMAL DOMINANT), SPG10

604187

KIF5A (KINESIN FAMILY MEMBER 5A)

602821.

Whole Gene

FANCONI ANEMIA
» FANCONI PANCYTOPENIA
227650 FANCA 607139 Whole Gene, 14 Exons: Exons 1, 6, 7, 8, 11, 15, 16, 17, 19, 20, 32, 39, 42, 43, representing 25% of reported mutations or 8 Exons: Exons 13, 27, 29, 34-38, representing 67% of reported mutations

FANCONI ANEMIA, COMPLEMENTATION GROUP C
» FANCONI PANCYTOPENIA, TYPE 3
» (See also Molecular Screening Tests)

227645

FANCC

227645

1 Mutation: IVS4+4A-G

FANCONI-BICKEL SYNDROME   See GLYCOGEN STORAGE DISEASE, TYPE 11    
FANCONI PANCYTOPENIA   See FANCONI ANEMIA    
FARABEE TYPE BRACHYDACTYLY . See BRACHYDACTYLY A1, BDA1 . .
FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES   See GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+    
FECHTNER SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS
» ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA
153640 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775  

FEINGOLD SYNDROME
» OCULODIGITOESOPHAGODUODENAL SYNDROME
» ODED SYNDROME
» MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME
» DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM
» MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME
» MMT SYNDROME

164280

MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED)

164840 Whole Gene or Deletions
FELLMAN SYNDROME . See GRACILE SYNDROME    
FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY   See TIGHT SKIN CONTRACTURE SYNDROME, LETHAL    
FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS . See BIRT-HOGG-DUBE SYNDROME, BHD .  
FIBROMATOSIS, GINGIVAL, TYPE 1 135300 SOS1 (SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1) 308700  
FIBROMUSCULAR DYSPLASIA 135580 COL3A1 120180 Only on skin fibroblast cultures for mutation analysis in proband (See note)

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3
» OPHTHALMOPLEGIA, CONGENITAL
» BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS

135700

 

KIF21A (KINESIN FAMILY MEMBER 21A)

608283

Hot Spots (Exons 8, 20, 21)

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2

602078

ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)

602753

.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3, FEOM3, CFEOM3

600638

KIF21A (KINESIN FAMILY MEMBER 21A)

608283

Hot Spots (Exons 8, 20, 21)

FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
» FUHRMANN SYNDROME

228930

WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A)

  601570  

FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
» DU PAN SYNDROME

228900

GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)

601146

.

FINNISH CONGENITAL NEPHROSIS   See NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1    
FINNISH LETHAL NEONATAL METABOLIC SYNDROME . See GRACILE SYNDROME    

FISH-EYE DISEASE

136120

LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE)

606967

.

FISH-ODOR SYNDROME
» TRIMETHYLAMINURIA

602079

FMO3 (FLAVIN - CONTAINING MONOOXYGENASE 3)

136132

.

FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 603278 ACTN4 (ACTININ, ALPHA-4) 604638  
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 2 603965 TRPC6 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6) 603652  
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 607832 CD2AP (CD2-ASSOCIATED PROTEIN) 604241  
FORAMINA PARIETALIA PERMAGNA   See PARIETAL FORAMINA, TYPE 1    
  See PARIETAL FORAMINA, TYPE 2    
FORBES DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 3    

FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME

136520

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene or Deletion Analysis (MLPA)

FOVEOMACULAR DYSTROPHY, ADULT-ONSET   See MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET    
FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION   See VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET    

FRAGILE E SYNDROME, FRAXE

309548

FMR2

309548

Repeat

FRAGILE F SYNDROME 300031 FRAXF (FRAGILE SITE F) 300031 Repeat

FRAGILE X SYNDROME, FRAXA

309550

FMR1

309550

Repeat - At least 20mg DNA with a concentration higher than 300 nanogram per microliter is needed

FRASER SYNDROME
» CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
» CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME

219000

FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2)

608945  Exon 6

FRASIER SYNDROME

136680

WT1 (WILMS TUMOR 1 GENE)

607102

Whole Gene

FREEMAN-SHELDON SYNDROME   See ARTHROGRYPOSIS, DISTAL, TYPE 2A    
FREEMAN-SHELDON SYNDROME VARIANT   See ARTHROGRYPOSIS, DISTAL, TYPE 2B    

FRIEDREICH ATAXIA, FRDA

229300

FRDA (FRATAXINE)

606829

Repeat or 5 Exons: 1-5

FRONTOMETAPHYSEAL DYSPLASIA 305620 FLNA (FILAMIN A) 300017 Exons 22, 29

FRONTOTEMPORAL DEMENTIA
» MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA
» DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
» WILHELMSEN-LYNCH DISEASE
» FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS
» PALLIDOPONTONIGRAL DEGENERATION

600274

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   
157140  Whole Gene 
FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS   See FRONTOTEMPORAL DEMENTIA    

FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE
» DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION

607485

GRN (GRANULIN, PROGRANULIN,
EPITHELIN)

138945 Whole Gene or Deletions
FRUCTOSE INTOLERANCE
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
» ALDOLASE B DEFICIENCY
229600 ALDOB (ALDOLASE B) 229600 Whole Gene or 3 Common Mutations: A149P, A174D, N334K
FRUCTOSEMIA   See FRUCTOSE INTOLERANCE    
FRUCTOSE-1-PHOSPHATE   See FRUCTOSE INTOLERANCE    
FUCOSIDOSIS
» ALPHA-L-FUCOSIDASE DEFICIENCY
230000 FUCA1 (ALPHA-L-FUCOSIDASE) 230000  
FUHRMANN SYNDROME   See FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY    
FUMARASE DEFICIENCY 606812 FH (FUMARATE HYDRATASE, FUMARASE) 136850 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
FUMARIC ACIDURIA   See FUMARASE DEFICIENCY    
FUMARYLACETOACETASE DEFICIENCY   See TYROSINEMIA, TYPE 1    

FUNDUS ALBIPUNCTATUS
» RETINITIS PUNCTATA ALBESCENS

136880 PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605  

RDH5 (RETINOL DEHYDROGENASE 5)

601617  

FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
» SORSBY SYNDROME

136900

TIMP3 (TISSUE INHIBITOR OF METALLOPROTEINASE 3)

188826   
FUNDUS FLAVIMACULATUS   See STARGARDT DISEASE, TYPE 1    
 


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

G

Disease Disease OMIM Gene Gene OMIM Comment

G6PD DEFICIENCY
» GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

305900

G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE)

305900

 
GALACTOCEREBROSIDASE DEFICIENCY   See KRABBE DISEASE    
GALACTOKINASE DEFICIENCY
» GALK DEFICIENCY
» GALACTOSEMIA TYPE 2
» GALACTOKINASE DEFICIENCY WITH CATARACT

230200 

GALK1 (GALACTOKINASE 1) 604313  .
GALACTOKINASE DEFICIENCY WITH CATARACT   See GALACTOKINASE DEFICIENCY    
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY . See GALACTOSEMIA TYPE 1 . .
GALACTOSEMIA TYPE 1
» GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
230400 GALT (GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE) 606999 Whole Gene or 1 Mutation: GLN188ARG
GALACTOSEMIA TYPE 2   See GALACTOKINASE DEFICIENCY    
GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY   See KRABBE DISEASE    
GALK DEFICIENCY   See GALACTOKINASE DEFICIENCY    
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1   See BETA-GALACTOSIDASE-1 DEFICIENCY,
GLB1 DEFICIENCY
   
GANGLIOSIDOSIS, GENERALIZED GM2, TYPE 1   See TAY-SACHS DISEASE    
GASTRIC CANCER, FAMILIAL DIFFUSE 137215

CDH1 (CADHERIN 1, UVOMORULIN)

  
192090  
GAUCHER DISEASE DUE TO SAP2 DEFICIENCY   See METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY    

GAUCHER DISEASE, TYPE 1
» (See also Molecular Screening Tests)

230800

GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

GAUCHER DISEASE, TYPE 2
» (See also Molecular Screening Tests)

230900

GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

GAUCHER DISEASE, TYPE 3
» (See also Molecular Screening Tests)

231000

GBA  (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

GCH DEFICIENCY   See GTP CYCLOHYDROLASE 1 DEFICIENCY

.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES
604233

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

137164  
SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 .  

SCN1B (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 1, BETA SUBUNIT)

600235  
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2   See GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+    
GERMAN TYPE AMYLOIDOSIS   See AMYLOIDOSIS, FAMILIAL VISCERAL    
GERSTMANN-STRAUSSLER DISEASE, GSD 137440 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction
GIANT CELL CHONDRODYSPLASIA   See ATELOSTEOGENESIS, TYPE 1    
GIANT PLATELET SYNDROME
» BERNARD-SOULIER SYNDROME
» PLATELET GLYCOPROTEIN Ib DEFICIENCY
» GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF
» VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY
» MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE
231200 GP1BB (GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE) 138720   

GILBERT SYNDROME

143500

UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE)

191740

1 Mutation: TA insertion in promotor

GITELMAN SYNDROME
» HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
» POTASSIUM AND MAGNESIUM DEPLETION
263800 SLC12A3 (SOLUTE CARRIER FAMILY 12, SODIUM/CHLORIDE TRANSPORTER, MEMBER 3, THIAZIDE-SENSITIVE NA-CL COTRANSPORTER) 600968   
GLAUCOMA   CYP1B1,
OPTN and
MYOC

Analysis of 3 Genes
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG 137760 

OPTN (OPTINEURIN)

602432 See also CYP1B1,
OPTN and
MYOC

WDR36 (WD40-REPEAT 36)

.  
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1 137750 MYOC (MYOCILIN)

601652 See also CYP1B1,
OPTN and
MYOC
GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A
» BUPHTHALMOS
231300  CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1) 601771 See also CYP1B1,
OPTN and
MYOC
GLOBOID CELL LEUKODYSTROPHY   See KRABBE DISEASE    

GLOMUS TUMORS, TYPE 1

.

See PARAGANGLIOMAS, PGL1

.

.

GLOMUS TUMORS, TYPE 3  

See PARAGANGLIOMAS, PGL3

   
GLOMUS TUMORS, TYPE 4   See PARAGANGLIOMAS, PGL4    
GLUCOCORTICOID DEFICIENCY 1
» ADRENAL UNRESPONSIVENESS TO ACTH
» ACTH RESISTANCE
202200 MC2R (MELANOCORTIN 2 RECEPTOR; ACTH RECEPTOR) 607397  
GLUCOCORTICOID DEFICIENCY 2 607398 MRAP (MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN)
609196  
GLUCOCORTICOID DEFICIENCY AND ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
GLUCOCORTICOID RECEPTOR DEFICIENCY
» GLUCOCORTICOID RESISTANCE
» CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT
» PSEUDOHERMAPHRODITISM WITH HYPOKALEMIA DUE TO GLUCOCORTICOID RESISTANCE
138040 NR3C1 138040 .
GLUCOCORTICOID RESISTANCE   See GLUCOCORTICOID RECEPTOR DEFICIENCY    
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY   See G6PD DEFICIENCY    

GLUCOSIDASE DEFICIENCY

.

See GAUCHER DISEASE

.

.

GLUTARICACIDURIA, TYPE 1

231670

GCDH (GLUTARYL COA DEHYDROGENASE)

231670

.

GLYCERIC ACIDURIA   See HYPEROXALURIA, PRIMARY, TYPE 2    
GLYCINE ENCEPHALOPATHY   See NONKETOTIC HYPERGLYCINEMIA    
GLYCINEMIA, KETOTIC   See PROPIONIC ACIDEMIA    
GLYCOGEN DEBRANCHER DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 3    
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM   See GLYCOGEN STORAGE DISEASE, TYPE 2    
GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)   See GLYCOGEN STORAGE DISEASE, TYPE 9C    
GLYCOGEN PHOSPHORYLASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 6    
GLYCOGEN STORAGE CARDIOMYOPATHY   See GLYCOGEN STORAGE DISEASE, TYPE 2B    
GLYCOGEN STORAGE DISEASE OF HEART   See GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL    

GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
» PHOSPHORYLASE KINASE DEFICIENCY OF HEART
» GLYCOGEN STORAGE DISEASE OF HEART

261740 PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)
602743  

GLYCOGEN STORAGE DISEASE, TYPE 0
» GSD TYPE 0
» LIVER GLYCOGEN SYNTHASE DEFICIENCY

240600

GYS2 (GLYCOGEN SYNTHASE 2)

138571  

GLYCOGEN STORAGE DISEASE, TYPE 1A
» GSD TYPE 1A
» VON GIERKE SYNDROME 

232200

G6PC (GLUCOSE-6-PHOSPHATASE)

232200

 

GLYCOGEN STORAGE DISEASE, TYPE 1B
» GSD TYPE 1B
232220 G6PT1 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1, GLUCOSE-6-PHOSPHATE TRANSLOCASE) 602671  
GLYCOGEN STORAGE DISEASE, TYPE 2
» GSD TYPE 2
» ACID ALPHA-GLUCOSIDASE DEFICIENCY
» POMPE DISEASE
» GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
» CARDIOMEGALIA GLYCOGENICA DIFFUSA
» ACID MALTASE DEFICIENCY
» ALPHA-1,4-GLUCOSIDASE DEFICIENCY
232300 GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) 606800  

GLYCOGEN STORAGE DISEASE, TYPE 2B
» GSD TYPE 2B
» VACUOLAR CARDIOMYOPATHY AND MYOPATHY (X-LINKED)
» LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY
» GLYCOGEN STORAGE CARDIOMYOPATHY
» PSEUDOGLYCOGENOSIS 2
GLYCOGEN STORAGE DISEASE LIMITED TO THE HEART
» ANTOPOL DISEASE
» DANON DISEASE

300257

LAMP2 (LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2)

309060  
GLYCOGEN STORAGE DISEASE, TYPE 3
» GSD TYPE 3
» FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY
232400 AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) 610860  
GLYCOGEN STORAGE DISEASE, TYPE 4
» GSD TYPE 4
» GLYCOGEN BRANCHING ENZYME DEFICIENCY
» GBE1 DEFICIENCY
» ANDERSEN DISEASE
» BRANCHER DEFICIENCY
» GLYCOGENOSIS 4
» AMYLOPECTINOSIS
232500 GBE1 (GLYCOGEN BRANCHING ENZYME) 607839  

GLYCOGEN STORAGE DISEASE, TYPE 5
» GSD TYPE 5
» MCARDLE DISEASE
» MYOPHOSPHORYLASE DEFICIENCY

232600

PYGM (GLYCOGEN PHOSPHORYLASE, MUSCLE, MYOPHOSPHORYLASE)

608455  
GLYCOGEN STORAGE DISEASE, TYPE 6
» GSD TYPE 6
» HERS DISEASE
» GLYCOGEN PHOSPHORYLASE DEFICIENCY
232700 PYGL (GLYCOGEN PHOSPHORYLASE, LIVER) 232700  
GLYCOGEN STORAGE DISEASE, TYPE 7
» GSD TYPE 7
» TARUI DISEASE
» MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
 232300 PFKM (PHOSPHOFRUCTOKINASE, MUSCLE TYPE)  606800  
GLYCOGEN STORAGE DISEASE, TYPE 8   See GLYCOGEN STORAGE DISEASE, TYPE 9A    
GLYCOGEN STORAGE DISEASE, TYPE 9A
» GSD TYPE 9A
» LIVER PHOSPHORYLASE KINASE DEFICIENCY
» LIVER GLYCOGENOSIS (X-LINKED)
» GLYCOGEN STORAGE DISEASE, TYPE 8
» GSD TYPE 8
 306000 PHKA2 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-2 SUBUNIT) 306000  

GLYCOGEN STORAGE DISEASE, TYPE 9C
» GSD TYPE 9C
» GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)

604549  PHKG2 (PHOSPHORYLASE KINASE, TESTIS / LIVER, GAMMA-2) 172471   
GLYCOGEN STORAGE DISEASE, TYPE 9D
» GSD TYPE 9D
» MUSCLE PHOSPHORYLASE KINASE DEFICIENCY
» MUSCLE GLYCOGENOSIS (X-LINKED)
300559 PHKA1 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT) 311870  
GLYCOGEN STORAGE DISEASE, TYPE 11
» GSD TYPE 11
» FANCONI-BICKEL SYNDROME
» HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME
» PSEUDO-PHLORIZIN DIABETES
227810 SLC2A2 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER, MEMBER 2, GLUT2) 138160  
GLYCOLIC ACIDURIA   See HYPEROXALURIA, PRIMARY, TYPE 1    
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF   See GIANT PLATELET SYNDROME    
GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 2    
GM2-GANGLIOSIDOSIS, TYPE 2   See SANDHOFF DISEASE    
GM2-GANGLIOSIDOSIS, TYPE AB   See TAY-SACHS DISEASE, AB VARIANT    

GONADAL DYSGENESIS, XY FEMALE TYPE, GDXY
» SWYER SYNDROME
» SEX-REVERSAL

306100

SRY (SEX-DETERMINING REGION Y, TESTIS-DETERMINING FACTOR, TDF)

480000

Whole Gene or Positive / Negative
GORDON HYPERKALEMIA-HYPERTENSION SYNDROME   See PSEUDOHYPOALDOSTERONISM, TYPE 2    

GORLIN SYNDROME

.

See BASAL CELL NEVUS SYNDROME

.

.

GOUT, HPRT-RELATED
»
KELLEY-SEEGMILLER SYNDROME 
300323 HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT) 308000  
GOUTY NEPHROPATHY   See FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ    

GRACILE SYNDROME
» GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
» FINNISH LETHAL NEONATAL METABOLIC SYNDROME
» LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS
» FELLMAN SYNDROME

603358 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 .

GRAVES DISEASE

275000

TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372  

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
» POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE

175700 GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) 165240   Deletions
GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)   See PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE    
GROWTH HORMONE DEFICIENCY, ISOLATED   See PITUITARY DWARFISM 1    
GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)   See PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)    
GROWTH HORMONE INSENSITIVITY SYNDROME   See PITUITARY DWARFISM 2    
GROWTH HORMONE RECEPTOR DEFICIENCY   See PITUITARY DWARFISM 2    
GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH . See GRACILE SYNDROME    
GRUBER SYNDROME   See MECKEL SYNDROME, TYPE 1    
See MECKEL SYNDROME, TYPE 3    
GSD TYPE 0   See GLYCOGEN STORAGE DISEASE, TYPE 0    
GSD TYPE 1A   See GLYCOGEN STORAGE DISEASE, TYPE 1A    
GSD TYPE 1B   See GLYCOGEN STORAGE DISEASE, TYPE 1B    
GSD TYPE 2   See GLYCOGEN STORAGE DISEASE, TYPE 2    
GSD TYPE 2B   See GLYCOGEN STORAGE DISEASE, TYPE 2B    
GSD TYPE 3   See GLYCOGEN STORAGE DISEASE, TYPE 3    
GSD TYPE 4   See GLYCOGEN STORAGE DISEASE, TYPE 4    
GSD TYPE 5   See GLYCOGEN STORAGE DISEASE, TYPE 5    
GSD TYPE 6   See GLYCOGEN STORAGE DISEASE, TYPE 6    
GSD TYPE 7   See GLYCOGEN STORAGE DISEASE, TYPE 7    
GSD TYPE 8   See GLYCOGEN STORAGE DISEASE, TYPE 9A    
GSD TYPE 9A   See GLYCOGEN STORAGE DISEASE, TYPE 9A    
GSD TYPE 9C   See GLYCOGEN STORAGE DISEASE, TYPE 9C    
GSD TYPE 9D   See GLYCOGEN STORAGE DISEASE, TYPE 9D    
GSD TYPE 11   See GLYCOGEN STORAGE DISEASE, TYPE 11    

GTP CYCLOHYDROLASE 1 DEFICIENCY
» GCH DEFICIENCY
» HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY
» PHENYLKETONURIA, ATYPICAL SEVERE, DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY

233910

GCH1 (GTP CYCLOHYDROLASE 1)

600225

.

GUIBAUD - VAINSEL SYNDROME   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS    

GUTTMACHER SYNDROME

.

HOXA 13

142959

.

 


#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Z

H

Disease Disease OMIM Gene Gene OMIM Comment
HADDAD SYNDROME . See CONGENITAL CENTRAL HYPOVENTILATION SYNDROME . .
HADH DEFICIENCY   See http://www.genomed.org/Clinical_Testing/tests_tab101.html#231530    

HAEMOPHILIA A

306700

F8 (FACTOR 8)

306700

Whole Gene or
Intron 22 Inversion

HAEMOPHILIA B

306900

F9 (FACTOR 9)

306900

.

HAILEY-HAILEY DISEASE
» PEMPHIGUS, BENIGN FAMILIAL
169600 ATP2C1 604384  

HALLERVORDEN-SPATZ DISEASE
» PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN

» NEUROAXONAL DYSTROPHY, JUVENILE-ONSET

234200

PANK2 (PANTOTHENATE KINASE 2)

606157

.

PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) 603604  
HAND-FOOT-GENITAL SYNDROME . See HAND-FOOT-UTERUS SYNDROME . .

HAND-FOOT-UTERUS SYNDROME
» HAND-FOOT-GENITAL SYNDROME

140000

HOXA 13

142959

.

.
HANHART DWARFISM   See PITUITARY DWARFISM 3    
HANHART DWARFISM
PITUITARY HORMONE DEFICIENCY, COMBINED
  See PITUITARY DWARFISM 3    
HAPPLE SYNDROME   See CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2    
HARLEQUIN ICHTHYOSIS   See ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE    
HARP SYNDROME (HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION) 607236 PANK2  (PANTOTHENATE KINASE 2) 606157

.

HAW RIVER SYNDROME, HRS

140340

DRPLA (ATROPHIN 1)

125370

Repeat

HAY-WELLS SYNDROME

.

See ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE

.

.

HEART BLOCK, FAMILIAL

113900

SCN5A

600163

See also LONG QT SYNDROME

HEART-HAND SYNDROME   See HOLT - ORAM SYNDROME, HOS1    
HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO 600263

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

 
107470  

HEMANGIOMA

.

See CEREBELLAR HEMANGIOMA

.

.

HEMATURIA, BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY
141200 COL4A3  120070  .  
COL4A4  120131 .  
HEMERALOPIA-MYOPIA   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A    
HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN   See HEMOCHROMATOSIS, JUVENILE    
HEMOCHROMATOSIS, JUVENILE
» HEMOCHROMATOSIS, TYPE 2, HFE2
» HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN
602390 HAMP (HEPCIDIN ANTIMICROBIAL PEPTIDE)
606464   

HEMOCHROMATOSIS, TYPE 1, HFE1

235200

HFE

235200

2 Mutations
(C282Y, H63D) or 4 Mutations (C282Y, H63D, S65C, E168X)

HEMOCHROMATOSIS, TYPE 2, HFE2   See HEMOCHROMATOSIS, JUVENILE    
HEMOCHROMATOSIS, TYPE 4, HFE4 606069

SLC40A1 (FERROPORTIN 1, IREG1, SLC11A3)

604653  
HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270  

HEMOLYTIC DISEASE, NEWBORN

.

KEL (KELL-CELLANO BLOOD GROUP SYSTEM, KELL NULL)

110900

1 Mutation: T193M

FY (DUFFY BLOOD GROUP SYSTEM)

110700

1 Mutation: G44D

JK (KIDD BLOOD GROUP SYSTEM)

111000

1 Mutation: N280D

RHD (RHESUS BLOOD GROUP D ANTIGEN)

111680

Deletion

RHCE (RHESUS BLOOD GROUP CcEe ANTIGENS)

111700

3 Mutations: P226A, I60L, S103P

HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1
235400 ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE) 604134  
HF1 (COMPLEMENT FACTOR H) 134370  

MCP (MEMBRANE COFACTOR PROTEIN, MEASLES VIRUS RECEPTOR, CD46, MIC10, TLX, TRA2.10)

120920   
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL PRF1, STX11, UNC13D    
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 2, FHL2 603553 PRF1 (PERFORIN 1, PORE-FORMING PROTEIN) 170280  See also PRF1, STX11, UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 3, FHL3 608898 UNC13D (UNC13, C. ELEGANS, HOMOLOG OF, D, MUNC13-4)
608897  See also PRF1, STX11, UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 4, FHL4 603552 STX11 (SYNTAXIN 11)
605014  See also PRF1, STX11, UNC13D

HEPATIC ADENOMA

142330

HNF1A (TCF1)

142410

.

HEPATIC AGT DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 1    
HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY 220110

SCO1 (S. CEREVISIAE, HOMOLOG OF, CYTOCHROME OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF)

603644  .
HEPATIC LIPASE DEFICIENCY
151670

LIPC (HEPATIC LIPASE, LIPH, HEPATIC TRIGLYCERIDE LIPASE, HTGL)

151670 .
HEPATOLENTICULAR DEGENERATION . See WILSON DISEASE
. .
HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME   See GLYCOGEN STORAGE DISEASE, TYPE 11    
HEPATORENAL TYROSINEMIA   See TYROSINEMIA, TYPE 1    
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER, HLRCC 605839 FH (FUMARATE HYDRATASE, FUMARASE) 136850 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F    

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, HNPP
» TOMACULOUS NEUROPATHY

162500

PMP22 (PERIPHERAL MYELIN PROTEIN)

601097

Whole Gene or Deletion

HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA   See EPISODIC ATAXIA, TYPE 2, EA2    
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4   See INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA    
HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA LETALIS    

HERMANSKY-PUDLAK SYNDROME

203300

HPS1

604982

1 Mutation: 16bp Duplication

HPS3

606118

2 Mutations: 3.9kb Deletion and IVS5+1G>A Mutation

HPS1 and HPS3

.

3 Mutations

HERS DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 6    
HETEROTAXY, VISCERAL (X-LINKED)
» SITUS INVERSUS (X-LINKED)
306955 ZIC3  300265 .
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
» PERIVENTRICULAR NODULAR HETEROTOPIA 4
300537 FLNA (FILAMIN A) 300017  
HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)
» PERIVENTRICULAR NODULAR HETEROTOPIA 1
» NODULAR HETEROTOPIA
» BILATERAL PERIVENTRICULAR
HETEROTOPIA
» PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA
300049 FLNA (FILAMIN A) 300017  
HEXOSAMINIDASE ACTIVATOR DEFICIENCY   See TAY-SACHS DISEASE, AB VARIANT    
HEXOSAMINIDASE A DEFICIENCY   See TAY-SACHS DISEASE    
HEXOSAMINIDASES A AND B DEFICIENCY   See SANDHOFF DISEASE    

HIBERNIAN FEVER, FAMILIAL
» FAMILIAL PERIODIC FEVER (AUTOSOMAL DOMINANT)
» TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME, TRAPS

142680

TNFRSF1A (TNFR1)

191190

Exons 2-4 (> 95% of mutations)

HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME   See MOWAT-WILSON SYNDROME    

HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME, LATE INFANTILE

. 

ZFHX1B (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD-INTERACTING PROTEIN 1, SMADIP1, SIP1) 605802

Whole Gene or MLPA

HIRSCHSPRUNG DISEASE, TYPE 1
» AGANGLIONIC MEGACOLON

142623 RET  (RET KINASE) 164761 Whole Gene

HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA

.

PHOX2B

603851

.

HMG-COA LYASE DEFICIENCY
» HMG-COA SYNTHETASE DEFICIENCY

246450

HMGCL (HMG - COA SYNTHETASE)

246450

.

HNPCC

.

See COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS

.

.

HOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE

211600

 

ATP8B1 (FIC1)

602397

.

HOLOPROSENCEPHALY

.

SHH, SIX3, TGIF and ZIC2

.

Screening for Frequent Mutations in 4 Genes

HOLOPROSENCEPHALY 2, HPE2

157170

SIX3

603714

See also HOLOPROSENCEPHALY

HOLOPROSENCEPHALY 3, HPE3

142945

SHH (SONIC HEDGEHOG)

600725

See also HOLOPROSENCEPHALY

HOLOPROSENCEPHALY 4, HPE4

142946

TGIF

602630

See HOLOPROSENCEPHALY

HOLOPROSENCEPHALY 5, HPE5

603073

ZIC2 (ZINC FINGER PROTEIN OF CEREBELLUM, 2)

603073

See also HOLOPROSENCEPHALY

HOLOPROSENCEPHALY 7, HPE7

601309

PTCH (PATCHED, PTC)

601309

.

HOLT - ORAM SYNDROME, HOS1
» HEART-HAND SYNDROME

142900

TBX5 (T-BOX 5)

601620

Whole Gene or Deletions
HOMOCYSTINURIA
» CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
236200 CBS (CYSTATHIONINE BETA-SYNTHASE) 236200 Whole Gene or Exons 4 and 8 (Including GLY307SER and ILE278THR)
HOPF DISEASE . See ACROKERATOSIS VERRUCIFORMIS .  

HOYERAAL-HREIDARSSON SYNDROME

300240

DKC1 (DYSKERIN)

300126

.

HPRT DEFICIENCY    See LESCH - NYHAN SYNDROME, LNS    
HPRT1 DEFICIENCY   See LESCH - NYHAN SYNDROME, LNS    
HSAN1   See NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1    

HUNTER SYNDROME

.

See MUCO-POLYSACCHARIDOSIS, TYPE 2

.

.

HUNTINGTON CHOREA

143100

HD (HUNTINGTIN)

143100

Repeat

HUNTINGTON DISEASE-LIKE 1, HDL1 603218 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction
HUNTINGTON DISEASE-LIKE 2, HDL2 606438

JPH3 (JUNCTOPHILIN 3)

605268  Repeat
HUNTINGTON DISEASE-LIKE 4, HDL4   See SPINOCEREBELLAR ATAXIA 17, SCA17    
HUTCHINSON-GILFORD PROGERIA SYNDROME 176670 LMNA (LAMIN A/C) 150330  

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS, HSAS
» AQUEDUCTAL STENOSIS (X-LINKED)

307000

L1 (L1CAM)

308840

.

HYPERANDROGENISM
. CYP21A2 201910 Whole Gene and MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg
HYPERCHOLESTEROLEMIA 144010 APOB (APOLIPOPROTEIN B) 107730 3 mutations: R3500Q, R3500W, H3543Y

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT)

143890

LDLR  (LDL RECEPTOR)

606945

Whole Gene LDLR + 3 Exons in APOB

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B
» APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE
144010 APOB (APOLIPOPROTEIN B, APOB100,
APOB48)
 
107730 2 Mutations: R3500Q  and R3531C
HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 603813 ARH 605747  
HYPERCHYLOMICRONEMIA 207750 APOC2 (APOLIPOPROTEIN C2) 207750  
HYPERCHYLOMICRONEMIA   See HYPERLIPOPROTEINEMIA TYPE 1    

HYPEREKPLEXIA
» STARTLE DISEASE
» KOK DISEASE
» STIFF BABY SYNDROME

149400

GLRA1 (GLYCIN RECEPTOR )

138491

Frequent mutations

HYPEREOSINOPHILIC SYNDROME   JAK2 (JANUS KINASE 2) 147796 1Common Mutation: V617F
HYPERFERRITINEMIA-CATARACT SYNDROME 600886 FTL (FERRITIN LIGHT CHAIN) 134790  
HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA   See PROPIONIC ACIDEMIA    
HYPERGONADOTROPIC HYPOGONADISM, FEMALE . 

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   
152790  

HYPER-IGD SYNDROME
» PERIODIC FEVER, DUTCH TYPE

260920

MVK (MEVALONATE KINASE)

251170

.

HYPER-IGM IMMUNODEFICIENCY (X-LINKED) . See IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1, HIGM1 .  
HYPER-IgM SYNDROME   See IMMUNODEFICIENCY WITH HYPER-IgM    
HYPER-IGM SYNDROME 1 . See IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1, HIGM1 .  
HYPER-IgM SYNDROME 2   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2    
HYPER-IgM SYNDROME 3   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3    
HYPER-IgM SYNDROME 5   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5    
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1    
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6    

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
»HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

256450 ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1) 600509  
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 3 602485 GCK  (GLUCOKINASE) 138079  
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 5 609968 INSR (INSULIN RECEPTOR) 147670  

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6
»HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

606762

GLUD1 (GLUTAMATE DEHYDROGENASE 1)

138130  Exons 6, 7, 10, 11 and 12
HYPERINSULINISM (AUTOSOMAL RECESSIVE)   See NESIDIOBLASTOSIS    
HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1    
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6    
HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1    
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6    
See NESIDIOBLASTOSIS    
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6    

HYPERKALEMIC PERIODIC PARALYSIS, HYPP
» MYOTONIA CONGENITA, ATYPICAL

170500

SCN4A

603967

Exons 9, 12-14, 19, 21-24

HYPERKERATOSIS-CONTRACTURE SYNDROME   See TIGHT SKIN CONTRACTURE SYNDROME, LETHAL    
HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS . See CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS . .
HYPERKERATOSIS, EPIDERMOLYTIC . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . .
HYPERKERATOSIS, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA . See EPIDERMOLYTIC PALMOPLANTAR KERATODERMA . .
HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . .
HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA . See NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA . .

HYPERKERATOSIS, PALMOPLANTAR KERATODERMA WITH DEAFNESS

..

See PALMOPLANTAR KERATODERMA WITH DEAFNESS

.

.

HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS   See CEREBRAL CAVERNOUS MALFORMATIONS, CCM1    
HYPERLIPOPROTEINEMIA TYPE 1
» LIPOPROTEIN LIPASE DEFICIENCY
» HYPERCHYLOMICRONEMIA
238600 LPL (LIPOPROTEIN LIPASE) 238600  
HYPERLIPOPROTEINEMIA, TYPE 3   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E    

HYPEROXALURIA, PRIMARY, TYPE 1
» OXALOSIS 1
» GLYCOLIC ACIDURIA
» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY
» HEPATIC AGT DEFICIENCY
» SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY

259900

AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)

604285 Whole Gene or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations)

HYPEROXALURIA, PRIMARY, TYPE 2
» OXALOSIS 2
» GLYCERIC ACIDURIA
» GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY
» D-GLYCERATE DEHYDROGENASE DEFICIENCY

260000

GRHPR (GLYOXYLATE REDUCTASE / HYDROXYPYRUVATE REDUCTASE, GLXR)

604296 Whole Gene or 1 Mutation: 103delG

HYPERPHENYLALANINEMIA

.

See PHENYLKETONURIA

.

.

HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY   See GTP CYCLOHYDROLASE 1 DEFICIENCY    
HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL   See PSEUDOHYPOALDOSTERONISM, TYPE 2    
HYPERPROSTAGLANDIN E SYNDROME 1   See BARTTER SYNDROME, ANTENATAL, TYPE 1    
HYPERPROSTAGLANDIN E SYNDROME, TYPE 2   See ANTENATAL BARTTER SYNDROME, TYPE 2    
HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY    
HYPERTENSION, EARLY-ONSET (AUTOSOMAL DOMINANT) 605115 NR3C2 (MINERALOCORTICOID RECEPTOR, MLR, MCR, MR, ALDOSTERONE RECEPTOR) 600983  
HYPERTENSIVE HYPERKALEMIA, FAMILIAL   See PSEUDOHYPOALDOSTERONISM, TYPE 2    
HYPERTHYROIDISM   TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372  
HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION   See THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY    
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES   See THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL DOMINANT)    
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
  ACTC
MYL2
MYL3
. 19 Exons

MYH7
MYBPC3
TNNT2
TNNI3
TPM1

. 106 Exons
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
192600 ACTC (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN) 102540 See ACTC, MYL2 and MYL3

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

192600 MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) 160760 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 2, CMH2
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

115195 TNNT2  191045 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 3, CMH3
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

115196

TPM1 (TROPOMYOSIN 1)

191010

See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 4A, CMD4A
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

115197 MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC) 600958 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 7, CMH7
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

191044 TNNI3 (TROPONIN I, CARDIAC) 191044  See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1

608751

MYL3 (MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW, ESSENTIAL LIGHT CHAIN OF MYOSIN)

160790  See ACTC, MYL2 and MYL3

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2

608758

MYL2 (MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW)

160781  See ACTC, MYL2 and MYL3
HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL    
HYPOADRENALISM WITH ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1    
HYPO-ALPHALIPOPROTEINEMIA 604091 APOA1 (APOLIPOPROTEIN A-1) 107680 L178P Mutation

HYPO-ANHIDROTIC ECTODERMAL DYSPLASIA (X-LINKED), ED1

305100

ED1  (ECTODYSPLASIN A, EDA)

300451

.

HYPOBETALIPOPROTEINEMIA, FAMILIAL
» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE
» FAMILIAL HYPOBETALIPOPROTEINEMIA
» ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA
107730 APOB (APOLIPOPROTEIN B, APOB100,
APOB48)
 
107730 Whole Gene

HYPOCALCEMIA (AUTOSOMAL DOMINANT)

601198

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

.

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS . See VITAMIN D-DEPENDENT RICKETS, TYPE 2A . .

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1
» FAMILIAL BENIGN HYPERCALCEMIA 1

145980

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

.

HYPOCHONDROGENESIS   COL2A1 120140  

HYPOCHONDROPLASIA

146000

FGFR3

134934

7 Mutations: I538V, N540T, N540S, N540K, K650N, K650M, K650Q

HYPODONTIA/OLIGODONTIA 3
» TOOTH AGENESIS, SELECTIVE, 3
604625 PAX9 (PAIRED BOX GENE 9) 167416  
HYPOGAMMAGLOBULINEMIA, ACQUIRED   See COMMON VARIABLE IMMUNODEFICIENCY    
HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1    
See