Make your own free website on Tripod.com

Disorder

OMIM

Gene

Location

ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3

*170995

ABCD3

1p22-p21

MAPLE SYRUP URINE DISEASE, TYPE II

*248610

DBT

1p31

LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2

#204100

RPE65

1p31

CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1

#256730

PPT1

1p32

FUCOSIDOSIS

*230000

FUCA1

1p34

MUSCLE-EYE-BRAIN DISEASE; MEB

#253280

MEB

1p34-p32

HYPERPROLINEMIA, TYPE II

#239510

ALDH4

1p36

HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA

#241200

CLCNKB

1p36

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

#255800

HSPG2

1p36.1

GALACTOSE EPIMERASE DEFICIENCY

*230350

GALE

1p36-p35

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

#256800

NTRK1

1q21-q22

ZELLWEGER SYNDROME; ZS

#214100

PEX19

1q22

MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5

*605481

MCPH5

1q31

LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

#204000

CRB1

1q31-q32.1

FUMARASE DEFICIENCY

#606812

FH

1q42.1

HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD

*241410

HRD

1q42-q43

5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR

*156570

MTR

1q43

ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

#202370

PEX10

Chr.1

GLYCERONEPHOSPHATE O-ACYLTRANSFERASE; GNPAT

*602744

GNPAT

Chr.1

ZELLWEGER SYNDROME; ZS

#214100

PEX10

Chr.1

ZELLWEGER SYNDROME; ZS

#214100

PEX13

2p15

WRINKLY SKIN SYNDROME; WSS

*278250

WSS

2q32

BRACHYDACTYLY-MENTAL RETARDATION SYNDROME

*600430

BDMR

2q37

BARDET-BIEDL SYNDROME 3; BBS3

*600151

BBS3

3p13-p12

GLYCINE ENCEPHALOPATHY; GCE

#605899

AMT

3p21.2-p21.1

THYROTROPIN-RELEASING HORMONE DEFICIENCY

*275120

TRH

3q13.3-q21

USHER SYNDROME, TYPE III; USH3

#276902

USH3A

3q21-q25

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3

#604292

TP63

3q27

RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH BILATERAL GLAUCOMA, CATARACTS, AND BAND KERATOPATHY

#604278

SLC4A4

4q21

MOLYBDENUM COFACTOR DEFICIENCY

#252150

MOCS2

5q11

SOTOS SYNDROME

#117550

NSD1

5q35

MOLYBDENUM COFACTOR DEFICIENCY

#252150

MOCS1

6p21.3

ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1

*271980

SSADH

6p22

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

*600901

FANCE

6p22-p21

LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

#204000

LCA5

6q11-q16

SIALURIA, FINNISH TYPE

#604369

SLC17A5

6q14-q15

ZELLWEGER SYNDROME; ZS

#214100

PEX3

6q23-q24

SHWACHMAN-DIAMOND SYNDROME; SDS

*260400

SDS

 7p11-q11

ZELLWEGER SYNDROME; ZS

#214100

PEX1

7q21-q22

REFSUM DISEASE, INFANTILE FORM

#266510

PEX1

7q21-q22

PENDRED SYNDROME; PDS

#274600

SLC26A4

7q31

SACCHAROPINURIA

*268700

AASS

 7q31.3

PFEIFFER SYNDROME

#101600

FGFR1

8p11.2-p11.1

REFSUM DISEASE, INFANTILE FORM

#266510

PEX2

8q21.1

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

*259730

CA2

 8q22

ROTHMUND-THOMSON SYNDROME; RTS

 8q24.3

RECQL4

 8q24.3

GLYCINE ENCEPHALOPATHY; GCE

#605899

GLDC

9p22

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE

#268310

ROR2

9q22

BASAL CELL NEVUS SYNDROME; BCNS

#109400

PTCH

9q22.3

BASAL CELL NEVUS SYNDROME; BCNS

#109400

NBCCS

9q31

FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD

*253800

FCMD

 9q31

TUBEROUS SCLEROSIS; TS

#191100

TSC1

9q34

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY; BSCL

#269700

BSCL

 9q34

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc

#266265

FUCT1

 Chr.11

CEREBROOCULOFACIOSKELETAL SYNDROME

#214150

ERCC6

10q11

PFEIFFER SYNDROME

#101600

FGFR2

10q26

USHER SYNDROME, TYPE IC; USH1

#276904

USH1C

11p15.1

NIEMANN-PICK DISEASE

*257200

SMPD1

 11p15.4-p15.1

SMITH-LEMLI-OPITZ SYNDROME; SLOS

#270400

DHCR7

 11q12-q13

PERNICIOUS ANEMIA, CONGENITAL

*261000

GIF

 11q13

PYRUVATE CARBOXYLASE DEFICIENCY

*266150

PC

11q13.4-q13.5

MYOSIN VIIA; MYO7A, USHER SYNDROME, TYPE IB

*276903

MYO7A

11q13.5

6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS

*261640

PTS

 11q22.3-q23.3

ZELLWEGER SYNDROME; ZS

#214100

PEX5

12p13.3

PACHYONYCHIA CONGENITA, TYPE 2; PC2

#167210

KRT6B

12q13

PACHYONYCHIA CONGENITA, TYPE 1; PC1

#167200

KRT6A

12q13

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

#310200

MYF6

12q21

PHENYLKETONURIA

*261600

PAH

 12q24.1

TYROSINEMIA, TYPE III

*276710

HPD

12q24-qter

CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5

*256731

CLN5

 13q21.1-q32

CEREBROOCULOFACIOSKELETAL SYNDROME

#214150

ERCC5

13q33

LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

#204000

LCA6

14q11

LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

#204000

LCA3

14q24

MOLYBDENUM COFACTOR DEFICIENCY

#252150

GPH

14q24

THYROTROPIN, UNRESPONSIVENESS TO

#275200

TSHR

14q31

USHER SYNDROME, TYPE IA; USH1A

*276900

USH1A

14q32

PRADER-WILLI SYNDROME; PWS

#176270

PWCR

15q11

PRADER-WILLI SYNDROME; PWS

#176270

NDN

15q11-q13

PRADER-WILLI SYNDROME; PWS

#176270

SNRPN

15q12

CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY

*218000

ACCPN

15q13-q15

TUBEROUS SCLEROSIS; TS

#191100

TSC2

16p13.3

TYROSINE TRANSAMINASE DEFICIENCY

*276600

TAT

16q22.1-q22.3

GLYCINE ENCEPHALOPATHY; GCE

#605899

GCSH

16q24

SJOGREN-LARSSON SYNDROME

*270200

ALDH3A2

 17p11.2

LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

#204000

LCA1

17p13.1

NEUROFIBROMATOSIS, TYPE I; NF1

*162200

NF1

17q11.2

PACHYONYCHIA CONGENITA, TYPE 2; PC2

#167210

KRT17

17q12-q21

PACHYONYCHIA CONGENITA, TYPE 1; PC1

#167200

KRT16

17q12-q21

CONE-ROD DYSTROPHY 1; CORD1

*600624

CORD1

18q21.1-q21.3

THYROID HORMONOGENESIS, GENETIC DEFECT IN, I

#274400

SLC5A5

19p13.2-p12

CEREBROOCULOFACIOSKELETAL SYNDROME

#214150

ERCC2

19q13.2-q13.3

TRICHOTHIODYSTROPHY; TTD

#601675

ERCC2

19q13.2-q13.3

LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1

#204000

CRX

19q13.3

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME

#242860

DNMT3B

20q11.2

5-@OXOPROLINURIA

#266130

GSS

 20q11.2

NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY

*256540

PPGB

20q13.1

TRANSCOBALAMIN II DEFICIENCY

*275350

TCN2

22q11.2-qter