Jewish Genetic Diseases OMIM Link
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Location
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Ashkenazi, Sfardi.
Carrier frequency
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Page
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Chrom. 1
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GLYCOGEN STORAGE DISEASE III 232400
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1p21-1p21
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S 1:35
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65
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GAUCHER DISEASE, TYPE I; GD I 230800
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1q21-1q21
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A 1:7-18
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58
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Chrom. 2
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CYSTINURIA; CSNU 220100
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2p21-2p21
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S 1:25
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36
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LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B 253601
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2p13
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S 1:10
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79
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NEMALINE MYOPATHY 256030
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2q22
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A 1:108
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99
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CEREBROTENDINOUS XANTHOMATOSIS 213700
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2q33-ter
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S 1:70
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24
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Chrom.3
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GLUTATHIONE PEROXIDASE; GPX1 138320
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3p21.3
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A
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---
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PSEUDOCHOLINESTERASE DEFICIENCY (E1) 177400
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3q26.1-q26.2
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S 1:9
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121
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Chrom. 4
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PTA DEFICIENCY, Factor XI deficiency 264900
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4q35
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A 1:12
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49
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Chrom. 5
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COMPLEMENT C7 DEFICIENCY 217070
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5p13
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S 1:100
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30
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ADENOMATOUS POLYPOSIS OF THE COLON; APC 175100
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5q21-5q22
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A 1:14-20
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27
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Chrom. 6
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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 201910
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6p21.3
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A 1:6
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6
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Chrom. 7
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CYSTIC FIBROSIS; CF 219700
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7q31.2-7q31.3
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A 1:25
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34
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LIPOAMIDE DEHYDROGENASE DEFICIENCY 246900
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7q31-q32
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A 1:94
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80
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Chrom. 8
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CORTICOSTERONE METHYL OXYDASE II DEF 124080
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8q21
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S 1:30
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32
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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY 202010
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8q21-8q22
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S 1:30
1:128
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7
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Chrom. 9
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INCLUSION BODY MYOPATHY; IBM2 600737
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9p13-9p12
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S 1:12
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76
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FANCONI ANEMIA 227645
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9q22.3
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A 1:77-218
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53
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DYSAUTONOMIA, FAMILIAL; DYS 223900
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9q31-9q33
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A 1:30
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43
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DYSTONIA 1, TORSION; DYT1 128100
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9q34
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A 1:4,000
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75
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Chrom. 10
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USHER SYNDROMES 602083
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10q21-10q22
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A 1:72
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135
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DUBIN JOHNSON SYNDROME (DJS) 237500
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10q24
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S 1:100
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42
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Chrom. 11
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HEMOGLOBIN--BETA LOCUS; HBB , beta-thalassemia 141900
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11p15.5
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S 1:6
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131
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NIEMANN-PICK DISEASE 257200
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11p15.3-11p15.4
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A 1:90
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102
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SULFONYLUREA RECEPTOR; SUR 600509
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11p15.1
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A 1:125
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111
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ALBINISM OCULOCUTANEOUS 203100
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11q14-q21
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S 1:30
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10
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ATAXIA TELANGIECTASIA 208900
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11q22-23
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S 1:80
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12
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Chrom. 12
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PAROTID SALIVARY GLYCOPROTEIN; G1 168840
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12p13.2
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A
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---
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PHENYLKETONURIA; PKU1 261600, 261630
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12q22-12q24.2
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S 1:35
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113
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Chrom. 13
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GAP JUNCTION PROTEIN, BETA-2, 26 KD; GJB2 ,Deafness 121011
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13q11-13q12.1
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A 1:25
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37
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BREAST CANCER 2, EARLY-ONSET; BRCA2 600185
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13q12.3-13q13
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A+S 1:75
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16
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FACTOR VII DEFICIENCY 227500
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13q34
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S 1:42
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48
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Chrom. 15
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TAY-SACHS DISEASE; TSD 272800
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15q23-15q24
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A+S 1:25
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128
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BLOOM SYNDROME; BLM 210900
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15q26.1
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S 1:94
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15
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Chrom. 16
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MEDITERRANEAN FEVER, FAMILIAL; MEFV 249100
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16p13.3
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S+A 1:7
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51
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Chrom. 17
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PENTOSURIA 260800
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17
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A 1:35
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108
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SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM
,Canavan disease 271900
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17pter-17p13
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A 1:41-60
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21
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CYSTINOSIS 219800
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17p13
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S 1:100
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35
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BREAST CANCER, TYPE 1; BRCA1 113705
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17q11-17q21
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A 1:100
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16
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GLYCOGEN STORAGE DISEASE I; GSD-I 232200
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17q21
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A 1:71
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64
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THROMBASTHENIA (GLANZMANN) 273800
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17q21.32
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S 1:40
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133
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Chrom. 18
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MONILETHRIX 252200
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18q
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S 1:10
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90
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Chrom. 19
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MUCOLIPIDOSIS IV 252650
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19p13.3-19p13.2
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A 1:100-112
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92
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HYPERCHOLESTEROLEMIA, FAMILIAL; FHC 143890
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19p13.2
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A 1:69
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74
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MAPLE SYRUP URINE DISEASE 248600
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19q13.1-q13.2
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A 1:113
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82
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MYOTONIC DYSTROPHY 160900
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19q13.2-q13.3
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S 1:2000
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98
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Chrom. 21
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AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY; APECED 240300
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21q22.3
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S 1:50
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115
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Chrom. 22
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METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE 250100
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22q13.31-qter
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S 1:50
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85
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Chrom. X
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MUCOPOLYSACCHARIDOSIS TYPE II Hunter syndrome 309900
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Xq27.3-Xq28
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A+S
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73
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GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD 305900
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Xq28
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S 1:4 males
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62
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