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Chapter 9: Genetic disorders and diseases
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We are for promoting and expanding all human races to live together in peace and harmony. We even believe that all human races should be able to travel to space, and expand all the races on different planets and moons. We could even gather and harvest many ideas from trillions of people in the Universe. We can eliminate disease and poverty, and work on making the Universe a better place for all to live.
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List of genetic disorders
https://en.wikipedia.org/wiki/List_of_genetic_disorders
Sortable table Disorder name Mutation type Chromosome 1p36 deletion syndrome D 1p36 18p deletion syndrome D 18p 21-hydroxylase deficiency
6p21.3 47,XXX
see triple X syndrome C X 47,XXY
see Klinefelter syndrome C X 5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency
AAT
see alpha 1-antitrypsin deficiency
14q32 aceruloplasminemia
3p26.3 Achondrogenesis type II
12q13.11 achondroplasia substitution 4p16.3 Acrocephaly
see Apert syndrome
10q26.13 acute intermittent porphyria
adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Alagille syndrome
Albinism
Alexander disease
alkaptonuria
ALS
see amyotrophic lateral sclerosis
Alström syndrome
Alzheimer’s disease
Amelogenesis imperfecta
androgen insensitivity syndrome
Anemia
Angelman syndrome
ataxia telangiectasia
B variant of the Hexosaminidase GM2 gangliosidosis
see Sandhoff disease
Beare-Stevenson cutis gyrata syndrome
10q26 Benjamin syndrome
biotinidase deficiency
Birth Defects
Bloom syndrome
15q26.1 Birt–Hogg–Dubé syndrome
17 Broad Thumb-Hallux syndrome
see Rubinstein-Taybi syndrome
CADASIL syndrome P 3 CGD Chronic granulomatous disorder
Campomelic dysplasia C 17q24.3-q25.1 Canavan disease
Cancer
Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome D 22q CF
see cystic fibrosis[1] D (most common);
or substitution CFTR (7q31.2) Charcot–Marie–Tooth disease
CHARGE syndrome
Chondrodystrophy with dysplasia
see otospondylomegaepiphyseal dysplasia
Cockayne syndrome
Coffin–Lowry syndrome
collagenopathy, types II and XI
Cowden syndrome
CPO deficiency
see hereditary coproporphyria
Cri du chat D 5p Crohn’s disease, P 16q12 Crouzon syndrome
FGFR2 (10q25.3-q26) Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome
cutis gyrata syndrome of Beare-Stevenson
see Beare-Stevenson cutis gyrata syndrome
Genetic hypercalciuria
see Dent’s disease
Xp11.22 de Grouchy syndrome 1
see De Grouchy syndrome D 18p Di George’s syndrome D 22q distal hereditary motor neuropathy
Ehlers–Danlos syndrome
Erythroblastic anemia
see beta-thalassemia
FA
see fanconi anemia
Fabry disease P Xq22.1 factor V Leiden thrombophilia
familial adenomatous polyposis
familial dysautonomia
FG syndrome
Friedreich’s ataxia
G6PD deficiency
galactosemia
Gaucher disease
Glioma, retinal
see retinoblastoma
Glycine encephalopathy
see Nonketotic hyperglycinemia
Haemochromatosis
see hemochromatosis
Harlequin type ichthyosis
hemophilia
hepatoerythropoietic porphyria
Hereditary coproporphyria P 3q12 Hereditary hemorrhagic telangiectasia (HHT)
Hereditary Inclusion Body Myopathy
see skeletal muscle regeneration
Hereditary multiple exostoses
Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia
see Friedreich’s ataxia
HNPP
see hereditary neuropathy with liability to pressure palsies
homocystinuria
Huntington’s disease T 4p16.3 Hutchinson–Gilford progeria syndrome
see progeria
hyperoxaluria, primary
hyperphenylalaninemia
Hypochondrogenesis
Hypochondroplasia
4p16.3 ICF syndrome
see Immunodeficiency, centromere instability and facial anomalies syndrome
20q11.2 Incontinentia pigmenti P Xq28 infantile-onset ascending hereditary spastic paralysis
Isodicentric 15
see isodicentric 15 Inv dup 15q11-14 Jackson–Weiss syndrome
Joubert syndrome
JPLS
see Juvenile Primary Lateral Sclerosis
ALS2 Keloid disorder
Kniest dysplasia
Krabbe disease
Lesch-Nyhan syndrome
Li-Fraumeni syndrome
lipoprotein lipase deficiency, familial
Marfan syndrome
15 McCune–Albright syndrome
20 q13.2-13.3 McLeod syndrome
X MEDNIK[2][3] D AP1S1 Mediterranean fever, familial
Menkes disease
Mental retardation with osteocartilaginous abnormalities
see Coffin–Lowry syndrome
Methemoglobinemia
methylmalonic acidemia
Micro syndrome
2q21.3 Microcephaly P 1q31 (ASPM) Mowat-Wilson syndrome
Mucopolysaccharidosis (MPS I)
Muenke syndrome
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
myotonic dystrophy
Neurofibromatosis type I
17q11.2 Neurofibromatosis type II
Niemann-Pick
see Niemann–Pick disease NPA, NPB, NPC1, NPC2,
Sphingomyelin phosphodiesterase 1 SMPD1 Nonketotic hyperglycinemia
see Glycine encephalopathy
nonsyndromic deafness
Noonan syndrome
Ogden syndrome P X osteogenesis imperfecta
pantothenate kinase-associated neurodegeneration
Patau Syndrome (Trisomy 13)
PCC deficiency
see propionic acidemia
PCT
see porphyria cutanea tarda
Pendred syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
phenylketonuria
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2) Polycystic Ovarian Syndrome (PCOS)
porphyria
Prader-Willi syndrome
Primary ciliary dyskinesia (PCD)
primary pulmonary hypertension
protein C deficiency
protein S deficiency
protoporphyria
see erythropoietic protoporphyria
Prion disease
pseudo-Gaucher disease
pseudoxanthoma elasticum
Rett syndrome
RSTS
see Rubinstein-Taybi syndrome
Schwartz–Jampel syndrome
SED congenita
see spondyloepiphyseal dysplasia congenita
sickle cell anemia P 11p15 Siderius X-linked mental retardation syndrome
caused by mutations in the PHF8 gene PD Xp11.22 Smith-Lemli-Opitz syndrome
Smith Magenis Syndrome
spinal muscular atrophy
spinocerebellar ataxia
SSB syndrome
see SADDAN
Stickler syndrome
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
Tay-Sachs disease
tetrahydrobiopterin deficiency
thanatophoric dysplasia
Treacher Collins syndrome
5q32-q33.1 Trisomy 21
see Down syndrome
Tuberous Sclerosis Complex (TSC) see Tuberous sclerosis
TSC1, TSC2 Turner’s syndrome
see Turner syndrome
X Usher syndrome
variegate porphyria
von Hippel-Lindau disease
Waardenburg syndrome
Weissenbacher-Zweymüller syndrome
Williams Syndrome
Wilson disease
Wolf–Hirschhorn syndrome D 4p Xeroderma pigmentosum ERCC4 15 X-linked mental retardation and macroorchidism
see fragile X syndrome
X X-linked spinal-bulbar muscle atrophy
see spinal and bulbar muscular atrophy
X X-SCID
see X-linked severe combined immunodeficiency
X XLSA
see X-linked sideroblastic anemia
X XXXX syndrome
see 48, XXXX
X XXXXX syndrome
see 49, XXXXX
X XYY syndrome
see 47,XYY syndrome
X
https://en.wikipedia.org/wiki/List_of_genetic_disorders
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Genetic Disorders in Arab Populations
http://www.cags.org.ae/cbc02ga.pdf
Genetic disorders in Arab populations as for OMIM.
http://www.cags.org.ae/cbc02ga.pdf
1. 100100 Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism Lebanon
– 2. 100640 Aldehyde Dehydrogenase 1 Family, Member A1 Egypt
– 3. 102600 Adenine Phosphoribosyltransferase ?
– 4. 102610 Actin, Alpha, Skeletal Muscle 1 Oman
– 5. 102700 Adenosine Deaminase KSA
– 6. 102730 Adenosine Deaminase, Elevated, Hemolytic Anemia due to Libya
– 7. 103000 Adenylate Kinase 1 ?
– 8. 103050 Adenylosuccinase Deficiency Morocco
– 9. 103600 Albumin Iraq
– 10. 104170 Alpha-Galactosidase B Morocco
– 11. 104210 Alpha-2A-Adrenergic Receptor Algeria
– 12. 104300 Alzheimer Disease ?
– 13. 105400 Amyotrophic Lateral Sclerosis 1 Tunisia
– 14. 106150 Angiotensin I UAE
– 15. 107300 Antithrombin III Deficiency Algeria
– 16. 107470 Interferon, Gamma, Receptor 1 Algeria, Tunisia, Sudan
– 17. 107680 Apolipoprotein A-I UAE
– 18. 107730 Apolipoprotein B ?
– 19. 107777 Aquaporin 2 Palestine
– 20. 109150 Machado-Joseph Disease Yemen
– 21. 109400 Basal Cell Nevus Syndrome Egypt
– 22. 109535 Tumor Necrosis Factor Receptor Superfamily, Member 5 KSA
– 23. 110700 Blood Group–Duffy System Yemen
– 24. 111000 Blood Group–Kidd System Tunisia
– 25. 113100 Brachydactyly, Type C Iraq
– 26. 113610 Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia Kuwait
– 27. 113705 Breast Cancer 1 Gene Morocco, Iraq, Yemen
– 28. 113900 Progressive Familial Heart Block, Type I Lebanon
– 29. 114240 Calpain 3 Lebanon
– 30. 114830 Carbonyl Reductase 1 Sudan
– 31. 117000 Central Core Disease of Muscle Algeria
– 32. 117550 Sotos Syndrome ?
– 33. 118450 Alagille Syndrome ?
– 34. 119100 Cleft Hand And Absent Tibia Algeria
– 35. 120131 Collagen, Type IV, Alpha-4 Algeria
– 36. 120160 Collagen, Type I, Alpha-2 Libya, Lebanon
– 37. 120250 Collagen, Type VI, Alpha-3 Morocco
– 38. 120290 Collagen, Type XI, Alpha-2 Morocco
– 39. 120700 Complement Component 3 Palestine, Lebanon, Kuwait
– 40. 121011 Gap Junction Protein, Beta-2 Tunisia, Egypt, Palestine, Jordan
– 41. 122100 Corneal Dystrophy, Juvenile Epithelial, of Meesmann KSA
– 42. 122470 Cornelia de Lange Syndrome ?
– 43. 123400 Creutzfeldt-Jakob Disease Tunisia, Libya, Egypt
– 44. 124030 Cytochrome P450, Subfamily IID KSA
– 45. 125630 Dermodistortive Urticaria Lebanon
– 46. 125700 Diabetes Insipidus, Neurohypophyseal Type Palestine
– 47. 126650 Solute Carrier Family 26, Member 3 Kuwait, KSA
– 48. 130070 Ehlers-Danlos Syndrome, Progeroid Form ?
– 49. 130500 Erythrocyte Membrane Protein Band 4.1 Algeria
– 50. 131244 Endothelin Receptor, Type B Tunisia
– 51. 131760 Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type ?
– 52. 133530 Excision-Repair, Complementing Defective, in Chinese Hamster, 5 Morocco
– 53. 134570 Factor XIII, A1 Subunit Morocco, Syria
– 54. 134790 Ferritin Light Chain Egypt
– 55. 135100 Fibrodysplasia Ossificans Progressiva Tunisia, Syria
– 56. 136435 Follicle-Stimulating Hormone Receptor Morocco
– 57. 136850 Fumarate Hydratase Morocco
– 58. 137167 Gamma-Glutamyl Carboxylase Lebanon
– 59. 137280 Gastritis, Familial Giant Hypertrophic Jordan
– 60. 137290 Tumor-Associated Calcium Signal Transducer 2 Tunisia
– 61. 137800 Glioma of Brain, Familial Glioblastoma Multiforme ?
– 62. 138350 Glutathione S-Transferase, MU-1 KSA
– 63. 139090 Gray Platelet Syndrome Palestine
– 64. 139191 Growth Hormone-Releasing Hormone Receptor Morocco
– 65. 139250 Growth Hormone 1 KSA
– 66. 140300 Hashimoto Thyroiditis Tunisia
– 67. 141800 Hemoglobin-Alpha Locus 1 Mauritania, Morocco, Algeria, Tunisia, KSA, Qatar, UAE
– 68. 141850 Hemoglobin–Alpha Locus 2 Algeria, Tunisia, Iraq, KSA, Yemen
– 69. 141900 Hemoglobin–Beta Locus Morocco, Algeria, Tunisia, Egypt, Lebanon, Syria, Iraq, Kuwait, KSA, Qatar, Oman, Sudan
– 70. 142200 Hemoglobin, Gamma A Tunisia
– 71. 142250 Hemoglobin, Gamma G Algeria, KSA, UAE
– 72. 142309 Hemoglobin–Variants for which the Chain Carrying the Mutation is Unknown or Uncertain KSA
– 73. 142461 Heparan Sulfate Proteoglycan of Basement Membrane Tunisia
– 74. 142470 Heterocellula
– 75. 142800 Major Histocompatibility Complex, Class I, A Egypt
– 76. 142900 Holt-Oram Syndrome Jordan
– 77. 143100 Huntington Disease Morocco, Sudan
– 78. 143890 Hypercholesterolemia, Autosomal Dominant Lebanon, Syria
– 79. 144200 Palmoplantar Keratoderma, Epidermolytic Kuwait
– 80. 145420 Hypertelorism, Teebi Type ?
– 81. 145900 Hypertrophic Neuropathy of Dejerine-Sottas Lebanon
– 82. 147000 IgA Constant Heavy Chain 2 Tunisia
– 83. 147100 IgG Heavy Chain Locus Tunisia
– 84. 147120 Immunoglobulin Gm3 Tunisia
– 85. 147920 Kabuki Syndrome ?
– 86. 148820 Waardenburg Syndrome, Type III Egypt, Yemen
– 87. 150330 Lamin A/C Morocco, Algeria
– 88. 150590 Leg Ulcers, Familial, of Juvenile Onset Iraq
– 89. 150900 Lentigines Lebanon
– 90. 151443 Leukemia Inhibitory Factor Receptor UAE, Oman
– 91. 151600 Leukonychia Totalis ?
– 92. 152200 Apolipoprotein(a) Sudan
– 93. 153454 Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase Qatar
– 94. 153670 Bernard-Soulier Syndrome, Benign Autosomal Dominant Algeria – 95. 154045 Lens Intrinsic Membrane Protein 2, 19-kD Iraq
– 96. 154550 Mannosephosphate Isomerase Lebanon
– 97. 154570 Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type Lebanon
– 98. 155255 Medulloblastoma Morocco
– 99. 156225 Laminin, Alpha-2 KSA
– 100. 157660 Mitochondrial RNA-Processing Endoribonuclease, RNA Component of KSA
– 101. 158000 Monilethrix ?
– 102. 159980 Myogenic Factor 4 Oman
– 103. 160900 Dystrophia Myotonica 1 Morocco, Egypt, Yemen
– 104. 161200 Nail-Patella Syndrome Palestine
– 105. 161561 Interleukin 12B KSA
– 106. 161900 Renal Failure, Progressive, with Hypertension Iraq
– 107. 162700 Neutropenia, Chronic Familial Yemen
– 108. 164500 Spinocerebellar Ataxia 7 Morocco
– 109. 164831 Leukemia Viral BMI-1 Oncogene, Mouse, Homolog of Morocco
– 110. 166210 Osteogenesis Imperfecta Congenita Algeria
– 111. 166800 Otosclerosis Tunisia
– 112. 169500 Leukodystrophy, Adult-Onset, Autosomal Dominant Sudan
– 113. 170200 Peptidase E Syria
– 114. 170261 Transporter, ATP-Binding Cassette, Major Histocompatibility Complex, 2 Morocco
– 115. 173470 Integrin, Beta-3 Iraq
– 116. 175100 Adenomatous Polyposis of the Colon ?
– 117. 175200 Peutz-Jeghers Syndrome Iraq –
118. 176100 Porphyria Cutanea Tarda Tunisia
– 119. 176261 Potassium Channel, Voltage-Gated, ISK-Related Subfamily, Member 1 Lebanon
– 120. 176640 Prion Protein Morocco, Tunisia, Libya
– 121. 176670 Hutchinson-Gilford Progeria Syndrome Libya, Egypt
– 122. 176860 Protein C Deficiency, Congenital Thrombotic Disease due to Protein C ?
– 123. 177070 Protein 4.2, Erythrocytic Tunisia
– 124. 177850 Pseudoxanthoma Elasticum, Autosomal Dominant Morocco
– 125. 179280 Radial-Renal Syndrome Morocco
– 126. 180090 Retinaldehyde-Binding Protein KSA
– 127. 180700 Robinow Syndrome Algeria, Kuwait, KSA
– 128. 180860 Silver-Russell Syndrome Lebanon
– 129. 180901 Ryanodine Receptor 1 Algeria
– 130. 180960 S-Adenosylhomocysteine Hydrolase Tunisia
– 131. 181450 Ulnar-Mammary Syndrome Yemen
– 132. 182380 Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 1 Lebanon, Syria
– 133. 182601 Spastic Paraplegia 4, Autosomal Dominant Tunisia
– 134. 182860 Spectrin, Alpha, Erythrocytic 1 Morocco, Algeria, Tunisia
– 135. 182870 Spectrin, Beta, Erythrocytic Algeria
– 136. 183090 Spinocerebellar Ataxia 2 Tunisia
– 137. 184253 Spondylometaphyseal Dysplasia, Algerian Type Algeria
– 138. 186970 T-Cell Antigen Receptor, Gamma Subunit Tunisia, Lebanon
– 139. 187300 Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber ?
– 140. 187500 Tetralogy of Fallot Lebanon
– 141. 187600 Thanatophoric Dysplasia Morocco
– 142. 188250 Thymidine Kinase, Mitochondrial ?
– 143. 188455 Thyroglossal Duct Cyst, Familial ?
– 144. 188540 Thyroid-Stimulating Hormone, Beta Chain Egypt
– 145. 188570 Thyroid Hormone Resistance Algeria
– 146. 190160 Thyroid Hormone Receptor, Beta Algeria
– 147. 191315 Neurotrophic Tyrosine Kinase, Receptor, Type 1 UAE
– 148. 191720 5-Prime,3-Prime-@Nucleotidase, Cytosolic Syria
– 149. 191740 Udp-Glycosyltransferase 1 Family, Polypeptide A1 Tunisia
– 150. 192340 Arginine Vasopressin Palestine
– 151. 192500 Long QT Syndrome 1 Tunisia
– 152. 192600 Cardiomyopathy, Familial Hypertrophic Lebanon
– 153. 193230 Vitreoretinal Degeneration, Snowflake Type Algeria
– 154. 193700 Whistling Face-Windmill Vane Hand Syndrome Morocco
– 155. 201100 Acrodermatitis Enteropathica, Zinc-Deficiency Type Egypt, Jordan
– 156. 201300 Neuropathy, Hereditary Sensory and Autonomic, Type II ?
– 157. 201710 Lipoid Congenital Adrenal Hyperplasia Palestine
– 158. 201910 Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency Kuwait
– 159. 202010 Adrenal Hyperplasia, Congenital, due to 11-Beta-Hydroxylase Deficiency Morocco, Tunisia, KSA
– 160. 202370 Adrenoleukodystrophy, Autosomal Neonatal Form Egypt
– 161. 202400 Afibrinogenemia, Congenital Morocco, Iraq
– 162. 203500 Alkaptonuria Egypt
– 163. 203700 Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis ?
– 164. 203740 Alpha-Ketoglutarate Dehydrogenase Deficiency Algeria, Tunisia
– 165. 203750 Alpha-Methylacetoaceticaciduria Tunisia
– 166. 203800 Alstrom Syndrome Algeria
– 167. 204200 Ceroid Lipofuscinosis, Neuronal 3, Juvenile Morocco
– 168. 204500 Ceroid Lipofuscinosis, Neuronal 2, Late Infantile Lebanon
– 169. 204870 Corneal Dystrophy, Gelatinous Drop-Like Tunisia
– 170. 205100 Amyotrophic Lateral Sclerosis 2, Juvenile Tunisia, Kuwait, KSA
– 171. 206500 Anencephaly Iraq
– 172. 208050 Arterial Tortuosity Morocco
– 173. 208100 Arthrogryposis Multiplex Congenita, Neurogenic Type ?
– 174. 208230 Arthropathy, Progressive Pseudorheumatoid, of Childhood Jordan
– 175. 208250 Arthropathy-Camptodactyly Syndrome KSA
– 176. 208400 Aspartylglucosaminuria Aspartylglucosaminidase Tunisia, Palestine
– 177. 208850 Ataxia-Deafness-Retardation Syndrome Kuwait
– 178. 208870 Ataxia-Microcephaly-Cataract Syndrome ?
– 179. 208900 Ataxia-Telangiectasia Morocco
– 180. 209500 Atrichia with Papular Lesions ?
– 181. 209900 Bardet-Biedl Syndrome Kuwait
– 182. 209920 Bare Lymphocyte Syndrome, Type II Morocco, Algeria, Tunisia
– 183. 210000 Behr Syndrome Iraq
– 184. 210200 3-@Methylcrotonyl-CoA Carboxylase 1 Deficiency Tunisia
– 185. 210600 Seckel Syndrome Iraq, Yemen
– 186. 210745 Blepharophimosis with Ptosis, Syndactyly, and Short Stature Yemen
– 187. 211530 Bulbar Palsy, Progressive, with Sensorineural Deafness Lebanon
– 188. 211770 Cahmr Syndrome Egypt
– 189. 211890 Campomelia, Cumming Type Egypt
– 190. 211900 Calcinosis, Tumoral, with Hyperphosphatemia Lebanon
– 191. 211960 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Morocco, Libya Abnormal Palmar Creases
– 192. 212110 Cardiomyopathy, Dilated, Autosomal Recessive KSA
– 193. 212112 Cardiomyopathy, Congestive, with Hypergonadotropic Hypogonadism Lebanon
– 194. 212135 Cardioskeletal Syndrome, Kuwaiti Type Kuwait
– 195. 212138 Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 KSA
– 196. 213200 Cerebellar Ataxia 1 Lebanon
– 197. 213700 Cerebrotendinous Xanthomatosis Morocco
– 198. 213980 Cerebrofaciothoracic Dysplasia Morocco
– 199. 214100 Zellweger Syndrome Algeria
– 200. 214150 Cerebrooculofacioskeletal Syndrome Egypt
– 201. 214300 Cervical Vertebral Fusion, Autosomal Recessive Iraq
– 202. 214400 Charcot-Marie-Tooth Disease, Type 4A Tunisia
– 203. 214700 Chloride Diarrhea, Familial Kuwait
– 204. 215518 Ciliary Discoordination due to Random Ciliary Orientation Lebanon
– 205. 216550 Cohen Syndrome Lebanon
– 206. 216900 Achromatopsia 2 Morocco, Iraq
– 207. 217070 Complement Component 7 Deficiency Morocco, Tunisia, Yemen
– 208. 217080 Cone-Rod Dystrophy and Amelogenesis Imperfecta ?
– 209. 217400 Corneal Dystrophy and Perceptive Deafness Morocco
– 210. 218350 Craniofacial Dyssynostosis with Short Stature ?
– 211. 219200 Cutis Laxa with Growth and Developmental Delay KSA
– 212. 219550 Cysteine Peptiduria Iraq
– 213. 219600 Cystic Disease of Lung Yemen
– 214. 219700 Cystic Fibrosis Morocco, Libya, Iraq, KSA, Yemen
– 215. 219721 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, ? and Subnormal Mentality
– 216. 220100 Cystinuria Libya
– 217. 220150 Hypouricemia, Renal Iraq
– 218. 220290 Deafness, Neurosensory, Autosomal Recessive 1 Tunisia, Egypt, Palestine
– 219. 220500 Deafness, Congenital, and Onychodystrophy, Recessive Form Oman
– 220. 220900 Deafness, Congenital, with Total Albinism Morocco
– 221. 221745 Mitochondrial Deafness Modifier Gene 1 ?
– 222. 221950 Dextrocardia with Unusual Facies and Microphthalmia ?
– 223. 222300 Wolfram Syndrome Sudan
– 224. 222400 Diaphragm, Unilateral Agenesis of Diaphragmatic Defects, Familial Congenital Egypt, Kuwait
– 225. 222448 Donnai-Barrow Syndrome KSA
– 226. 222700 Lysinuric Protein Intolerance Morocco, KSA
– 227. 222748 Dihydropyrimidinase Lebanon
– 228. 223800 Dyggve-Melchior-Clausen Disease Morocco, Lebanon
– 229. 223900 Dysautonomia, Familial Algeria
– 230. 224120 Anemia, Dyserythropoietic Congenital, Type I Kuwait, KSA
– 231. 224230 Dyskeratosis Congenita, Autosomal Recessive Syria
– 232. 224400 Dyssegmental Dwarfism Palestine, Lebanon, Jordan
– 233. 224500 Dystonia Musculorum Deformans 2 ?
– 234. 224900 Ectodermal Dysplasia, Anhidrotic Morocco
– 235. 225280 Eem Syndrome Yemen
– 236. 225400 Ehlers-Danlos Syndrome, Type VI ?
– 237. 225750 Aicardi-Goutieres Syndrome 1 Algeria –
238. 226300 Enteropathy, Protein-Losing ?
– 239. 226400 Epidermodysplasia Verruciformis Algeria
– 240. 226980 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus Oman
– 241. 227090 Erythroderma, Lethal Congenital Oman
– 242. 227260 Facial Ectodermal Dysplasia Oman
– 243. 227300 Factor V and Factor VIII, Combined Deficiency of Algeria, Tunisia
– 244. 227310 Factor V and Factor VIII, Combined Deficiency of, with Syria Normal Protein C and Protein C Inhibitor
– 245. 227320 Faciothoracogenital Syndrome ?
– 246. 227330 Faciodigitogenital Syndrome, Recessive Kuwait
– 247. 227400 Factor V Deficiency Morocco
– 248. 227500 Factor VII Deficiency Morocco
– 249. 227645 Fanconi Anemia, Complementation Group C Iraq
– 250. 228000 Farber Lipogranulomatosis Tunisia
= 251. 228250 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly ?
– 252. 228400 Fever, Familial Lifelong Persistent Lebanon
– 253. 228550 Fibromatosis, Congenital Generalized Morocco
– 254. 228980 Fleck Retina, Familial Benign Palestine
– 255. 229200 Fragilitas Oculi with Joint Hyperextensibility Tunisia, Syria
– 256. 229300 Friedreich Ataxia 1 Tunisia
– 257. 229800 Fructosuria Ketohexokinase ?
– 258. 229850 Fryns Syndrome Sudan
– 259. 230740 Gapo Syndrome Algeria, Egypt
– 260. 230800 Gaucher Disease, Type I Palestine
– 261. 231005 Gaucher-Like Disease ?
– 262. 231070 Geroderma Osteodysplastica Morocco
– 263. 231090 Hydatidiform Mole Lebanon
– 264. 231550 Achalasia-Addisonianism-Alacrima Syndrome KSA
– 265. 231670 Glutaricacidemia I Glutaryl-CoA Dehydrogenase ?
– 266. 232200 Glycogen Storage Disease I Glucose-6-Phosphatase, Catalytic ?
– 267. 232300 Glycogen Storage Disease II Palestine
– 268. 232700 Glycogen Storage Disease VI Glycogen Phosphorylase, Liver ?
– 269. 233710 Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form II Palestine, Jordan
– 270. 234050 Hair-Brain Syndrome Morocco
– 271. 235200 Hemochromatosis Algeria, Egypt
– 272. 235510 Hennekam Lymphangiectasia-Lymphedema Syndrome ?
– 273. 236200 Homocystinuria KSA
– 274. 236450 Hutterite Cerebroosteonephrodysplasia Syndrome Yemen
– 275. 236600 Hydrocephalus Palestine, Kuwait
– 276. 236700 McKusick-Kaufman Syndrome Lebanon
– 277. 236730 Urofacial Syndrome ?
– 278. 236792 L-2-@Hydroxyglutaricacidemia Morocco, Tunisia 279. 236800 Hydroxykynureninuria Algeria
– 280. 237300 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due to ?
– 281. 237500 Dubin-Johnson Syndrome Morocco, Iraq
– 282. 237900 Hyperbilirubinemia, Transient Familial Neonatal Breastfeeding Jaundice Yemen
– 283. 238310 Aminomethyltransferase ?
– 284. 239000 Paget Disease, Juvenile Iraq
– 285. 239500 Hyperprolinemia, Type I Algeria
– 286. 239710 Acrofrontofacionasal Dysostosis, Severe Kuwait
– 287. 239840 Hypertrichosis, Congenital Anterior Cervical, with Peripheral ? Sensory and Motor Neuropathy
– 288. 241080 Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, KSA and Electrocardiographic Abnormalities
– 289. 241410 Hypoparathyroidism-Retardation-Dysmorphism Syndrome KSA, Qatar
– 290. 242300 Ichthyosis, Lamellar, 1 Egypt
– 291. 242870 Immunodeficiency, Partial Combined, with Absence of HLA Algeria Determinants and Beta-2-Microglobulin from Lymphocytes
– 292. 243060 Infertility Associated with Multi-Tailed Spermatozoa and Excessive DNA Libya
– 293. 243110 Interleukin 1, Defective T-Cell Response to Lebanon
– 294. 243320 Intrinsic Factor and R Binder, Combined Congenital Deficiency of Algeria
– 295. 243600 Jejunal Atresia ?
– 296. 243800 Johanson-Blizzard Syndrome KSA
– 297. 244400 Kartagener Syndrome ?
– 298. 244460 Kenny-Caffey Syndrome, Type 1 Kuwait, KSA
– 299. 245000 Papillon-Lefevre Syndrome Jordan
– 300. 245200 Krabbe Disease Egypt, Lebanon, Syria
– 301. 245552 Lambotte Syndrome Morocco
– 302. 245590 Laron Syndrome, Type II Growth Hormone Insensitivity with Immunodeficiency Palestine
– 303. 245600 Larsen Syndrome, Recessive UAE
– 304. 245800 Laurence-Moon Syndrome Kuwait
– 305. 246200 Leprechaunism Yemen
– 306. 246450 3-@Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Morocco, KSA
– 307. 247100 Lipoid Proteinosis of Urbach and Wiethe Lebanon
– 308. 248110 Macrosomia with Microphthalmia, Lethal Kuwait
– 309. 248250 Hypomagnesemia, Primary ?
– 310. 248300 Mal de Meleda Algeria
– 311. 248500 Mannosidosis, Alpha B, Lysosomal Palestine
– 312. 248600 Maple Syrup Urine Disease Tunisia, Egypt
– 313. 248800 Marinesco-Sjogren Syndrome Kuwait
– 314. 249100 Familial Mediterranean Fever Morocco, Libya, Palestine, Lebanon, Syria, Jordan, Iraq, Kuwait, KSA Country
– 315. 249240 Megalencephaly with Dysmyelination Iraq
– 316. 249270 Thiamine-Responsive Megaloblastic Anemia Syndrome ?
– 317. 249420 Ter Haar Syndrome Syria
– 318. 249500 Mental Retardation, Autosomal Recessive Algeria
– 319. 250100 Metachromatic Leukodystrophy Pseudoarylsulfatase A Deficiency ?
– 320. 250220 Metaphyseal Chondrodysplasia, Congenital Lethal Yemen
– 321. 250450 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy Egypt
– 322. 250790 Methemoglobinemia due to Deficiency of Cytochrome B5 Yemen
– 323. 250800 Methemoglobinemia due to Deficiency of Methemoglobin Reductase Algeria
– 324. 250951 3-@Methylglutaconicaciduria, Type IV Iraq
– 325. 251260 Nijmegen Breakage Syndrome Berlin Breakage Syndrome ?
– 326. 251270 Microcephaly with Chorioretinopathy Kuwait
– 327. 251280 Microcephaly with Spastic Quadriplegia Palestine
– 328. 251450 Desbuquois Syndrome Morocco, UAE
– 329. 251600 Microphthalmos, Autosomal Recessive ?
– 330. 251850 Microvillus Inclusion Disease Iraq
– 331. 252010 Complex I, Mitochondrial Respiratory Chain, Deficiency of Myopathy, Morocco Mitochondrial, with Deficiency of Respiratory Chain NADH-CoQ Reductase Activity
– 332. 252350 Moyamoya Disease ?
– 333. 252650 Mucolipidosis IV Sudan
– 334. 252800 Alpha-L-Iduronidase Morocco, Libya, Egypt, Lebanon, Syria
– 335. 252920 Mucopolysaccharidosis Type IIIb N-Acetylglucosaminidase, Alpha- ?
– 336. 253220 Mucopolysaccharidosis Type VII Algeria
– 337. 253250 Mulibrey Nanism Egypt
– 338. 253270 Multiple Carboxylase Deficiency Jordan
– 339. 253290 Multiple Pterygium Syndrome, Lethal Type Morocco
– 340. 253300 Spinal Muscular Atrophy, Type I Kuwait
– 341. 253550 Spinal Muscular Atrophy, Type II Kuwait
– 342. 253600 Muscular Dystrophy, Limb-Girdle, Type 2A ?
– 343. 253601 Muscular Dystrophy, Limb-Girdle, Type 2B Yemen
– 344. 253700 Muscular Dystrophy, Limb-Girdle, Type 2C Morocco, Algeria, Tunisia, Libya, Egypt
– 345. 254130 Miyoshi Myopathy Tunisia
– 346. 254210 Myasthenia Gravis, Familial Infantile Iraq
– 347. 254780 Myoclonic Epilepsy of Lafora Epilepsy Palestine
– 348. 254800 Myoclonic Epilepsy of Unverricht and Lundborg ?
– 349. 255800 Schwartz-Jampel Syndrome, Type 1 Algeria, Tunisia, UAE
– 350. 256000 Leigh Syndrome Mauritania
– 351. 256020 Nail-Patella-Like Renal Disease Palestine
– 352. 256370 Nephrotic Syndrome, Early-Onset, with Diffuse Mesangial Sclerosis ? – 353. 256450 Nesidioblastosis of Pancreas Persistent Hyperinsulinemic KSA Hypoglycemia of Infancy due to Focal Adenomatous Hyperplasia
– 354. 256520 Neu-Laxova Syndrome Egypt
– 355. 256800 Insensitivity to Pain, Congenital, with Anhidrosis Kuwait
– 356. 256850 Giant Axonal Neuropathy 1 Tunisia
– 357. 256851 Neuropathy, Giant Axonal, Tunisian Form Tunisia
– 358. 257300 Nondisjunction Kuwait
– 359. 257320 Lissencephaly Syndrome, Norman-Roberts Type KSA
– 360. 257980 Odontoonychodermal Dysplasia Lebanon
– 361. 258501 3-@Methylglutaconicaciduria, Type III Iraq
– 362. 258860 Oral-Facial-Digital Syndrome, Type IV Lebanon
– 363. 258870 Ornithine Aminotransferase Deficiency Algeria, Lebanon, Iraq
– 364. 259700 Osteopetrosis, Autosomal Recessive Palestine
– 365. 259730 Osteopetrosis with Renal Tubular Acidosis Tunisia, Kuwait, KSA
– 366. 259775 Osteoclerotic Bone Dysplasia, Lethal ?
– 367. 260600 Pelizaeus-Merzbacher Disease, Acute Infantile Type Yemen
– 368. 260650 Pellagra-Like Syndrome Sudan
– 369. 260800 Pentosuria Lebanon
– 370. 260920 Hyper-IgD Syndrome ?
– 371. 261100 Megaloblastic Anemia 1 KSA
– 372. 261500 Peroxidase and Phospholipid Deficiency in Eosinophils Yemen, Sudan
– 373. 261550 Persistent Mullerian Duct Syndrome, Types I and II ?
– 374. 261600 Phenylketonuria Kuwait, Yemen
– 375. 261630 Phenylketonuria II Tunisia
– 376. 261750 Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive ?
– 377. 262400 Pituitary Dwarfism I Iraq, Yemen
– 378. 262500 Pituitary Dwarfism II ?
– 379. 263630 Polysyndactyly with Cardiac Malformation Oman
– 380. 263650 Popliteal Pterygium Syndrome, Lethal Type Qatar, UAE
– 381. 263700 Porphyria, Congenital Erythropoietic Algeria
– 382. 264300 17-@Beta Hydroxysteroid Dehydrogenase III Deficiency Polycystic ? Ovarian Disease due to 17-Ketosteroid Reductase Deficiency
– 383. 264600 Pseudovaginal Perineoscrotal Hypospadias Jordan
– 384. 264900 Pta Deficiency Coagulation Factor XI Iraq
– 385. 265000 Pterygium Syndrome Kuwait
– 386. 265100 Pulmonary Alveolar Microlithiasis Lebanon
– 387. 265380 Pulmonary Hypertension, Familial Persistent, of the Newborn Tunisia
– 388. 265800 Pycnodysostosis ?
– 389. 265950 Pyloric Atresia Iraq
– 390. 266140 Pyropoikilocytosis, Hereditary KSA
– 391. 266150 Pyruvate Carboxylase Deficiency Egypt –
392. 266200 Pyruvate Kinase Deficiency of Erythrocyte Lebanon
– 393. 266265 Congenital Disorder of Glycosylation, Type IIc ?
– 394. 267000 Renal Hamartomas, Nephroblastomatosis, and Fetal Gigantism Yemen
– 395. 267430 Renal Tubular Dysgenesis Palestine
– 396. 267700 Reticulosis, Familial Histiocytic Iraq
– 397. 268020 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Morocco
– 398. 268050 Retinopathy, Pigmentary, and Mental Retardation Lebanon
– 399. 268130 Revesz Syndrome Sudan
– 400. 268200 Rhabdomyolysis, Acute Recurrent Kuwait
– 401. 268250 Rhizomelic Syndrome ?
– 402. 268310 Robinow Syndrome, Autosomal Recessive Kuwait, Oman
– 403. 268800 Sandhoff Disease Lebanon
– 404. 269000 SC Phocomelia Syndrome Lebanon
– 405. 269150 Schinzel-Giedion Midface-Retraction Syndrome Egypt
– 406. 269700 Lipodystrophy, Congenital Generalized, Type 2 Lebanon, Oman
– 407. 269950 Sideroblastic Anemia, Autosomal Libya
– 408. 270200 Sjogren-Larsson Syndrome Egypt
– 409. 270300 Skin Peeling, Familial Continuous Kuwait
– 410. 270550 Spastic Ataxia, Charlevoix-Saguenay Type Tunisia
– 411. 270750 Spastic Paraplegia 23 Jordan
– 412. 270800 Spastic Paraplegia 5A, Autosomal Recessive Tunisia
– 413. 271322 Spinocerebellar Degeneration with Slow Eye Movements Palestine, Kuwait
– 414. 271550 Spondyloenchondrodysplasia Iraq
– 415. 271640 Spondyloepimetaphyseal Dysplasia with Joint Laxity ?
– 416. 271665 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Egypt
– 417. 271900 Canavan Disease KSA
– 418. 272300 Sulfocysteinuria Algeria
– 419. 272440 Syndactyly, Type I, with Microcephaly and Mental Retardation Tunisia
– 420. 272450 Syndesmodysplasic Dwarfism Algeria
– 421. 272460 Spondylocarpotarsal Synostosis Syndrome Lebanon
– 422. 272750 Tay-Sachs Disease, AB Variant KSA
– 423. 272800 Tay-Sachs Disease Morocco, Lebanon, Syria
– 424. 272950 Teebi-Shaltout Syndrome Tunisia
– 425. 273150 Testes, Rudimentary Lebanon
– 426. 273250 Testicular Regression Syndrome Tunisia
– 427. 273395 Tetra-Amelia with Pulmonary Hypoplasia Palestine
– 428. 273800 Thrombasthenia of Glanzmann and Naegeli Jordan, Iraq
– 429. 275000 Graves Disease Tunisia
– 430. 275200 Thyrotropin, Unresponsiveness to Egypt, Syria
– 431. 275210 Tight Skin Contracture Syndrome, Lethal Algeria
– 432. 275350 Transcobalamin II Deficiency Morocco – 433. 275595 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, Palestine and Abnormalities of the Hands and Feet
– 434. 275630 Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation Egypt
– 435. 275900 Spastic Paraplegia 20, Autosomal Recessive Kuwait
– 436. 276600 Tyrosine Transaminase Deficiency KSA
– 437. 276820 Ulna And Fibula, Absence of, with Severe Limb Deficiency Jordan
– 438. 276821 Ulnar Hypoplasia with Mental Retardation ?
– 439. 276901 Usher Syndrome, Type IIA Tunisia
– 440. 276902 Usher Syndrome, Type III Yemen
– 441. 276903 Myosin VIIA Tunisia, Yemen
– 442. 276905 Usher Syndrome, Type IIB Tunisia
– 443. 277300 Spondylocostal Dysostosis, Autosomal Recessive, 1 ?
– 444. 277320 Visceral Myopathy, Familial, with External Ophthalmoplegia Iraq
– 445. 277350 Vitamin A Metabolic Defect Lebanon
– 446. 277440 Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to ? 1,25-Dihydroxycholecalciferol
– 447. 277450 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, ? 1 Chondrodysplasia Punctata with Coagulation Factor Deficiency
– 448. 277460 Vitamin E, Familial Isolated Deficiency of Tunisia
– 449. 277465 Vitiligo, Progressive, with Mental Retardation and Urethral Duplication Algeria
– 450. 277580 Waardenburg-Shah Syndrome Yemen
– 451. 277600 Weill-Marchesani Syndrome, Autosomal Recessive Lebanon
– 452. 277900 Wilson Disease ?
– 453. 278250 Wrinkly Skin Syndrome Iraq, KSA
– 454. 278300 Xanthinuria, Type I Lebanon, Kuwait
– 455. 278700 Xeroderma Pigmentosum, Complementation Group A Tunisia, Egypt, Palestine
– 456. 279000 Young Syndrome Yemen
– 457. 300265 Zinc Finger Protein of Cerebellum, 3 Lebanon
– 458. 300331 Thrombocytosis, Familial X-Linked ?
– 459. 300383 Properdin P Factor, Complement Tunisia
– 460. 300392 WAS Gene Lebanon, Syria
– 461. 300419 Mental Retardation, X-Linked 54 Tunisia
– 462. 300463 Polyglutamine-Binding Protein 1 Morocco
– 463. 301090 Amelia, X-Linked ?
– 464. 301900 Borjeson-Forssman-Lehmann Syndrome KSA
– 465. 304790 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Morocco
– 466. 305900 Glucose-6-Phosphate Dehydrogenase Algeria, Egypt, Lebanon, Syria, Jordan, Iraq, KSA, Sudan
– 467. 308050 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Egypt
– 468. 309200 Major Affective Disorder 2 Iraq, Yemen –
469. 309550 Fragile Site Mental Retardation 1 Gene Tunisia
– 470. 309900 Mucopolysaccharidosis Type II Morocco
– 471. 310400 Myotubular Myopathy 1 Yemen
– 472. 312060 Properdin Deficiency, X-Linked Tunisia
– 473. 312550 Retinal Dysplasia, Primary Iraq
– 474. 313700 Androgen Receptor Kuwait
– 475. 313900 Thrombocytopenia 1 KSA
– 476. 561000 Ribosomal RNA, Mitochondrial, 12S ?
– 477. 580000 Streptomycin Ototoxicity ?
– 478. 600060 Deafness, Neurosensory, Autosomal Recessive 2 Tunisia
– 479. 600116 Parkinson Disease, Juvenile, Autosomal Recessive Algeria
– 480. 600118 Warburg Micro Syndrome 1 Lebanon
– 481. 600146 Spastic Paraplegia 5B, Autosomal Recessive Tunisia
– 482. 600160 Cyclin-Dependent Kinase Inhibitor 2A Tunisia
– 483. 600179 Guanylate Cyclase 2D, Membrane Algeria, Tunisia 484. 600185 Breast Cancer 2 Gene Yemen
– 485. 600252 Lowry-Maclean Syndrome Kuwait
– 486. 600262 Prostaglandin-Endoperoxide Synthase 2 Algeria
– 487. 600266 Solute Carrier Family 11 (Proton-Coupled Divalent Metal Ion Transporter), Sudan Member 1
– 488. 600301 Acyl-CoA Dehydrogenase, Short/Branched Chain Eritrea
– 489. 600360 Aplasia Cutis Congenita of Limbs, Recessive Yemen
– 490. 600374 BBS4 Gene KSA
– 491. 600502 Immunoglobulin MU Binding Protein 2 Lebanon
– 492. 600509 ATP-Binding Cassette, Subfamily C, Member 8 KSA
– 493. 600514 Reelin KSA
– 494. 600529 AU-Specific RNA-Binding Protein Morocco, Lebanon
– 495. 600617 Steroidogenic Acute Regulatory Protein Palestine, Jordan, Kuwait
– 496. 600650 Carnitine Palmitoyltransferase II Morocco
– 497. 600662 Mads Box Transcription Enhancer Factor 2, Polypeptide C Oman
– 498. 600737 Inclusion Body Myopathy 2, Autosomal Recessive Palestine
– 499. 600760 Sodium Channel, Nonvoltage-Gated 1, Beta Subunit ?
– 500. 600794 Spinal Muscular Atrophy, Distal, Type V Algeria
– 501. 600805 Laminin, Alpha-3 KSA
– 502. 600818 Transgelin Algeria
– 503. 600850 Schizophrenia 4 Algeria
– 504. 600863 Casein Kinase I, Epsilon Syria
– 505. 600900 Sarcoglycan, Beta Tunisia
– 506. 600918 Cystinuria, Type III Libya
– 507. 600923 Protoporphyrinogen Oxidase Lebanon
– 508. 600957 Anti-Mullerian Hormone Morocco –
509. 601007 Leptin Receptor Algeria
– 510. 601015 NPC2 Gene Algeria
– 511. 601067 Usher Syndrome, Type ID Morocco
– 512. 601071 Deafness, Autosomal Recessive 9 Lebanon
– 513. 601105 Cathepsin K Morocco
– 514. 601107 ATP-Binding Cassette, Subfamily C, Member 2 Morocco
– 515. 601145 Cystatin B ?
– 516. 601146 Growth/Differentiation Factor 5 Oman
– 517. 601170 Muscular Dystrophy, Congenital, with Severe Central Nervous ? System Atrophy and Absence of Large Myelinated Fibers
– 518. 601214 Naxos Disease ?
– 519. 601277 Ichthyosis, Lamellar, 2 Morocco
– 520. 601386 Deafness, Autosomal Recessive 12 Syria
– 521. 601441 Diacylglycerol Kinase, Zeta, 104-kD Jordan
– 522. 601451 Nevo Syndrome ?
– 523. 601537 Microcephaly, Retinitis Pigmentosa, and Sutural Cataract Morocco
– 524. 601549 Alacrima Jordan
– 525. 601552 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism Lebanon
– 526. 601553 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy Egypt
– 527. 601559 Stuve-Wiedemann Syndrome/Schwartz-Jampel Syndrome, Type 2 UAE, Oman
– 528. 601596 Charcot-Marie-Tooth Disease, Type 4C Algeria
– 529. 601601 Transcription Factor AP2-Beta Palestine
– 530. 601604 Interleukin 12 Receptor, Beta-1 Morocco
– 531. 601618 SRY-Box 18 Oman
– 532. 601623 Ubiquitin-Protein Ligase E3A Iraq
– 533. 601691 ATP-Binding Cassette, Subfamily A, Member 4 KSA
– 534. 601706 Yemenite Deaf-Blind Hypopigmentation Syndrome Yemen
– 535. 601769 Vitamin D Receptor KSA
– 536. 601771 Cytochrome P450, Subfamily I, Polypeptide 1 Morocco, Algeria, KSA
– 537. 601843 Solute Carrier Family 5 (Sodium Iodide Symporter), Member 5 Algeria
– 538. 601993 Nuclear Receptor Coactivator 2 Oman
– 539. 602078 Fibrosis of Extraocular Muscles, Congenital, 2 KSA
– 540. 602097 Usher Syndrome, Type IE Morocco
– 541. 602099 Amyotrophic Lateral Sclerosis 5 Tunisia
– 542. 602109 Matrilin 3 ?
– 543. 602201 Extracellular Matrix Protein 1 Kuwait
– 544. 602229 SRY-Box 10 Yemen
– 545. 602247 Xanthomatosis, Susceptibility to Syria
– 546. 602302 Hairless, Mouse, Homolog of Palestine, Oman
– 547. 602337 Receptor Tyrosine Kinase-Like Orphan Receptor 2 Oman
– 548. 602400 Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis UAE –
549. 602401 Ectodermal Dysplasia, Hidrotic, Autosomal Recessive Lebanon
– 550. 602419 Early Growth Response 3 Syria
– 551. 602421 Cystic Fibrosis Transmembrane Conductance Regulator ?
– 552. 602459 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 15 Tunisia, Libya, Egypt
– 553. 602544 Parkin Algeria
– 554. 602557 Spondyloepimetaphyseal Dysplasia, Shohat Type Iraq
– 555. 602574 Tectorin, Alpha Lebanon
– 556. 602593 Corneodesmosin Yemen
– 557. 602643 Tumor Necrosis Factor Receptor Superfamily, Member 11B Iraq
– 558. 602753 Aristaless Homeo Box, Drosophila, Homolog of KSA
– 559. 602768 Delta-Like 3 ?
– 560. 602956 X-Ray Repair, Complementing Defective, in Chinese Hamster, 9 Lebanon
– 561. 602976 Max-Like Protein X Egypt
– 562. 603009 Dysferlin Libya, Palestine, Yemen
– 563. 603033 Collagenic Tail of Endplate Acetylcholinesterase Palestine, Iraq
– 564. 603034 Endplate Acetylcholinesterase Deficiency Palestine, Iraq
– 565. 603098 Deafness, Autosomal Recessive 13 Lebanon
– 566. 603133 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Lebanon Microcephaly, and Mental Retardation
– 567. 603194 Meckel Syndrome, Type 2 Tunisia
– 568. 603266 Diabetes Mellitus, Insulin-Dependent, 17 ?
– 569. 603335 Dynein, Axonemal, Heavy Chain 5 Lebanon
– 570. 603400 WNT1-Inducible Signaling Pathway Protein 3 Jordan, KSA
– 571. 603438 Radioulnar Synostosis with Short Stature, Microcephaly, Scoliosis, ? and Mental Retardation
– 572. 603552 Hemophagocytic Lymphohistiocytosis, Familial, 1 KSA
– 573. 603554 Omenn Syndrome Morocco
– 574. 603557 Myotubularin-Related Protein 2 KSA
– 575. 603593 Solute Carrier Family 7, Member 7 Tunisia
– 576. 603629 Deafness, Autosomal Recessive 21 Lebanon
– 577. 603642 Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects Lebanon
– 578. 603650 Bardet-Biedl Syndrome 5 Kuwait, KSA
– 579. 603678 Deafness, Autosomal Recessive 14 Lebanon
– 580. 603681 Otoferlin Lebanon
– 581. 603707 Molybdenum Cofactor Synthesis 1 ?
– 582. 603708 Molybdenum Cofactor Synthesis 2 Egypt
– 583. 603720 Deafness, Autosomal Recessive 16 Palestine, Syria
– 584. 603813 Hypercholesterolemia, Autosomal Recessive Syria
– 585. 603824 UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Palestine
– 586. 603868 Ras-Associated Protein RAB27A ?
– 587. 603896 Leukoencephalopathy with Vanishing White Matter Algeria –
588. 603903 Sickle Cell Anemia Oman
– 589. 603968 Polymerase, DNA, ETA Lebanon
– 590. 604032 Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 Tunisia
– 591. 604110 G Protein-Coupled Receptor 56 Palestine, Qatar
– 592. 604144 Solute Carrier Family 7, Member 9 Libya
– 593. 604161 G Protein-Coupled Receptor 54 KSA
– 594. 604201 Hepatic Fibrosis, Severe, Susceptibility to, due to Schistosoma Mansoni Infection Sudan
– 595. 604228 Partial Albinism and Immunodeficiency Syndrome KSA
– 596. 604232 Leber Congenital Amaurosis, Type III KSA
– 597. 604320 Spinal Muscular Atrophy with Respiratory Distress 1 Lebanon
– 598. 604321 Microcephaly, Primary Autosomal Recessive, 4 Morocco
– 599. 604327 Xylosylprotein 4-Beta-Galactosyltransferase, Polypeptide 7 ?
–
600. 604490 Sacsin Tunisia
– 601. 604559 Progressive Familial Heart Block, Type I, Locus 1 Lebanon
– 602. 604563 Charcot-Marie-Tooth Disease, Type 4B2 Tunisia
– 603. 604571 Bare Lymphocyte Syndrome, Type I Morocco
– 604. 604595 Cholesterol-Lowering Factor Syria
– 605. 604611 RECQ Protein-Like 2 Syria
– 606. 604780 Comparative Gene Identification 58 Morocco, Algeria, Tunisia
– 607. 604801 Muscular Dystrophy, Congenital, 1B UAE
– 608. 604934 Tubulin-Specific Chaperone E ?
– 609. 605156 Nodulosis-Arthropathy-Osteolysis Syndrome KSA
– 610. 605195 Mesoderm Posterior 2 Lebanon
– 611. 605203 Multiple Pterygium Syndrome, Aslan Type Qatar
– 612. 605225 Inflammatory Bowel Disease 7 Iraq
– 613. 605239 ATPase, H+ Transporting, Lysosomal, V0 Subunit A, Isoform 4 KSA
– 614. 605242 USH1C Gene Lebanon
– 615. 605248 Mucolipin 1 ?
– 616. 605316 Deafness, Congenital Neurosensory, Autosomal Recessive 10 Palestine
– 617. 605378 Aladin Algeria
– 618. 605379 Gigaxonin Tunisia
– 619. 605511 Transmembrane Protease, Serine 3 Tunisia, Palestine
– 620. 605573 17-@Beta Hydroxysteroid Dehydrogenase III Syria
– 621. 605588 Charcot-Marie-Tooth Disease, Axonal, Type 2B1 Morocco, Algeria
– 622. 605597 Forkhead Transcription Factor FOXL2 Algeria
– 623. 605646 Solute Carrier Family 26, Member 4 Tunisia
– 624. 605678 Williams-Beuren Syndrome Chromosome Region 14 Egypt
– 625. 605685 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness Lebanon
– 626. 605725 Periaxin Lebanon
– 627. 605726 Neuropathy, Distal Hereditary Motor, Jerash Type Jordan
– 628. 605747 Autosomal Recessive Hypercholesterolemia Gene Lebanon, Syria –
629. 605799 Amnionless, Mouse, Homolog of Tunisia
– 630. 605818 Deafness, Autosomal Recessive 27 UAE
– 631. 605822 Spondyloocular Syndrome, Autosomal Recessive Iraq
– 632. 605828 Epidermodysplasia Verruciformis Gene 1 Algeria
– 633. 605829 Epidermodysplasia Verruciformis Gene 2 Algeria
– 634. 605881 GDP-Fucose Transporter 1 ?
– 635. 605899 Glycine Encephalopathy ?
– 636. 605908 Megalencephalic Leukoencephalopathy with Subcortical Cysts Gene 1 Libya
– 637. 606054 Propionicacidemia KSA
– 638. 606119 Secreted Ly6/uPAR-Related Protein 1 Algeria, Tunisia, Palestine, UAE
– 639. 606125 Tripartite Motif-Containing Protein 8 Egypt
– 640. 606158 BerardinellI-Seip Congenital Lipodystrophy Gene 2 Lebanon
– 641. 606201 Wolfram Syndrome Gene 1 KSA
– 642. 606220 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Lebanon
– 643. 606324 Parkinson Disease, Type 7, Autosomal Recessive Early-Onset Lebanon
– 644. 606352 Alsin Tunisia, Kuwait 645. 606397 USH3A Gene Yemen
– 646. 606412 BSND Gene Lebanon
– 647. 606416 CIAS1 Gene Algeria
– 648. 606438 Huntington Disease-Like 2 Morocco, KSA
– 649. 606463 Glucosidase, Acid Beta Lebanon, KSA
– 650. 606527 Megarbane Syndrome Iraq
– 651. 606530 Cytochrome P450, Subfamily XXVIIa, Polypeptide 1 Morocco
– 652. 606545 Ichthyosis, Lamellar, 5 ?
– 653. 606555 Tripartite Motif-Containing Protein 9 Egypt
– 654. 606556 Tripartite Motif-Containing Protein 14 Egypt
– 655. 606559 Tripartite Motif-Containing Protein 22 Egypt
– 656. 606580 Optic Atrophy 3 Gene Iraq
– 657. 606596 Fukutin-Related Protein Algeria, Tunisia, Libya
– 658. 606597 Paired Box Gene 3 Yemen
– 659. 606598 Ganglioside-Induced Differentiation-Associated Protein 1 Morocco, Tunisia
– 660. 606612 Muscular Dystrophy, Congenital, 1C Algeria, Tunisia
– 661. 606693 Parkinson Disease 9 Jordan
– 662. 606709 Protease, Serine, 12 Algeria
– 663. 606744 Seckel Syndrome 2 Iraq
– 664. 606808 Myosin IIIA Iraq
– 665. 606810 Proline Dehydrogenase Algeria
– 666. 606824 Glucose/Galactose Malabsorption Iraq
– 667. 606844 Alstrom Syndrome Gene Algeria
– 668. 606854 Polymicrogyria, Bilateral Frontoparietal Palestine –
669. 606869 Hexosaminidase A Morocco, Algeria, Lebanon, Iraq
– 670. 606873 Hexosaminidase B ?
– 671. 606879 Phosphoglycerate Dehydrogenase Morocco
– 672. 606883 Interleukin 1 Receptor-Associated Kinase 4 KSA
– 673. 606897 Lysosomal Trafficking Regulator Kuwait
– 674. 606937 Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities Lebanon
– 675. 606943 Usher Syndrome, Type IG Tunisia, Palestine, Jordan
– 676. 606945 Low Density Lipoprotein Receptor Algeria, Lebanon, Syria, Kuwait, Bahrain
– 677. 607009 Transient Receptor Potential Cation Channel, Subfamily M, Member 6 ?
– 678. 607038 Otoancorin Palestine, Lebanon, Jordan, Yemen
– 679. 607039 Deafness, Autosomal Recessive 22 Palestine
– 680. 607042 CLN3 Gene Morocco
– 681. 607059 Solute Carrier Family 39 (Zinc Transporter), Member 4 Tunisia, Egypt
– 682. 607067 Saitohin Algeria
– 683. 607084 Deafness, Autosomal Recessive 31 Palestine, Jordan
– 684. 607088 Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive Lebanon
– 685. 607095 Anauxetic Dysplasia Jordan
– 686. 607101 Deafness, Autosomal Recessive 30 Iraq
– 687. 607131 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Oman
– 688. 607139 Fanconi Anemia Complementation Group A Gene Morocco, Tunisia
– 689. 607155 Muscular Dystrophy, Limb-Girdle, Type 2I Tunisia
– 690. 607198 Tyrosyl-DNA Phosphodiesterase 1 KSA
– 691. 607239 Deafness, Autosomal Recessive 33 Jordan
– 692. 607250 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy KSA
– 693. 607306 Steroid 5-Alpha-Reductase 2 Lebanon
– 694. 607358 Autoimmune Regulator Egypt
– 695. 607473 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 Lebanon
– 696. 607483 Basal Ganglia Disease, Biotin-Responsive Syria, Yemen
– 697. 607564 Tripartite Motif-Containing Protein 6 Egypt
– 698. 607574 Arylsulfatase A Lebanon, KSA
– 699. 607584 Spastic Paraplegia 24, Autosomal Recessive KSA
– 700. 607585 Ataxia-Telangiectasia Mutated Gene Morocco, Tunisia, Palestine
– 701. 607590 BBS7 Gene KSA
– 702. 607608 Sphingomyelin Phosphodiesterase 1, Acid Lysosomal Morocco, Algeria, Tunisia, KSA
– 703. 607624 Griscelli Syndrome, Type 2 ?
– 704. 607625 Niemann-Pick Disease, Type C2 Algeria –
705. 607626 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis Morocco
– 706. 607690 Sar1a, S. Cerevisiae, Homolog 2 Algeria
– 707. 607694 Leukodystrophy With Oligodontia Syria
– 708. 607696 USH1G Gene Tunisia, Jordan
– 709. 607697 Set-Binding Factor 2 Morocco, Tunisia
– 710. 607731 Charcot-Marie-Tooth Disease, Axonal, Type 2H Tunisia
– 711. 607739 Charcot-Marie-Tooth Disease, Type 4B2, With Early-Onset Glaucoma Morocco, Tunisia
– 712. 607759 Integrin, Alpha-2B Iraq
– 713. 607764 3-@Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase KSA
– 714. 607765 Cholestasis, Progressive Familial Intrahepatic 4 KSA
– 715. 607800 ATP-Binding Cassette, Subfamily A, Member 12 Morocco, Algeria
– 716. 607812 Craniolenticulosutural Dysplasia KSA
– 717. 607817 COH1 Gene Lebanon, Oman
– 718. 607831 Charcot-Marie-Tooth Disease, Axonal, Type 2K Morocco
– 719. 607868 Tripartite Motif-Containing Protein 11 Egypt
– 720. 607900 Kindlin 1 Oman
– 721. 607928 Whirlin Jordan
– 722. 608027 Cerebellar Atrophy with Progressive Microcephaly Oman
– 723. 608034 Aspartoacylase ?
– 724. 608041 Anthrax Toxin Receptor 2 Morocco
– 725. 608091 Cerebellooculorenal Syndrome 2 UAE
– 726. 608097 Heterotopia, Periventricular, Autosomal Recessive Yemen
– 727. 608107 Familial Mediterranean Fever Gene Morocco, Lebanon, Jordan, Iraq
– 728. 608115 Ovarian Hyperstimulation Syndrome Morocco
– 729. 608132 Tetratricopeptide Repeat Domain 8 KSA
– 730. 608154 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Oman Short Stature, and Slender Bones
– 731. 608156 Nablus Mask-Like Facial Syndrome Palestine
– 732. 608207 Kala-Azar, Susceptibility to Sudan
– 733. 608222 Adenylosuccinate Lyase Morocco
– 734. 608358 Myopathy, Myosin Storage KSA
– 735. 608367 Myopia 4 Algeria
– 736. 608395 Karak Syndrome Jordan
– 737. 608443 Mental Retardation, Nonsyndromic, Autosomal Recessive, 3 ?
– 738. 608465 Senataxin Algeria
– 739. 608487 Tripartite Motif-Containing Protein 5 Egypt
– 740. 608509 Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia Jordan
– 741. 608515 Neutrophil Cytosolic Factor 2 Palestine, Jordan
– 742. 608547 Vitamin K Epoxide Reductase Complex, Subunit 1 Lebanon
– 743. 608585 Brachial Palsy, Familial Congenital Egypt –
744. 608630 Roundabout, Drosophila, Homolog of, 3 ?
– 745. 608637 Spondyloepiphyseal Dysplasia, Omani Type Oman
– 746. 608653 Deafness, Autosomal Recessive 32 Tunisia
– 747. 608681 Spondylocostal Dysostosis, Autosomal Recessive 2 Lebanon
– 748. 608728 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related ?
– 749. 608801 Glutaryl-CoA Dehydrogenase ?
– 750. 608845 ADP-Ribosylation Factor-Like 6 ?
– 751. 608911 Choanal Atresia, Posterior Yemen
– 752. 608931 Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency Iraq
http://www.cags.org.ae/cbc02ga.pdf
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Medical genetics of Jews
https://en.wikipedia.org/wiki/Medical_genetics_of_Jews
The medical genetics of Jews is the study, screening, and treatment of genetic disorders more common in particular Jewish populations than in the population as a whole.[1] The genetics of Ashkenazi Jews have been particularly well-studied, resulting in the discovery of many genetic disorders associated with this ethnic group. In contrast, the medical genetics of Sephardic Jews and Mizrahi Jews are more complicated, since they are more genetically diverse and consequently no genetic disorders are more common in these groups as a whole; instead, they tend to have the genetic diseases common in their various countries of origin.[1][2] Several organizations, such as Dor Yeshorim,[3] offer screening for Ashkenazi genetic diseases, and these screening programs have had a significant impact, in particular by reducing the number of cases of Tay–Sachs disease.
Ashkenazi diseases
The most detailed genetic analysis study of Ashkenazi was published in September 2014 by Shai Carmi and his team at Columbia University.[14] The results of the detailed study show that today’s 10 million Ashkenazi Jews descend from a population of only 350 individuals who lived about 600–800 years ago. That population derived from both Europe and the Middle East.[15] There is evidence that the population bottleneck may have allowed deleterious alleles to become more prevalent in the population due to genetic drift.[16] As a result, this group has been particularly intensively studied, so many mutations have been identified as common in Ashkenazis.[17] Of these diseases, many also occur in other Jewish groups and in non-Jewish populations, although the specific mutation which causes the disease may vary between populations. For example, two different mutations in the glucocerebrosidase gene causes Gaucher’s disease in Ashkenazis, which is their most common genetic disease, but only one of these mutations is found in non-Jewish groups.[4] A few diseases are unique to this group; for example, familial dysautonomia is almost unknown in other populations.[4]
Genetic disorders common in Ashkenazi Jews[1]
Genetic disorders common in Ashkenazi Jews[1] Disease Mode of inheritance Gene Carrier frequency Favism X-linked G6PD
Bloom syndrome Autosomal recessive BLM 1/100 Breast cancer and ovarian cancer Autosomal dominant BRCA1 or BRCA2 1/100 and 1/75, respectively Canavan disease Autosomal recessive ASPA 1/60 Congenital deafness Autosomal recessive GJB2 or GJB6 1/25 Cystic fibrosis Autosomal recessive CFTR 1/25 Haemophilia C Autosomal recessive F11 1/12 Familial dysautonomia Autosomal recessive IKBKAP 1/30 Familial hypercholesterolemia Autosomal dominant LDLR 1/69 Familial hyperinsulinism Autosomal recessive ABCC8 1/125–1/160 Fanconi anemia C Autosomal recessive FACC 1/100 Gaucher disease Autosomal recessive GBA 1/7–1/18 Glycogen Storage Disease type 1a Autosomal recessive G6PC 1/71 Mucolipidosis IV Autosomal recessive MCOLN1 1/110 Niemann–Pick (type A) Autosomal recessive SMPD1 1/90 Nonclassical 21 OHase deficiency Autosomal recessive CPY21 1/6 Parkinson’s disease Autosomal dominant LRRK2 1/42[18] Tay–Sachs Autosomal recessive HEXA 1/25–1/30 Torsion dystonia Autosomal dominant DYT1 1/4000 Usher syndrome Autosomal recessive PCDH15 1/72
Tay–Sachs disease
Tay–Sachs disease, which can present as a fatal illness of children that causes mental deterioration prior to death, was historically more prevalent among Ashkenazi Jews, although high levels of the disease are also found in some Pennsylvania Dutch, southern Louisiana Cajun, and eastern Quebec French Canadian populations.[20] Since the 1970s, however, proactive genetic testing has been quite effective in eliminating Tay–Sachs from the Ashkenazi Jewish population.
Lipid transport diseases
Gaucher’s disease, in which lipids accumulate in inappropriate locations, occurs most frequently among Ashkenazi Jews; the mutation is carried by roughly one in every 15 Ashkenazi Jews, compared to one in 100 of the general American population. Gaucher’s disease can cause brain damage and seizures, but these effects are not usually present in the form manifested among Ashkenazi Jews; while sufferers still bruise easily, and it can still potentially rupture the spleen, it generally has only a minor impact on life expectancy.
Ashkenazi Jews are also highly affected by other lysosomal storage diseases, particularly in the form of lipid storage disorders. Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis[24] and Niemann–Pick disease, the latter of which can prove fatal.
The occurrence of several lysosomal storage disorders in the same population suggests the alleles responsible might have conferred some selective advantage in the past. This would be similar to the hemoglobin allele which is responsible for sickle-cell disease, but solely in people with two copies; those with just one copy of the allele have a sickle cell trait and gain partial immunity to malaria as a result. This effect is called heterozygote advantage.
Some of these disorders may have become common in this population due to selection for high levels of intelligence (see Ashkenazi intelligence). However, other research suggests no difference is found between the frequency of this group of diseases and other genetic diseases in Ashkenazis, which is evidence against any specific selectivity towards lysosomal disorders.
Familial dysautonomia
Diseases inherited in an autosomal recessive pattern often occur in endogamous populations. Among Ashkenazi Jews, a higher incidence of specific genetic disorders and hereditary diseases have been verified, including:
Colorectal cancer due to hereditary nonpolyposis colorectal cancer[33] Congenital adrenal hyperplasia (nonclassical form) [34] Congenital insensitivity to pain with anhidrosis[35] Crohn’s disease (the NOD2/CARD15 locus appears to be implicated)[36] Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent; this has been attributed to the resistance to intermarriage of this population.[37] Kaposi’s sarcoma[38] Maple syrup urine disease [39] Mucolipidosis IV [40] Nonsyndromic hearing loss and deafness, DFNB1 (connexin 26) [41] Parkinson’s disease (G2019S/LRRK2 mutation;[42] The LRRK2 mutation on the main haplotype, shared by Ashkenazi Jews, North Africans, and Europeans, initially arose in the Near East at least 4000 years ago. Because of a founder effect, the ancestors of present-day Ashkenazi Jews may have kept the low-frequency G2019S mutation through the different diasporas, whereas Near Eastern daughter populations lost the mutation. The mutation might then have been “reintroduced by recurrent gene flow from Ashkenazi populations to other Jewish, European, and North African populations. The present-day frequency of the mutation in control populations (0.05% in Europeans, 0.5% in North-African Arabs and 1% in Ashkenazi Jews) may support this scenario”.)[43][44] Pemphigus vulgaris[45] Schizophrenia (DNST3 gene variation)[46] Von Gierke disease[47] Zellweger syndrome Non-Ashkenazi disorders In contrast to the Ashkenazi population, Sephardic and Mizrahi Jews are much more divergent groups, with ancestors from Spain, Portugal, Morocco, Tunisia, Algeria, Italy, Libya, the Balkans, Iran, Iraq, India, and Yemen, with specific genetic disorders found in each regional group, or even in specific subpopulations in these regions.
Genetic disorders common in Sephardic and Mizrahi Jews Disease Mode of inheritance Gene or enzyme Carrier frequency Populations Oculocutaneous albinism Autosomal recessive TYR 1/30 Morocco Ataxia telangiectasia Autosomal recessive ATM 1/80 Morocco, Tunisia Creutzfeldt–Jakob disease Autosomal dominant PRNP 1/24,000 Libya Cerebrotendinous xanthomatosis Autosomal recessive CYP27A1 1/70 Morocco Cystinuria Autosomal recessive SLC7A9 1/25 Libya Familial Mediterranean fever Autosomal recessive MEFV 1/5–7 All MENA (Middle Eastern and North African countries). Glycogen storage disease III Autosomal recessive AGL 1/35 Morocco, North Africa Limb girdle muscular dystrophy Autosomal recessive DYSF 1/10 Libya Tay–Sachs Autosomal recessive HEXA 1/110 Morocco 11-β-hydroxylase deficiency Autosomal recessive CYP11B1 1/30–1/128 Morocco Genetic disorders common in Mizrahi Jews
Disease Mode of inheritance Gene or enzyme Carrier frequency Populations Beta-thalassemia Autosomal recessive HBB 1/6 Iran, Iraq, Kurdistan Factor VII deficiency Autosomal recessive F7 1/40 Iran Familial Mediterranean fever Autosomal recessive, but heterozygous carriers also can show clinical manifestations. MEFV 1/5–1/7 Iraq, Iran, Armenia, North African Jews, Ashkenazi[49] Glucose-6-phosphate dehydrogenase deficiency X-linked G6PD 1/4 Iraq, esp. Kurdistan, Syria and all MENA countries. Female heterozygotes can also show clinical symptoms due to lyonization (X-inactivation) especially during pregnancy.[50] Inclusion body myopathy Autosomal recessive GNE 1/12 Iran Metachromatic leukodystrophy Autosomal recessive ARSA 1/50 Yemen Oculopharyngeal muscular dystrophy Autosomal, recessive or dominant PABPN1 1/7 Bukhara Phenylketonuria Autosomal recessive PAH 1/35 Yemen
https://en.wikipedia.org/wiki/Medical_genetics_of_Jews
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Ashkenazi Jewish Genetic Panel (AJGP) – What Are Ashkenazi Jewish Genetic Diseases?
Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and can cause early death, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during pregnancy through chorionic villus sampling (CVS) or amniocentesis. This testing is done usually if one or both parents are carriers of a genetic disease.
Diseases in this group include:
Bloom syndrome. Babies with this disease are born small and remain shorter than normal as they grow. Their skin may look red, and they have more lung and ear infections than children normally have.
Canavan disease. This disease gradually destroys brain tissue.
Cystic fibrosis. This disease causes very thick mucus in the lungs and problems with digesting food.
Familial dysautonomia (FD). People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination.
Fanconi anemia. People with this problem do not have enough blood cells and have problems with the heart, kidneys, arms, or legs. They also are more likely to get cancer.
Gaucher disease. This disease causes a type of fat called glucocerebroside to build up in certain cells of the liver, spleen, and bone marrow.
Mucolipidosis IV. This problem causes the nervous system to deteriorate, or break down, over time.
Niemann-Pick disease (type A). This disease causes a type of fat called sphingomyelin to build up in cells of the liver, spleen, lymph nodes, and bone marrow.
Tay-Sachs disease. This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system.
Torsion dystonia. People with this problem have ongoing spasms that twist the muscles in their arms, legs, and sometimes their body. Testing for this condition may not always be done.
About 1 out of 4 people of Ashkenazi Jewish heritage is a carrier of one of these genetic conditions, most commonly of Gaucher disease, cystic fibrosis, Tay-Sachs disease, familial dysautonomia, or Canavan disease.1
http://www.webmd.com/children/tc/ashkenazi-jewish-genetic-panel-ajgp-what-are-ashkenazi-jewish-genetic-diseases
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Jewish Genetic Disease Consortium (JGDC)
Sephardic and Mizrahi Diseases
There is no single preconception carrier-screening panel for people of Sephardic or Mizrahi background. Carrier screening is dependent upon country of origin. People of Sephardic or Mizrahi background should seek genetic counseling.
http://www.jewishgeneticdiseases.org/jewish-genetic-diseases/
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All About Genetic Diseases That Strike Sephardic Jews
The Forward Staff has compiled a guide to the most common heritable “Sephardic Jewish diseases,” with information on symptoms, causes and carrier rates for each, as well as the geographic regions from which affected Jewish populations originate.
These diseases are mostly caused by recessive genetic mutations, meaning that mutations must be present in both copies (alleles) of the gene for the associated condition to be expressed. When both parents carry a given mutation, each child of theirs has a 25% of developing the associated disease. This is why couples with at least one partner of Sephardic or Mizrahi origin are encouraged to undergo screening if they plan to have children.
Unlike Ashkenazi Jews, who share ethnic commonalities regardless of country of origin,” Sephardi” is a broad label. Subgroups like Moroccan Jews or Iranian Jews have distinct characteristics, making universal screening panels for inherited genetic diseases for all Sephardic and Mizrahi Jews impractical. Therefore, it’s best to discuss one’s family heritage with a doctor or genetic counselor in order to receive screening recommendations.
The Sephardic Health Organization for Referral and Education recommends that non-Ashkenazi Jewish couples get tested for the 19 most common Ashkenazi Jewish diseases as well — because some of the diseases, such as cystic fibrosis and spinal muscular atrophy, can also be found among non-Ashkenazi populations. Screenings usually require blood samples.
Data on the estimated carrier frequency and the affected Jewish population are courtesy of the Jewish Genetic Disease Consortium in New York.
Dr. Adele Schneider, the medical director of the Einstein Victor Center for the Prevention of Jewish Genetic Diseases in Philadelphia, Pennsylvania, has contributed to this section.
(1) Alpha Thalassemia
(2) Ataxia Telangiectasia
(3) Beta Thalassemia
(4) Corticosterone Methyloxidase Type 2 Deficiency
(5) Costeff Optical Atrophy
(6) Cystic Fibrosis
(7) Familial Mediterranean Fever
(8) Glycogen Storage Disease Type 3
(9) G6PD Deficiency
(10) Hereditary Inclusion Body Myopathy
(11) Limb-Girdle Muscular Dystrophy Type 2B
(12) Metachromatic Leukodystrophy
(13) Normophosphatemic Familial Tumoral Calcinosis
(14) Polyglandular Deficiency Syndrome
(15) Pseudocholinesterase Deficiency
(16) Spinal Muscular Atrophy Type 1A
(17) Wolman’s Disease
http://forward.com/culture/203321/all-about-genetic-diseases-that-strike-sephardic-j/
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