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Sephardic/Mizrachi Jewish Genetic Diseases

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Sephardic/Mizrachi Jews (SMJs) are at risk for certain genetic diseases, just like the Ashkenazi Jews.

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Each sub-population is at risk for a number of genetic diseases. The diseases listed below is most of the diseases found in the SMJ populations and are inherited in one of two ways; autosomal recessive or X-linked pattern.

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Sephardic/Mizrachi Jewish Genetic Diseases (38)

  • Acute Infantile Liver Failure (TRMU)

  • Adrenoleukodystrophy, X-Linked (ABCD1) 

  • Asparagine Synthetase Deficiency (ASNS)

  • Ataxia-Telangiectasia (ATM)

  • Beta-Globin-Related Hemoglobinopathies (HBB)

  • Cerebrotendinous Xanthomatosis (CYP27A1)

  • Chronic Granulomatous Disease (CYBA)

  • Congenital Insensitivity to Pain with Anhidrosis (NTRK1)

  • Congenital Myasthenic Syndrome (RAPSN)

  • Corticosterone Methyloxidase Deficiency (CYP11B2)

  • Cystinosis (CTNS) 

  • Fanconi Anemia, Group A (FANCA)

  • Glycogen Storage Disease Type III (AGL)

  • Glycogen Storage Disease Type V (PYGM)

  • Hereditary Spastic Paraparesis, Type 49 (TECPR2)

  • Homocystinuria due to MTHFR Deficiency (MTHFR)

  • Inclusion Body Myopathy 2 (GNE)

  • Infantile Cerebral and Cerebellar Atrophy (MED17)

  • Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20 (RPE65) 

  • Limb Girdle Muscular Dystrophy Type 2B (DYSF)

  • Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)

  • Metachromatic Leukodystrophy (ARSA)

  • 3-Methylglutaconic Aciduria, Type III / Optic Atrophy3, with Cataract (OPA3)

  • Microphthalmia / Anophthalmia (VSX2) 

  • Mitochondrial Complex I Deficiency (NDUFS6)

  • Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)

  • Myoneurogastrointestinal Encephalopathy (TYMP)

  • Omenn Syndrome (RAG2)

  • Ornithine Aminotransferase Deficiency (OAT)

  • Polyglandular Autoimmune Syndrome Type 1 (AIRE)

  • Pontocerebellar Hypoplasia, Type 6 (RARS2)

  • Progressive Cerebello-Cerebral Atrophy (SEPSECS)

  • Renal Tubular Acidosis and Deafness (ATP6V1B1)

  • Retinitis Pigmentosa 25 (EYS)

  • Retinitis Pigmentosa 26 (CERKL)

  • Usher Syndrome Type IIA (USH2A)

  • Wolman Disease / Cholesteryl Ester Storage Disease (LIPA) 

  • Zellweger Syndrome Spectrum (PEX6) 

Diseases common to all Jewish Groups (10)

  • Cystic Fibrosis (CFTR)

  • Familial Mediterranean

  • Fever (MEFV)

  • Fragile X Syndrome (FMR1)

  • Glycogen Storage Disease Type II (GAA)

  • Phenylalanine Hydroxylase Deficiency (PAH)

  • Retinitis Pigmentosa 28 (FAM161A)

  • Smith-Lemli-Opitz Syndrome (DHCR7)

  • Spinal Muscular Atrophy (SMN1)

  • Tay-Sachs Disease (HEXA)

  • Wilson Disease (ATP7B) 

Adapted with permission from Gene By Gene, Ltd.