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