List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Leigh syndrome (AR, XLD, MT inheritance) |
Neurodegenerative disorders |
MT-ATP6 mitochondrially encoded ATP synthase 6 MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND2 mitochondrially encoded NADH dehydrogenase 2 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 MT-ND3 mitochondrially encoded NADH dehydrogenase 3 ECHS1 enoyl-CoA hydratase, short chain 1 LRPPRC leucine rich pentatricopeptide repeat containing SURF1 SURF1 cytochrome c oxidase assembly factor NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 SDHA succinate dehydrogenase complex flavoprotein subunit A DLD dihydrolipoamide dehydrogenase NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 COX15 cytochrome c oxidase assembly homolog COX15 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 MRPS34 mitochondrial ribosomal protein S34 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 SCO1 synthesis of cytochrome C oxidase 1 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 MT-ND4 mitochondrially encoded NADH dehydrogenase 4 MT-CO1 mitochondrially encoded cytochrome c oxidase I MT-CO2 mitochondrially encoded cytochrome c oxidase II FASTKD2 FAST kinase domains 2 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 FOXRED1 FAD dependent oxidoreductase domain containing 1 MRPL39 mitochondrial ribosomal protein L39 FBXL4 F-box and leucine rich repeat protein 4 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial VPS13D vacuolar protein sorting 13 homolog D |
Reports | PubMed |