Autosomal recessive, X-linked dominant, Mitochondrial inheritance
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Leigh syndrome | 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 Updated as of May 24, 2023 |
PubMed |