Mitochondrial inheritance
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=2) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Leber optic atrophy |
• Leber's hereditary optic neuropathy (LHON) • Leber hereditary optic neuropathy • Leber's disease • Leber's optic atrophy • Optic Atrophy, Hereditary, Leber |
Metabolic disorders |
MT-CO3 mitochondrially encoded cytochrome c oxidase III MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND4L mitochondrially encoded NADH 4L dehydrogenase MT-ND4 mitochondrially encoded NADH dehydrogenase 4 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
• MELAS syndrome • Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes • Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes • Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes |
Metabolic disorders |
MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 MT-TR mitochondrially encoded tRNA arginine MT-TH mitochondrially encoded tRNA histidine MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) MT-TE mitochondrially encoded tRNA glutamic acid MT-TT mitochondrially encoded tRNA threonine MT-TP mitochondrially encoded tRNA proline MT-TV mitochondrially encoded tRNA valine MT-TI mitochondrially encoded tRNA isoleucine MT-TQ mitochondrially encoded tRNA glutamine MT-TM mitochondrially encoded tRNA methionine MT-TW mitochondrially encoded tRNA tryptophan MT-TF mitochondrially encoded tRNA phenylalanine MT-TD mitochondrially encoded tRNA aspartic acid MT-TK mitochondrially encoded tRNA lysine MT-TG mitochondrially encoded tRNA glycine MT-CYB mitochondrially encoded cytochrome b |
Reports Updated as of Jul 20, 2024 |
PubMed |