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=2) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Leber optic atrophy (MT inheritance) |
•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 | PubMed |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (MT inheritance) |
•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 | PubMed |