GenTIGSA Gene Database on Rare Genetic Disorders
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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 list based on single and multiple genes


Disorder Name (Total=2) Aliases Category Gene Indian Reports Link
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
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