loading...| Preferred Name |
mitochondrial complex I deficiency |
| Synonyms |
isolated NADH-ubiquinone reductase deficiency |
| Definitions |
A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060536 |
| database_cross_reference |
GARD:3908 MESH:C537475 SNOMEDCT_US_2022_09_01:237988006 OMIM:252010 ORDO:2609 UMLS_CUI:C1838979 |
| definition |
A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. |
| has exact synonym |
isolated NADH-ubiquinone reductase deficiency isolated NADH-CoQ reductase deficiency isolated mitochondrial respiratory chain complex I deficiency isolated NADH-coenzyme Q reductase deficiency |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060536 |
| in_subset | |
| label |
mitochondrial complex I deficiency |
| notation |
DOID:0060536 |
| prefLabel |
mitochondrial complex I deficiency |
| subClassOf |