mitochondrial complex I deficiency Disease Ontology Browser

Disease Ontology Browser

mitochondrial complex I deficiency (DOID:0060536)
Alliance: disease page
Synonyms: isolated mitochondrial respiratory chain complex I deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-ubiquinone reductase deficiency
Alt IDs: MESH:C537475, 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.

Disease References using Mouse Models (5)

Allelic Composition	Genetic Background	Reference	Phenotypes
Aifm1Hq/Aifm1Hq	B6CBACa A^w-J/A-Aifm1^Hq/J	J:144096	View
Aifm1Hq/Y	B6CBACa A^w-J/A-Aifm1^Hq/J	J:144096	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Ndufa1tm1.1Nay/Ndufa1tm1.1Nay	involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac	J:257477	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Ndufs4tm1Capt/Ndufs4+	involves: 129S6/SvEvTac * C57BL/6NTac	J:192154	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Ndufs6Gt(AR0138)Wtsi/Ndufs6Gt(AR0138)Wtsi	involves: 129P2/OlaHsd * C57BL/6	J:183619	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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