ZFIN Human Disease: mitochondrial complex I deficiency

OBO ID: DOID:0060536

Term Name:	mitochondrial complex I deficiency		Search Ontology:
Synonyms:	isolated mitochondrial respiratory chain complex I deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-CoQ reductase deficiency isolated NADH-ubiquinone reductase deficiency
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. http://www.omim.org/entry/252010
References:	GARD:3908 MESH:C537475 OMIM:252010 ORDO:2609 SNOMEDCT_US_2023_03_01:237988006 UMLS_CUI:C1838979
Ontology:	Human Disease ( DOID:0060536 )

Relationships

is a type of:	mitochondrial metabolism disease mitochondrial metabolism disease Show first 5 Terms
has subtype:	mitochondrial type mitochondrial complex I deficiency nuclear type mitochondrial complex I deficiency nuclear type mitochondrial complex I deficiency 35 mitochondrial type mitochondrial complex I deficiency nuclear type mitochondrial complex I deficiency nuclear type mitochondrial complex I deficiency 35 Show first 5 Terms

OTHER mitochondrial complex I deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFS4	ndufs4	Mitochondrial complex I deficiency, nuclear type 1	252010

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None