Search Ontology:
Human Disease

mitochondrial complex I deficiency

Term ID
DOID:0060536
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
  • ORDO:2609
  • SNOMEDCT_US_2023_03_01:237988006
  • UMLS_CUI:C1838979
Ontology
Human Disease   ( DOID:0060536 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models