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Disease Cytochrome-c Oxidase Deficiency

Name Cytochrome-c Oxidase Deficiency
Synonyms Complex IV Deficiencies | Complex IV Deficiency | Cox Deficiencies | Cox Deficiency | Cytochrome-c Oxidase Deficiencies | Cytochrome C Oxidase Deficiency | Cytochrome Oxidase Deficiencies | Cytochrome Oxidase Deficiency | Deficiencies, Complex IV | Deficiencies, Cox | Deficiencies, Cytochrome-c Oxidase | Deficiencies, Cytochrome Oxidase | Deficiency, Complex IV | Deficiency, Cox | Deficiency, Cytochrome c Oxidase | Deficiency, Cytochrome-c Oxidase | Deficiency, Cytochrome Oxidase | Mitochondrial Complex IV Deficiency | Oxidase Deficiencies, Cytochrome | Oxidase Deficiencies, Cytochrome-c | Oxidase Deficiency, Cytochrome | Oxidase Deficiency, Cytochrome-c
Definition A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D030401
OMIM® ID 220110
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Cytochrome-c Oxidase Deficiency Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Cytochrome-c Oxidase Deficiency Has associated chemicals Has associated genes

Top ↑ Descendants

Cytochrome-c Oxidase Deficiency Has associated chemicals Has associated genes
  Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Has associated chemicals Has associated genes
  Leigh syndrome , French Canadian type Has associated chemicals Has associated genes