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Cytochrome-c Oxidase Deficiency MeSH Descriptor Data 2023


MeSH Heading
Cytochrome-c Oxidase Deficiency
Tree Number(s)
C16.320.565.240
C18.452.660.195
Unique ID
D030401
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D030401
Scope Note
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)
Entry Version
CYTOCHROME C OXIDASE DEFIC
Entry Term(s)
Complex IV Deficiency
Cox Deficiency
Cytochrome C Oxidase Deficiency
Cytochrome Oxidase Deficiency
Deficiency, Cytochrome-c Oxidase
Mitochondrial Complex IV Deficiency
Previous Indexing
Cytochrome-c Oxidase/deficiency (1976-2001)
Leigh Disease (1997-2001)
See Also
Electron Transport Complex IV
Public MeSH Note
2002
History Note
2002
Date Established
2002/01/01
Date of Entry
2001/07/25
Revision Date
2013/07/08
Cytochrome-c Oxidase Deficiency Preferred
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