Preferred Label : cytochrome-c oxidase deficiency;
MeSH 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);
MeSH synonym : cytochrome-c oxidase deficiencies; cytochrome oxidase deficiency; oxidase deficiency, cytochrome-c; oxidase deficiency, cytochrome; deficiency, cytochrome c oxidase; deficiency, cytochrome oxidase; oxidase deficiencies, cytochrome; deficiencies, cytochrome-c oxidase; oxidase deficiencies, cytochrome-c; cytochrome oxidase deficiencies; deficiencies, cytochrome oxidase; deficiency, cytochrome-c oxidase; cytochrome C oxidase deficiency; mitochondrial complex iv deficiency; cox deficiency; complex IV deficiency; complex IV deficiencies; deficiencies, complex IV; deficiency, complex IV; cox deficiencies; deficiencies, cox; deficiency, cox;
Wikipedia link : https://en.wikipedia.org/wiki/Cytochrome-c oxidase deficiency;
Origin ID : D030401;
UMLS CUI : C0268237;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
MeSH Descriptor(s) used for indexing
Record concept(s)
Related MeSH Supplementary Concept(s)
See also
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
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)
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=70474
France
French
rare diseases
cytochrome-c oxidase deficiency
cardiomyopathies
metabolism, inborn errors
muscle hypotonia
scientific and technical information
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=70473
France
French
rare diseases
cytochrome-c oxidase deficiency
ataxia
scientific and technical information
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=70472
false
false
France
French
leigh disease
cytochrome-c oxidase deficiency
leigh syndrome , french canadian type
leigh disease
cytochrome-c oxidase deficiency
scientific and technical information
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=254905
2011
France
scientific and technical information
cytochromes c
cytochrome-c oxidase deficiency
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=254864
2011
France
scientific and technical information
cytochrome-c oxidase deficiency
mitochondrial myopathies
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