Cytochrome-c Oxidase Deficiency
"Cytochrome-c Oxidase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D030401
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MeSH Number(s) |
C16.320.565.240 C18.452.660.195
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Concept/Terms |
Cytochrome-c Oxidase Deficiency- Cytochrome-c Oxidase Deficiency
- Cytochrome-c Oxidase Deficiencies
- Deficiencies, Cytochrome-c Oxidase
- Oxidase Deficiencies, Cytochrome-c
- Oxidase Deficiency, Cytochrome-c
- Cytochrome C Oxidase Deficiency
- Complex IV Deficiency
- Complex IV Deficiencies
- Deficiencies, Complex IV
- Deficiency, Complex IV
- Deficiency, Cytochrome-c Oxidase
- Deficiency, Cytochrome c Oxidase
- Mitochondrial Complex IV Deficiency
- Cox Deficiency
- Cox Deficiencies
- Deficiencies, Cox
- Deficiency, Cox
- Cytochrome Oxidase Deficiency
- Cytochrome Oxidase Deficiencies
- Deficiencies, Cytochrome Oxidase
- Deficiency, Cytochrome Oxidase
- Oxidase Deficiencies, Cytochrome
- Oxidase Deficiency, Cytochrome
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Below are MeSH descriptors whose meaning is more general than "Cytochrome-c Oxidase Deficiency".
Below are MeSH descriptors whose meaning is more specific than "Cytochrome-c Oxidase Deficiency".
This graph shows the total number of publications written about "Cytochrome-c Oxidase Deficiency" by people in this website by year, and whether "Cytochrome-c Oxidase Deficiency" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2013 | 1 | 0 | 1 | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cytochrome-c Oxidase Deficiency" by people in Profiles.
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Jestin M, Kapnick SM, Tarasenko TN, Burke CT, Zerfas PM, Diaz F, Vernon H, Singh LN, Sokol RJ, McGuire PJ. Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicity. Mol Metab. 2020 07; 37:100981.
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De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects. Phytother Res. 2014 Feb; 28(2):312-6.
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Parker WD, Filley CM, Parks JK. Cytochrome oxidase deficiency in Alzheimer's disease. Neurology. 1990 Aug; 40(8):1302-3.
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