"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
|
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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1999 | 1 | 0 | 1 |
2002 | 2 | 0 | 2 |
2003 | 1 | 0 | 1 |
2006 | 1 | 0 | 1 |
2019 | 0 | 1 | 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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Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia. Neuromuscul Disord. 2019 05; 29(5):358-367.
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Binding of copper is a mechanism of homocysteine toxicity leading to COX deficiency and apoptosis in primary neurons, PC12 and SHSY-5Y cells. Neurobiol Dis. 2006 Sep; 23(3):725-30.
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Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol. 2003 Jun-Jul; 24(6):1188-91.
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Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet. 2002 Aug 01; 11(16):1797-805.
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A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol. 2002 Mar; 17(3):233-6.
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Metabolic consequences of the cytochrome c oxidase deficiency in brain of copper-deficient Mo(vbr) mice. J Neurochem. 1999 Apr; 72(4):1580-5.