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Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Cytochrome-c Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Cytochrome-c Oxidase Deficiency
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Cytochrome-c Oxidase Deficiency

Terme préférentiel

Cytochrome-c Oxidase Deficiency  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Concepts associés

Synonyme(s)

  • Complex IV Deficiency
  • Cox Deficiency
  • Cytochrome C Oxidase Deficiency
  • Cytochrome Oxidase Deficiency
  • Deficiency, Cytochrome-c Oxidase
  • Mitochondrial Complex IV Deficiency

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-WZNR8V5D-S

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RDF/XML TURTLE JSON-LD Date de création 25/07/2001, dernière modification le 08/07/2013