Diseases

Cytochrome-c Oxidase Deficiency

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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 Record

Classification

Broader headings

Related Concepts

Knowledge Graph

Loading graph…

Drag nodes to rearrange; hover to trace links; click a node to open its page.

MeSH Record

See Also

MeSH Record

Synonyms

22 entry terms
  • Complex IV Deficiency
  • Cox Deficiency
  • Cytochrome C Oxidase Deficiency
  • Cytochrome Oxidase Deficiency
  • Deficiency, Cytochrome-c Oxidase
  • Mitochondrial Complex IV Deficiency
  • Complex IV Deficiencies
  • Cox Deficiencies
  • Cytochrome Oxidase Deficiencies
  • Cytochrome-c Oxidase Deficiencies
  • Deficiencies, Complex IV
  • Deficiencies, Cox
  • Deficiencies, Cytochrome Oxidase
  • Deficiencies, Cytochrome-c Oxidase
  • Deficiency, Complex IV
  • Deficiency, Cox
  • Deficiency, Cytochrome Oxidase
  • Deficiency, Cytochrome c Oxidase
  • Oxidase Deficiencies, Cytochrome
  • Oxidase Deficiencies, Cytochrome-c
  • Oxidase Deficiency, Cytochrome
  • Oxidase Deficiency, Cytochrome-c

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2002

MeSH Record

Previous Indexing

  • Cytochrome-c Oxidase/deficiency (1976-2001)
  • Leigh Disease (1997-2001)

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.240
  2. C18.452w.660w.195

AMA Style

References

  1. National Library of Medicine. Cytochrome-c Oxidase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D030401. http://id.nlm.nih.gov/mesh/2026/D030401
  2. Cytochrome-c Oxidase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q18556069