MeSH Browser

MeSH Heading: Cytochrome-c Oxidase Deficiency
Tree Number(s): C16.320.565.240; C18.452.660.195
Unique ID: D030401
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D030401
Scope Note: 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)
Entry Version: CYTOCHROME C OXIDASE DEFIC
Entry Term(s): Complex IV Deficiency; Cox Deficiency; Cytochrome C Oxidase Deficiency; Cytochrome Oxidase Deficiency; Deficiency, Cytochrome-c Oxidase; Mitochondrial Complex IV Deficiency
Previous Indexing: Cytochrome-c Oxidase/deficiency (1976-2001); Leigh Disease (1997-2001)
See Also: Electron Transport Complex IV
Public MeSH Note: 2002
History Note: 2002
Date Established: 2002/01/01
Date of Entry: 2001/07/25
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0335492
Scope Note: 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)
Terms: Cytochrome-c Oxidase Deficiency Preferred Term
Term UI T443344
Date04/18/2001
LexicalTag NON
ThesaurusID; Cox Deficiency
Term UI T812183
Date11/15/2011
LexicalTag NON
ThesaurusID; Cytochrome C Oxidase Deficiency
Term UI T812182
Date11/15/2011
LexicalTag NON
ThesaurusID; Cytochrome Oxidase Deficiency
Term UI T447259
Date05/21/2001
LexicalTag NON
ThesaurusID NLM (2002); Deficiency, Cytochrome-c Oxidase
Term UI T443346
Date04/18/2001
LexicalTag NON
ThesaurusID NLM (2002); Mitochondrial Complex IV Deficiency
Term UI T843578
Date05/03/2013
LexicalTag NON
ThesaurusID; Complex IV Deficiency
Term UI T843579
Date05/03/2013
LexicalTag NON
ThesaurusID GHR (2014)

Cytochrome-c Oxidase Deficiency MeSH Descriptor Data 2025