MeSH Browser

MeSH Supplementary: Coenzyme Q10 Deficiency
Unique ID: C564403
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C564403
Entry Term(s): CoQ Deficiency; Coenzyme Q Deficiency; Coq10 Deficiency, Primary; Ubiquinone Deficiency
Heading Mapped to: *Ataxia; Ubiquinone / deficiency; *Muscle Weakness; *Mitochondrial Diseases
Frequency: 119
Note: A rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (UBIQUINONE). There are five major phenotypes: an encephalomyopathic form with SEIZURES and ATAXIA ; a multisystem infantile form with encephalopathy, CARDIOMYOPATHY and RENAL FAILURE; a predominantly cerebellar form with ataxia and cerebellar atrophy; LEIGH SYNDROME with growth retardation; and an isolated myopathic form. The molecular disease mechanism remains unknown, but mutations in a number of genes have been identified, OMIM: 607426
Date of Entry: 2012/11/05
Revision Date: 2015/08/18

Concept UI: M0564703
Terms: Coenzyme Q10 Deficiency Preferred Term
Term UI T804812
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Coenzyme Q Deficiency
Term UI T804813
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Coq10 Deficiency, Primary
Term UI T804815
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Ubiquinone Deficiency
Term UI T804816
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); CoQ Deficiency
Term UI T825885
Date07/10/2012
LexicalTag NON
ThesaurusID OMIM (2013)

Coenzyme Q10 Deficiency MeSH Supplementary Concept Data 2024