OntologyTerm
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

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   May 11th, 2017 at 3:52pm

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definition 
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms). -- Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. (EFO)
namespace 
http://www.orpha.net/ORDO
parents 
  1. no view permissions
preferred_name 
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
references 
  1. None
source_ontologies 
  1. Experimental Factor Ontology
synonyms 
  1. Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
  2. OXPHOS disease due to nDNA anomalies
  3. OXPHOS disease due to nuclear DNA anomalies
  4. mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
  5. mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
term_id 
Orphanet:2443
term_name 
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
term_url 
http://www.orpha.net/ORDO/Orphanet_2443