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Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Disease definition
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.
ORPHA:2443
Classification level: Group of disorders- Synonym(s):
- Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
- OXPHOS disease due to nDNA anomalies
- OXPHOS disease due to nuclear DNA anomalies
- Prevalence: 1-9 / 100 000
- Inheritance: Autosomal recessive
- Age of onset: All ages
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2014) Nederlands (2014) Deutsch (2004) Français (2004) Italiano (2004)
Detailed information
Guidelines
- Clinical practice guidelines
- Deutsch (2009) - AWMF
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information