Catalog
Mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies
No MMS code
Link to WHO Definition
Mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies – http://id.who.int/icd/entity/1424131741
Mitochondrial disorders of nuclear DNA (nDNA) origin include oxidative phosphorylation (OXPHOS) disorders (such as Leigh syndrome, paraganglioma), defects in nuclear-encoded mitochondrial proteins for mtDNA integrity (progressive external ophthalmoplegia (PEO) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome), and mitochondrial disorders with secondary effects on the OXPHOS system (Friedreich ataxia and hereditary spastic paraplegia).
Parents
Children
- 5C53.20 Mitochondrial DNA depletion syndromes
- 5C53.22 Coenzyme Q10 deficiency
- Exercise intolerance with lactic acidosis
- Renal tubulopathy - encephalopathy - liver failure
- 5C53.21 Multiple mitochondrial DNA deletion syndromes
- Björnstad syndrome
- 5C53.23 Mitochondrial protein translation defects
- GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome
- 5C53.24 Leigh syndrome
- Cardioencephalopathy with hyperammonaemia
- Isolated oxidative phosphorylation defects with variable phenotype, not elsewhere classified