Preferred Label : Progressive external ophthalmoplegia, autosomal dominant, type 5;
ICD-11 definition : Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-5
(PEOA5) is caused by heterozygous mutation in the nuclear-encoded RRM2B gene (604712)
on chromosome 8q23.1. Patients had progressive external ophthalmoplegia with variable
additional features, including ptosis, fatigue, dysphagia, proximal myopathy, dysarthria,
ataxia, gastrointestinal symptoms, and diabetes. Skeletal muscle biopsy shows a mosaic
defect of Cytochrome c oxidase activity and multiple mithocondrial DNA deletions.;
ICD-11 synonym : PEOA5 - [progressive external ophthmoplegia, autosomal dominant, type 5]; progressive external ophthmoplegia, autosomal dominant, type 5;
ICD-11 acronym : PEOA5;
Origin ID : 1564733568;
UMLS CUI : C2751319;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-5
(PEOA5) is caused by heterozygous mutation in the nuclear-encoded RRM2B gene (604712)
on chromosome 8q23.1. Patients had progressive external ophthalmoplegia with variable
additional features, including ptosis, fatigue, dysphagia, proximal myopathy, dysarthria,
ataxia, gastrointestinal symptoms, and diabetes. Skeletal muscle biopsy shows a mosaic
defect of Cytochrome c oxidase activity and multiple mithocondrial DNA deletions.
