Preferred Label : Progressive external ophthalmoplegia, autosomal dominant, type 3;
ICD-11 definition : Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-3
(PEOA3) is caused by heterozygous mutation in the nuclear-encoded twinkle gene (C10ORF2;
606075) on chromosome 10q24.The most common clinical features include adult onset
of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked
autosomal dominant progressive external ophthalmoplegia may have other clinical features
including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy,
cataracts, depression, and endocrine abnormalities. progressive external ophthalmoplegia
caused by mutations in the POLG gene are associated with more complicated phenotypes
than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes.;
ICD-11 synonym : PEOA3 - [progressive external ophthmoplegia, autosomal dominant, type 3]; progressive external ophthmoplegia, autosomal dominant, type 3;
ICD-11 acronym : PEOA3;
Origin ID : 1750994167;
UMLS CUI : C1836439;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-3
(PEOA3) is caused by heterozygous mutation in the nuclear-encoded twinkle gene (C10ORF2;
606075) on chromosome 10q24.The most common clinical features include adult onset
of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked
autosomal dominant progressive external ophthalmoplegia may have other clinical features
including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy,
cataracts, depression, and endocrine abnormalities. progressive external ophthalmoplegia
caused by mutations in the POLG gene are associated with more complicated phenotypes
than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes.
