Preferred Label : Progressive external ophthalmoplegia, autosomal dominant, type 1;
ICD-11 definition : Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-1
(PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG;
174763) on chromosome 15q25. The most common clinical features include adult onset
of weakness of the external eye muscles and exercise intolerance. Additional symptoms
are variable, and may include cataracts, hearing loss, sensory axonal neuropathy,
ataxia, depression, hypogonadism, and parkinsonism. Progressive external ophthalmoplegia
caused by mutation in the POLG gene is associated with more complicated phenotypes
than those forms caused by mutation in the ANT1 or C10ORF2 genes.;
ICD-11 synonym : PEOA1 - [Progressive external ophthalmoplegia, autosomal dominant, type 1];
ICD-11 acronym : PEOA1;
Origin ID : 1743854054;
UMLS CUI : C1834846;
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-1
(PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG;
174763) on chromosome 15q25. The most common clinical features include adult onset
of weakness of the external eye muscles and exercise intolerance. Additional symptoms
are variable, and may include cataracts, hearing loss, sensory axonal neuropathy,
ataxia, depression, hypogonadism, and parkinsonism. Progressive external ophthalmoplegia
caused by mutation in the POLG gene is associated with more complicated phenotypes
than those forms caused by mutation in the ANT1 or C10ORF2 genes.
