Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
1;
Symbol : PEOB1;
CISMeF acronym : PEOB1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal recessive 1;
Description : Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial
DNA (mtDNA) deletions in skeletal muscle. 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. Less common features include mitral
valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant
and autosomal recessive inheritance can occur; autosomal recessive inheritance is
usually more severe (Filosto et al., 2003; Luoma et al., 2004). Drachman (1975) gave
a classification of disorders associated with progressive external ophthalmoplegia,
which he termed 'ophthalmoplegia plus' (Drachman, 1968).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the DNA polymerase-gamma gene (POLG, 174763.0002);
Laboratory abnormalities : Increased CSF protein; Increased creatine kinase, mild;
Prefixed ID : #258450;
Origin ID : 258450;
UMLS CUI : C4225153;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
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