Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 (PEOA4)

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Disease Ontology 12 DOID:0111525 OMIM 56 610131 OMIM Phenotypic Series 56 PS157640 MeSH 43 D017246

MedGen 41 C1864668 SNOMED-CT via HPO 68 102594003 11934000 128613002 14760008 16331000 166603001 166643006 193093009 196753007 224958001 225595004 235595009 235675006 246545002 252157006 255314001 263681008 267044007 313307000 36440009 413924001 432788009 44808001 46252003 68574006 68962001 698065002 698247007 713514005 75183008 84757009 91175000 95646004 95666008 more UMLS 71 C0022541 C0162674 C1864668

UniProtKB/Swiss-Prot : ⁷³ Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4, also known as autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 4, is related to chronic progressive external ophthalmoplegia and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1, and has symptoms including seizures, muscle weakness and myalgia. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit). The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and liver, and related phenotypes are seizures and failure to thrive

Disease Ontology : ¹² A chronic progressive external ophthalmoplegia that has material basis in heterozygous mutation in POLG2 on chromosome 17q23.3.

OMIM : ⁵⁶ Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). (610131)

Clinical features from OMIM:

610131

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