Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4

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OMIM 57 610131 MedGen 42 C1864668 MeSH 44 D017246

SNOMED-CT via HPO 69 263681008 11934000 46252003 267426009 9414007 128613002 246545002 313307000 84757009 91175000 224958001 95646004 36440009 432788009 14760008 225595004 16331000 235595009 698065002 196753007 235675006 166603001 166643006 75183008 68962001 267044007 252157006 255314001 713514005 193093009 95666008 102594003 44808001 698247007 413924001 68574006 more UMLS 73 C1864668

UniProtKB/Swiss-Prot : ⁷⁵ 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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 4, is related to chronic progressive external ophthalmoplegia and kearns-sayre syndrome, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit). Affiliated tissues include liver, skeletal muscle and eye, and related phenotypes are ptosis and seizures

OMIM : ⁵⁷ 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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