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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0013117:  progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
DOID:0111518: 
MESH:C567768: 
UMLS:C2751319: