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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
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 SLC25A4 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:0012238: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111517
MESH:C563750
OMIM:609283
UMLS:C1836460
MONDO:0012238
High level summary of knowledge for a disease, including descriptions and datasource references.