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adult-onset distal myopathy due to VCP mutation
Disease Summary
Associated Targets ()
Mondo Description Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
Mondo Term and Equivalent IDs
MONDO:0018006: adult-onset distal myopathy due to VCP mutation
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:329478
UMLS:CN204218
MONDO:0018006
High level summary of knowledge for a disease, including descriptions and datasource references.