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inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Disease Summary
Associated Targets (3)
Tchem
2
Tbio
1
Mondo Description A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
Uniprot Description An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.
Mondo Term and Equivalent IDs
MONDO:0008178: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
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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:0111385
MESH:C563476
NCIT:C122663
OMIM:167320
MONDO:0008178
High level summary of knowledge for a disease, including descriptions and datasource references.