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inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Disease Summary
Associated Targets (3)
Tchem

2

Tbio

1


Explore Associated Targets
Mondo Description Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
Disease Ontology Description A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
Mondo Term and Equivalent IDs
MONDO:0000507:  inclusion body myopathy with Paget disease of bone and frontotemporal dementia
DC:0000545: 
GARD:0010899: 
OMIMPS:167320: 
Orphanet:52430: 
SCTID:703544004: 
UMLS:C1833662: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)