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Summary Literature (0)
DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia


Disease Ontology Definition:A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP).

Synonyms: IBMPFD, inclusion body myopathy with Paget's disease of bone and frontotemporal dementia

Xenbase Genes : hnrnpa2b1, hnrnpa1, vcp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000507 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

OMIM:
OMIM:167320 - INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1
OMIM:615422 - INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2
OMIM:615424 - INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)