Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD)

URI: https://gptkb.org/entity/Inclusion_body_myopathy_with_Paget_disease_of_bone_and_frontotemporal_dementia_(IBMPFD)
GPTKB entity
Statements (18)
Predicate Object
gptkbp:instanceOf rare disease
gptkbp:abbreviation IBMPFD
gptkbp:affects gptkb:nervous_system
skeletal system
musculoskeletal system
gptkbp:firstDescribed 2000
https://www.w3.org/2000/01/rdf-schema#label Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD)
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:VCP_gene
gptkbp:OMIM 167320
gptkbp:onset adulthood
gptkbp:symptom muscle weakness
frontotemporal dementia
Paget disease of bone
gptkbp:synonym Multisystem proteinopathy type 1
VCP disease
gptkbp:bfsParent gptkb:VCP
gptkbp:bfsLayer 7