has material basis in germline mutation in VCP inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/inclusion_body_myopathy_with_early_onset_paget_disease_of_bone_with_or_without_frontotemporal_dementia_1 https://www.malacards.org/card/inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_1 NCIT:C122663 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1 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. MESH:C563476 OMIM:167320 MONDO:0008178 MEDGEN:1641069 DOID:0111385 UMLS:C4551951 IBMPFD1 GARD:0024608