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inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.
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:0014179:  inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
DOID:0111386: 
UMLS:C3809469: