Details of Disease

General Information of Disease (ID: DISR6RAR)

• Disease Name: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
• Synonyms: IBMPFD3; multisystem Proteinopathy 3; inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1; HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3
• Definition: 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.
• Disease Hierarchy:
  DISK4S94: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  DISR6RAR: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
• Disease Identifiers:
  MONDO ID: MONDO_0014179
  UMLS CUI: C3809469
  OMIM ID: 615424
  MedGen ID: 815799

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HNRNPA1	TTPJ9XK	Strong	Autosomal dominant	[1]
HNRNPA1	TTPJ9XK	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNRNPA1	OTIRPN6B	Strong	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.