Details of Disease

General Information of Disease (ID: DIS3ZXZQ)

• Disease Name: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
• Synonyms: multisystem Proteinopathy 2; IBMPFD2; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2; inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1; HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia
• 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 HNRNPA2B1 gene.
• Disease Hierarchy:
  DISK4S94: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  DIS3ZXZQ: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
• Disease Identifiers:
  MONDO ID: MONDO_0014178
  UMLS CUI: C3809468
  OMIM ID: 615422
  MedGen ID: 815798

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
HNRNPA2B1	TT8UPW6	Strong	Autosomal dominant	[1]
HNRNPA2B1	TT8UPW6	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNRNPA2B1	OTBZKX4P	Strong	Autosomal dominant	[1]

References

• [1] Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy. J Neurogenet. 2011 Dec;25(4):182-8. doi: 10.3109/01677063.2011.627484.
• [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.