Details of Disease

General Information of Disease (ID: DISHQXXA)

• Disease Name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
• Synonyms: multisystem proteinopathy 1; muscular dystrophy, limb-girdle, with Paget disease of bone; pagetoid amyotrophic lateral sclerosis; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; lower motor neuron degeneration with Paget-like bone disease; IBMPFD1; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1; inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1
• Definition: 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.
• Disease Hierarchy:
  DISK4S94: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  DISHQXXA: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
• Disease Identifiers:
  MONDO ID: MONDO_0008178
  UMLS CUI: C4551951
  OMIM ID: 167320
  MedGen ID: 1641069

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VCP	OTWIX1JU	Strong	Autosomal dominant	[1]
ATAD1	OTJ02XFL	Strong	Biomarker	[3]
CFDP1	OTXY7J96	Strong	Genetic Variation	[4]
PSMD2	OT6HZHN7	Strong	Genetic Variation	[4]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VCP	TTYWTI0	Strong	Autosomal dominant	[1]
VCP	TTHNLSB	Strong	CausalMutation	[2]

References

• [1] Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004 Apr;36(4):377-81. doi: 10.1038/ng1332. Epub 2004 Mar 21.
• [2] Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.Clin Genet. 2018 Jan;93(1):119-125. doi: 10.1111/cge.13095.
• [3] Influence of HLA-DRB-1 alleles on the production of antibody against CSP, MSP-1, AMA-1, and DBP in Brazilian individuals naturally infected with Plasmodium vivax.Acta Trop. 2012 Feb;121(2):152-5. doi: 10.1016/j.actatropica.2011.10.009. Epub 2011 Nov 4.
• [4] Interaction between the AAA(+) ATPase p97 and its cofactor ataxin3 in health and disease: Nucleotide-induced conformational changes regulate cofactor binding.J Biol Chem. 2017 Nov 10;292(45):18392-18407. doi: 10.1074/jbc.M117.806281. Epub 2017 Sep 22.