Details of Disease | DrugMAP

General Information of Disease (ID: DIS4PJCD)

Disease Name	Adult-onset distal myopathy due to VCP mutation
Definition	Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
Disease Hierarchy	DISFMEP5: Autosomal dominant distal myopathy DIS4PJCD: Adult-onset distal myopathy due to VCP mutation
Disease Identifiers	MONDO ID MONDO_0018006 UMLS CUI C4749506 MedGen ID 1660404 Orphanet ID 329478 SNOMED CT ID 770792007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VCP	OTWIX1JU	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VCP	TTYWTI0	Supportive	Autosomal dominant	[1]
VCP	TTHNLSB	Definitive	GermlineCausalMutation	[1]
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References

1	Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008.