Details of Disease | DrugMAP

General Information of Disease (ID: DISBXPPB)

Disease Name	Charcot-Marie-Tooth disease type 2Y
Synonyms	autosomal dominant Charcot-Marie-Tooth disease type 2Y; Charcot-Marie-Tooth disease, axonal, type 2Y; Charcot-Marie-Tooth neuropathy, type 2Y; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y; VCP Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease, axonal, type 2y; autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; Charcot-Marie-Tooth disease, type 2Y; Charcot-Marie-Tooth neuropathy type 2Y; Charcot-Marie-Tooth disease type 2 caused by mutation in VCP; CMT2Y; CMT2 due to VCP mutation; autosomal dominant axonal Charcot-Marie-Tooth type 2Y
Definition	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISBXPPB: Charcot-Marie-Tooth disease type 2Y
Disease Identifiers	MONDO ID MONDO_0014735 UMLS CUI C5569026 OMIM ID 616687 MedGen ID 1800449 Orphanet ID 435387 SNOMED CT ID 1187565005

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	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DTT Molecule(s)

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

1	A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14.