Details of Disease | DrugMAP

General Information of Disease (ID: DISMD18Z)

Disease Name	Charcot-Marie-Tooth disease axonal type 2V
Synonyms	Charcot-Marie-Tooth disease, axonal, type 2V; Charcot-Marie-Tooth neuropathy, type 2V; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V; Charcot-Marie-Tooth disease caused by mutation in NAGLU; NAGLU Charcot-Marie-Tooth disease; Charcot-Marie-Tooth neuropathy type 2V; autosomal dominant axonal Charcot-Marie-Tooth disease type 2V; autosomal dominant Charcot-Marie-Tooth disease type 2V; hereditary adult-onset painful axonal polyneuropathy; CMT2V; autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
Definition	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3BT2L: Charcot marie tooth disease DISMD18Z: Charcot-Marie-Tooth disease axonal type 2V
Disease Identifiers	MONDO ID MONDO_0014665 UMLS CUI C5569050 OMIM ID 616491 MedGen ID 1800473 Orphanet ID 447964 SNOMED CT ID 1187618009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NAGLU	DELOWRJ	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NAGLU	OTM0709Q	Supportive	Autosomal dominant	[1]
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References

1	Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain. 2015 Jun;138(Pt 6):1477-83. doi: 10.1093/brain/awv074. Epub 2015 Mar 28.