Details of Disease | DrugMAP

General Information of Disease (ID: DISVY2DP)

Disease Name	Autosomal dominant Charcot-Marie-Tooth disease type 2W
Synonyms	Charcot-Marie-Tooth disease, axonal type 2W; Charcot-Marie-Tooth neuropathy, type 2W; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W; Charcot-Marie-Tooth disease, axonal, type 2W; CMT2W; Charcot-Marie-Tooth neuropathy type 2W; autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation; Charcot-Marie-Tooth disease type 2 caused by mutation in HARS; HARS Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease, axonal, type 2w; autosomal dominant axonal Charcot-Marie-Tooth disease type 2W
Definition	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISVY2DP: Autosomal dominant Charcot-Marie-Tooth disease type 2W
Disease Identifiers	MONDO ID MONDO_0014711 UMLS CUI C5567486 OMIM ID 616625 MedGen ID 1798909 Orphanet ID 488333 SNOMED CT ID 1172634009

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
HARS1	OTHOEOTS	Strong	Autosomal dominant	[1]
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References

1	Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13.