Details of Disease | DrugMAP

General Information of Disease (ID: DIS8250C)

Disease Name	Charcot-Marie-Tooth disease axonal type 2K
Synonyms	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K; Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth neuropathy, axonal, type 2K; CMT2K; Charcot-Marie-Tooth disease, autosomal dominant, type 2K; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K; autosomal recessive Charcot-Marie-Tooth disease with hoarseness; autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth neuropathy axonal type 2K; autosomal recessive axonal CMT4C4; ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
Definition	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS8250C: Charcot-Marie-Tooth disease axonal type 2K
Disease Identifiers	MONDO ID MONDO_0011916 MESH ID C535418 UMLS CUI C1842983 OMIM ID 607831 MedGen ID 375064 Orphanet ID 101097 SNOMED CT ID 725047007

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
GDAP1	OTQE1O25	Strong	Autosomal dominant	[1]
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References

1	Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002 Jan;30(1):21-2. doi: 10.1038/ng796. Epub 2001 Dec 17.