Details of Disease | DrugMAP

General Information of Disease (ID: DIS8DMHE)

Disease Name	Autosomal dominant Charcot-Marie-Tooth disease type 2K
Synonyms	Charcot-Marie-Tooth disease type 2K; CMT2K
Definition	Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS8DMHE: Autosomal dominant Charcot-Marie-Tooth disease type 2K
Disease Identifiers	MONDO ID MONDO_0020558 MESH ID C564325 UMLS CUI C1842984 MedGen ID 334294 Orphanet ID 99944 SNOMED CT ID 719512003

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	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Charcot-Marie-Tooth Neuropathy Type 2 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.