Details of Disease

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]
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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1 Charcot-Marie-Tooth Neuropathy Type 2 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 24 [updated 2016 Apr 14].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.