Details of Disease

General Information of Disease (ID: DISP2EEU)

Disease Name Charcot-Marie-Tooth disease, axonal, type 2FF
Synonyms CMT2FF; Charcot-Marie-Tooth neuropathy
Disease Hierarchy
DIS3BT2L: Charcot marie tooth disease
DISP2EEU: Charcot-Marie-Tooth disease, axonal, type 2FF
Disease Identifiers
MONDO ID
MONDO_0030433
UMLS CUI
C5561981
OMIM ID
619519
MedGen ID
1794191

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
CADM3 OTSGOMWB Strong Autosomal dominant [1]
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References

1 A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain. 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019.