Details of Disease | DrugMAP

General Information of Disease (ID: DISLU0Y0)

Disease Name	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Synonyms	CMT2 due to TFG mutation
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISZ4EN1: Hereditary motor and sensory neuropathy, Okinawa type DISLU0Y0: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Disease Identifiers	MONDO ID MONDO_0018567 UMLS CUI C5569028 MedGen ID 1800451 Orphanet ID 435819 SNOMED CT ID 1187566006

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
TFG	OT2KJENI	Supportive	Autosomal dominant	[1]
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References

1	A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. Neurology. 2014 Sep 2;83(10):903-12. doi: 10.1212/WNL.0000000000000758. Epub 2014 Aug 6.