Details of Disease | DrugMAP

General Information of Disease (ID: DISQFY67)

Disease Name	Charcot-Marie-Tooth disease type 2R
Synonyms	Charcot-Marie-Tooth neuropathy, type 2R; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R; Charcot-Marie-Tooth disease, axonal, type 2R; Charcot-Marie-Tooth neuropathy type 2R; Charcot-Marie-Tooth disease, type 2R; autosomal recessive axonal Charcot-Marie-Tooth disease type 2R; Charcot-Marie-Tooth disease type 2R; Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2; TRIM2 Charcot-Marie-Tooth disease type 2; CMT2R
Definition	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISQFY67: Charcot-Marie-Tooth disease type 2R
Disease Identifiers	MONDO ID MONDO_0014208 UMLS CUI C3809655 OMIM ID 615490 MedGen ID 815985 Orphanet ID 397968 SNOMED CT ID 774147002

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
TRIM2	OT0V1YVC	Supportive	Autosomal recessive	[1]
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References

1	Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4.