Details of Disease | DrugMAP

General Information of Disease (ID: DISK9FMS)

Disease Name	Charcot-Marie-Tooth disease axonal type 2CC
Synonyms	Charcot-Marie-Tooth neuropathy, type 2Cc; Charcot-Marie-Tooth disease, axonal, type 2CC; Charcot-Marie-Tooth disease caused by mutation in NEFH; Charcot-Marie-Tooth neuropathy type 2CC; Charcot-Marie-Tooth disease axonal type 2CC; Charcot-Marie-Tooth disease, axonal, type 2cc; NEFH Charcot-Marie-Tooth disease; CMT2CC
Definition	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3BT2L: Charcot marie tooth disease DISK9FMS: Charcot-Marie-Tooth disease axonal type 2CC
Disease Identifiers	MONDO ID MONDO_0014836 UMLS CUI C4310790 OMIM ID 616924 MedGen ID 934757

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
NEFH	OTMSCW5I	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.