Details of Disease | DrugMAP

General Information of Disease (ID: DISPWCA1)

Disease Name	Charcot-Marie-Tooth disease axonal type 2Z
Synonyms	Charcot-Marie-Tooth disease, axonal, type 2Z; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z; autosomal dominant Charcot-Marie-Tooth disease type 2Z; Charcot-Marie-Tooth neuropathy, type 2Z; Charcot-Marie-Tooth disease caused by mutation in MORC2; MORC2 Charcot-Marie-Tooth disease; Charcot-Marie-Tooth neuropathy type 2Z; autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z; Charcot-Marie-Tooth disease, axonal, type 2z; CMT2Z
Definition	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3BT2L: Charcot marie tooth disease DISPWCA1: Charcot-Marie-Tooth disease axonal type 2Z
Disease Identifiers	MONDO ID MONDO_0014736 UMLS CUI C5569025 OMIM ID 616688 MedGen ID 1800448 Orphanet ID 466768 SNOMED CT ID 1187564009

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
MORC2	OT52A8BJ	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.