Details of Disease | DrugMAP

General Information of Disease (ID: DISJU9TL)

Disease Name	Charcot-Marie-Tooth disease axonal type 2T
Synonyms	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T; AR-CMT2T; Charcot-Marie-Tooth neuropathy, type 2T; DNAJB2-related Charcot-Marie-Tooth disease type 2; autosomal recessive axonal Charcot-Marie-Tooth disease type 2T; Charcot-Marie-Tooth disease, axonal, type 2T; Charcot-Marie-Tooth neuropathy type 2T; CMT2T; DNAJB2-related CMT2
Definition	A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3BT2L: Charcot marie tooth disease DISJU9TL: Charcot-Marie-Tooth disease axonal type 2T
Disease Identifiers	MONDO ID MONDO_0014866 UMLS CUI C4015635 OMIM ID 617017 MedGen ID 864072 Orphanet ID 443950 SNOMED CT ID 1187128001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MME	TT5TKPM	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MME	DEVN830	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAJB2	OTZHPV5M	Definitive	Autosomal recessive	[2]
MME	OT5Q39P8	Definitive	Autosomal recessive	[2]
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References

1	Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17.
2	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.