Details of Disease | DrugMAP

General Information of Disease (ID: DISZWGPP)

Disease Name	Charcot-Marie-Tooth disease axonal type 2S
Synonyms	Charcot-Marie-Tooth neuropathy, type 2S; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S; Charcot-Marie-Tooth disease, axonal, type 2S; Charcot-Marie-Tooth neuropathy type 2S; IGHMBP2 Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2S; autosomal recessive axonal Charcot-Marie-Tooth type 2S; Charcot-Marie-Tooth disease caused by mutation in IGHMBP2; CMT2S
Definition	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3BT2L: Charcot marie tooth disease DISZWGPP: Charcot-Marie-Tooth disease axonal type 2S
Disease Identifiers	MONDO ID MONDO_0014511 UMLS CUI C4015349 OMIM ID 616155 MedGen ID 863786 Orphanet ID 443073 SNOMED CT ID 1187617004

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
IGHMBP2	OTAZFPF5	Definitive	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.