Details of Disease | DrugMAP

General Information of Disease (ID: DISC7AJY)

Disease Name	Charcot-Marie-Tooth disease type 2D
Synonyms	Charcot-Marie-Tooth neuropathy, type 2D; Charcot-Marie-Tooth disease, neuronal, type 2D; Charcot-Marie-Tooth disease, axonal, type 2D; Charcot Marie Tooth disease type 2D; CMT 2D; CMT2D; Charcot-Marie-Tooth neuropathy type 2D; Charcot-Marie-Tooth disease neuronal type 2D; autosomal dominant Charcot-Marie-Tooth disease type 2D; GARS Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2 caused by mutation in GARS; Charcot-Marie-Tooth disease, type 2D
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISC7AJY: Charcot-Marie-Tooth disease type 2D
Disease Identifiers	MONDO ID MONDO_0011091 MESH ID C537993 UMLS CUI C1832274 OMIM ID 601472 MedGen ID 316946 Orphanet ID 99938 SNOMED CT ID 717011006

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
GART	TTEXB9Z	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GARS1	OT5B6R9Y	Definitive	Autosomal dominant	[2]
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References

1	A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.Mol Genet Genomic Med. 2019 Jul;7(7):e00782. doi: 10.1002/mgg3.782. Epub 2019 Jun 7.
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.