Details of Disease | DrugMAP

General Information of Disease (ID: DIS8BG8Q)

Disease Name	Charcot-Marie-Tooth disease axonal type 2N
Synonyms	Charcot-Marie-Tooth disease, axonal, type 2N; Charcot-Marie-Tooth neuropathy, axonal, type 2N; Charcot-Marie-Tooth disease type 2N; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N; autosomal dominant Charcot-Marie-Tooth disease type 2N; autosomal dominant axonal Charcot-Marie-Tooth disease type 2N; AARS Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2 caused by mutation in AARS; CMT2N; Charcot-Marie-Tooth neuropathy axonal type 2N
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS8BG8Q: Charcot-Marie-Tooth disease axonal type 2N
Disease Identifiers	MONDO ID MONDO_0013212 MESH ID C567653 UMLS CUI C2750090 OMIM ID 613287 MedGen ID 413754 Orphanet ID 228174 SNOMED CT ID 719515001

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
AARS1	OTW8D813	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.