Details of Disease | DrugMAP

General Information of Disease (ID: DISRCJLT)

Disease Name	Charcot-Marie-Tooth disease axonal type 2U
Synonyms	Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U; Charcot-Marie-Tooth disease, axonal, type 2U; Charcot-Marie-Tooth neuropathy, type 2U; CMT2U; autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation; MARS Charcot-Marie-Tooth disease type 2; autosomal dominant Charcot-Marie-Tooth disease type 2U; autosomal dominant axonal Charcot-Marie-Tooth disease type 2U; Charcot-Marie-Tooth disease type 2 caused by mutation in MARS; Charcot-Marie-Tooth neuropathy type 2U
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISRCJLT: Charcot-Marie-Tooth disease axonal type 2U
Disease Identifiers	MONDO ID MONDO_0014566 UMLS CUI C4084821 OMIM ID 616280 MedGen ID 906504 Orphanet ID 397735 SNOMED CT ID 765046002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MARS1	DE0K52I	Limited	Genetic Variation	[1]
MARS1	DE0K52I	Strong	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLA2	OTNVE666	moderate	Genetic Variation	[1]
MARS1	OTLJ6MHJ	Strong	Autosomal dominant	[2]
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References

1	Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.J Peripher Nerv Syst. 2018 Jun;23(2):138-142. doi: 10.1111/jns.12264. Epub 2018 May 9.
2	Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1.