Details of Disease | DrugMAP

General Information of Disease (ID: DISG03UJ)

Disease Name	Charcot-Marie-Tooth disease dominant intermediate C
Synonyms	Di-Cmtc; YARS-related intermediate Charcot-Marie-Tooth neuropathy; Charcot-Marie-Tooth disease, dominant intermediate C; Charcot-Marie-Tooth neuropathy, dominant Intermediate C; Charcot-Marie-Tooth neuropathy dominant intermediate C; Charcot-Marie-Tooth disease, dominant Intermediate type C; YARS Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease caused by mutation in YARS; CMTDIC; autosomal dominant intermediate Charcot-Marie-Tooth disease type C; DI-CMTC; Charcot-Marie-Tooth disease dominant intermediate type C
Definition	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.
Disease Hierarchy	DIS3BT2L: Charcot marie tooth disease DIS6XNC1: Autosomal dominant intermediate Charcot-Marie-Tooth disease DISG03UJ: Charcot-Marie-Tooth disease dominant intermediate C
Disease Identifiers	MONDO ID MONDO_0012012 MESH ID C564257 UMLS CUI C1842237 OMIM ID 608323 MedGen ID 334023 Orphanet ID 100045 SNOMED CT ID 765746008

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
YARS1	OTG81SGD	Strong	Autosomal dominant	[1]
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References

1	Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. doi: 10.1038/ng1727. Epub 2006 Jan 22.