Details of Disease | DrugMAP

General Information of Disease (ID: DISJJR7T)

Disease Name	Autosomal dominant slowed nerve conduction velocity
Synonyms	slowed nerve conduction velocity, autosomal dominant; SNCV; autosomal dominant slowed nerve conduction velocity; slowed nerve conduction velocity, AD
Definition	Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
Disease Hierarchy	DISR0X2K: Hereditary motor and sensory neuropathy DISJJR7T: Autosomal dominant slowed nerve conduction velocity
Disease Identifiers	MONDO ID MONDO_0011998 MESH ID C564269 UMLS CUI C1842357 OMIM ID 608236 MedGen ID 330829 Orphanet ID 140481 SNOMED CT ID 764854006

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
ARHGEF10	OTHJ1Y4I	Supportive	Autosomal dominant	[1]
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References

1	Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. Am J Hum Genet. 2003 Oct;73(4):926-32. doi: 10.1086/378159. Epub 2003 Aug 19.