Autosomal dominant slowed nerve conduction velocity

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 140481
OMIM Id: 608236
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant hereditary demyelinating motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003383) Onion bulb formation 30 / 7739
2
(HPO:0011096) Peripheral demyelination 28 / 7739
3
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Nerve biopsy may show demyelination and remyelination 1 / 7739
6
(HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nelis et al. (1998) reported a family with what they described as autosomal dominant 'Charcot-Marie-Tooth disease type 1' (CMT1; see 118200). At age 41 years, the proband had bilateral pes cavus, mild weakness of the peroneal muscles, distal ...
Molecular genetics OMIM In the family with slowed NCV described by Nelis et al. (1998), Verhoeven et al. (2003) identified a heterozygous mutation in the ARHGEF10 gene (608136.0001) that segregated with the phenotype.