MCID: SLW004
MIFTS: 20

Slowed Nerve Conduction Velocity, Ad malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Slowed Nerve Conduction Velocity, Ad

About this section

Aliases & Descriptions for Slowed Nerve Conduction Velocity, Ad:

Name: Slowed Nerve Conduction Velocity, Ad 51 12
Slowed Nerve Conduction Velocity, Autosomal Dominant 51 24 67
Autosomal Dominant Slowed Nerve Conduction Velocity 53 26
 
Slowed Nerve Conduction Velocity 69
Sncv 69

Characteristics:

Orphanet epidemiological data:

53
autosomal dominant slowed nerve conduction velocity:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy

HPO:

63
slowed nerve conduction velocity, ad:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM51 608236
Orphanet53 ORPHA140481
ICD10 via Orphanet30 G60.0
MedGen36 C1842357

Summaries for Slowed Nerve Conduction Velocity, Ad

About this section
UniProtKB/Swiss-Prot:69 Slowed nerve conduction velocity: Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant.

MalaCards based summary: Slowed Nerve Conduction Velocity, Ad, also known as slowed nerve conduction velocity, autosomal dominant, is related to neuropathy, congenital hypomyelinating and charcot-marie-tooth disease, type 1b, and has symptoms including decreased nerve conduction velocity, onion bulb formation and peripheral demyelination. An important gene associated with Slowed Nerve Conduction Velocity, Ad is ARHGEF10 (Rho Guanine Nucleotide Exchange Factor 10).

Description from OMIM:51 608236

Related Diseases for Slowed Nerve Conduction Velocity, Ad

About this section

Diseases related to Slowed Nerve Conduction Velocity, Ad via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1neuropathy, congenital hypomyelinating11.2
2charcot-marie-tooth disease, type 1b11.0
3dejerine-sottas disease11.0
4charcot-marie-tooth disease, type 1a11.0
5charcot-marie-tooth disease, type 1e11.0

Graphical network of diseases related to Slowed Nerve Conduction Velocity, Ad:



Diseases related to slowed nerve conduction velocity, ad

Symptoms for Slowed Nerve Conduction Velocity, Ad

About this section

Symptoms by clinical synopsis from OMIM:

608236

Clinical features from OMIM:

608236

Human phenotypes related to Slowed Nerve Conduction Velocity, Ad:

 63
id Description HPO Frequency HPO Source Accession
1 decreased nerve conduction velocity63 HP:0000762
2 onion bulb formation63 HP:0003383
3 peripheral demyelination63 HP:0011096

Drugs & Therapeutics for Slowed Nerve Conduction Velocity, Ad

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Slowed Nerve Conduction Velocity, Ad

Genetic Tests for Slowed Nerve Conduction Velocity, Ad

About this section

Genetic tests related to Slowed Nerve Conduction Velocity, Ad:

id Genetic test Affiliating Genes
1 Slowed Nerve Conduction Velocity, Autosomal Dominant26 24 ARHGEF10

Anatomical Context for Slowed Nerve Conduction Velocity, Ad

About this section

Animal Models for Slowed Nerve Conduction Velocity, Ad or affiliated genes

About this section

Publications for Slowed Nerve Conduction Velocity, Ad

About this section

Variations for Slowed Nerve Conduction Velocity, Ad

About this section

UniProtKB/Swiss-Prot genetic disease variations for Slowed Nerve Conduction Velocity, Ad:

69
id Symbol AA change Variation ID SNP ID
1ARHGEF10p.Thr357IleVAR_019118rs28940281

Clinvar genetic disease variations for Slowed Nerve Conduction Velocity, Ad:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ARHGEF10NM_014629.3(ARHGEF10): c.995C> T (p.Thr332Ile)SNVPathogenicrs28940281GRCh37Chr 8, 1830835: 1830835

Expression for genes affiliated with Slowed Nerve Conduction Velocity, Ad

About this section
Search GEO for disease gene expression data for Slowed Nerve Conduction Velocity, Ad.

Pathways for genes affiliated with Slowed Nerve Conduction Velocity, Ad

About this section

GO Terms for genes affiliated with Slowed Nerve Conduction Velocity, Ad

About this section

Sources for Slowed Nerve Conduction Velocity, Ad

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet