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

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Aliases & Descriptions for Slowed Nerve Conduction Velocity, Ad:

Name: Slowed Nerve Conduction Velocity, Ad 50 12
Slowed Nerve Conduction Velocity, Autosomal Dominant 50 23 66
Autosomal Dominant Slowed Nerve Conduction Velocity 52 25
 
Slowed Nerve Conduction Velocity 68
Sncv 68

Characteristics:

Orphanet epidemiological data:

52
autosomal dominant slowed nerve conduction velocity:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy

HPO:

62
slowed nerve conduction velocity, ad:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 608236
Orphanet52 ORPHA140481
ICD10 via Orphanet29 G60.0
MedGen35 C1842357

Summaries for Slowed Nerve Conduction Velocity, Ad

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UniProtKB/Swiss-Prot:68 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:50 608236

Related Diseases for Slowed Nerve Conduction Velocity, Ad

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

idRelated DiseaseScoreTop Affiliating Genes
1neuropathy, congenital hypomyelinating10.3
2charcot-marie-tooth disease, type 1b10.1
3dejerine-sottas disease10.1
4charcot-marie-tooth disease, type 1a10.1

Symptoms for Slowed Nerve Conduction Velocity, Ad

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Symptoms by clinical synopsis from OMIM:

608236

Clinical features from OMIM:

608236

HPO human phenotypes related to Slowed Nerve Conduction Velocity, Ad:

id Description Frequency HPO Source Accession
1 decreased nerve conduction velocity HP:0000762
2 onion bulb formation HP:0003383
3 peripheral demyelination HP:0011096

Drugs & Therapeutics for Slowed Nerve Conduction Velocity, Ad

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Interventional clinical trials:

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

Genetic Tests for Slowed Nerve Conduction Velocity, Ad

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Genetic tests related to Slowed Nerve Conduction Velocity, Ad:

id Genetic test Affiliating Genes
1 Slowed Nerve Conduction Velocity, Autosomal Dominant25 23 ARHGEF10

Anatomical Context for Slowed Nerve Conduction Velocity, Ad

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

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Publications for Slowed Nerve Conduction Velocity, Ad

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Variations for Slowed Nerve Conduction Velocity, Ad

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

68
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)single nucleotide variantPathogenicrs28940281GRCh37Chr 8, 1830835: 1830835

Expression for genes affiliated with Slowed Nerve Conduction Velocity, Ad

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

Pathways for genes affiliated with Slowed Nerve Conduction Velocity, Ad

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

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Sources for Slowed Nerve Conduction Velocity, Ad

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet