SNCV
MCID: SLW004
MIFTS: 20

Slowed Nerve Conduction Velocity, Ad (SNCV) 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 52 12
Slowed Nerve Conduction Velocity, Autosomal Dominant 52 24 68
Autosomal Dominant Slowed Nerve Conduction Velocity 54 27
 
Slowed Nerve Conduction Velocity 70
Sncv 70

Characteristics:

Orphanet epidemiological data:

54
autosomal dominant slowed nerve conduction velocity:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy

HPO:

64
slowed nerve conduction velocity, ad:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 608236
Orphanet54 ORPHA140481
ICD10 via Orphanet31 G60.0
MedGen37 C1842357

Summaries for Slowed Nerve Conduction Velocity, Ad

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UniProtKB/Swiss-Prot:70 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:52 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 hypomyelinating11.1
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 & Phenotypes for Slowed Nerve Conduction Velocity, Ad

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Symptoms by clinical synopsis from OMIM:

608236

Clinical features from OMIM:

608236

Human phenotypes related to Slowed Nerve Conduction Velocity, Ad:

 64
id Description HPO Frequency HPO Source Accession
1 decreased nerve conduction velocity64 HP:0000762
2 onion bulb formation64 HP:0003383
3 peripheral demyelination64 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 Dominant27 24 ARHGEF10

Anatomical Context for Slowed Nerve Conduction Velocity, Ad

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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:

70
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

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet