MCID: SLW004
MIFTS: 19

Slowed Nerve Conduction Velocity, Ad

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Slowed Nerve Conduction Velocity, Ad

MalaCards integrated aliases for Slowed Nerve Conduction Velocity, Ad:

Name: Slowed Nerve Conduction Velocity, Ad 54 13
Slowed Nerve Conduction Velocity, Autosomal Dominant 24 29 69
Autosomal Dominant Slowed Nerve Conduction Velocity 56
Slowed Nerve Conduction Velocity 71
Sncv 71

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant slowed nerve conduction velocity
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

54
Miscellaneous:
adult onset
usually clinically asymptomatic

Inheritance:
autosomal dominant


HPO:

32
slowed nerve conduction velocity, ad:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 608236
Orphanet 56 ORPHA140481
UMLS via Orphanet 70 C1842357
ICD10 via Orphanet 34 G60.0
MedGen 40 C1842357
SNOMED-CT via HPO 65 263681008

Summaries for Slowed Nerve Conduction Velocity, Ad

UniProtKB/Swiss-Prot : 71 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 dejerine-sottas disease, 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: 608236

Related Diseases for Slowed Nerve Conduction Velocity, Ad

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

id Related Disease Score Top Affiliating Genes
1 neuropathy, congenital hypomyelinating 11.1
2 dejerine-sottas disease 11.0
3 charcot-marie-tooth disease, type 1a 11.0
4 charcot-marie-tooth disease, type 1e 11.0

Symptoms & Phenotypes for Slowed Nerve Conduction Velocity, Ad

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
'onion bulb' formations (rare)
nerve biopsy may show demyelination and remyelination
slowed nerve conduction velocities (ncv)


Clinical features from OMIM:

608236

Human phenotypes related to Slowed Nerve Conduction Velocity, Ad:

32
id Description HPO Frequency HPO Source Accession
1 decreased nerve conduction velocity 32 HP:0000762
2 onion bulb formation 32 HP:0003383
3 peripheral demyelination 32 HP:0011096

Drugs & Therapeutics for Slowed Nerve Conduction Velocity, Ad

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

Genetic Tests for Slowed Nerve Conduction Velocity, Ad

Genetic tests related to Slowed Nerve Conduction Velocity, Ad:

id Genetic test Affiliating Genes
1 Slowed Nerve Conduction Velocity, Autosomal Dominant 29 24 ARHGEF10

Anatomical Context for Slowed Nerve Conduction Velocity, Ad

Publications for Slowed Nerve Conduction Velocity, Ad

Variations for Slowed Nerve Conduction Velocity, Ad

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

71
id Symbol AA change Variation ID SNP ID
1 ARHGEF10 p.Thr357Ile VAR_019118 rs28940281

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARHGEF10 NM_014629.3(ARHGEF10): c.995C> T (p.Thr332Ile) single nucleotide variant Pathogenic rs28940281 GRCh37 Chromosome 8, 1830835: 1830835

Expression for Slowed Nerve Conduction Velocity, Ad

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

Pathways for Slowed Nerve Conduction Velocity, Ad

GO Terms for Slowed Nerve Conduction Velocity, Ad

Sources for Slowed Nerve Conduction Velocity, Ad

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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