MCID: SLW005
MIFTS: 18

Slowed Nerve Conduction Velocity, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Slowed Nerve Conduction Velocity, Autosomal Dominant

MalaCards integrated aliases for Slowed Nerve Conduction Velocity, Autosomal Dominant:

Name: Slowed Nerve Conduction Velocity, Autosomal Dominant 57 29 6 73
Slowed Nerve Conduction Velocity, Ad 57 13
Sncv 57 75
Nerve Conduction Velocity, Slowed, Autosomal Dominant 40
Autosomal Dominant Slowed Nerve Conduction Velocity 59
Slowed Nerve Conduction Velocity 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant slowed nerve conduction velocity
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
usually clinically asymptomatic


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608236
Orphanet 59 ORPHA140481
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1842357
MedGen 42 C1842357
SNOMED-CT via HPO 69 263681008
UMLS 73 C1842357

Summaries for Slowed Nerve Conduction Velocity, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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, Autosomal Dominant, also known as slowed nerve conduction velocity, ad, is related to neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive and hypertrophic neuropathy of dejerine-sottas. An important gene associated with Slowed Nerve Conduction Velocity, Autosomal Dominant is ARHGEF10 (Rho Guanine Nucleotide Exchange Factor 10). Related phenotypes are decreased nerve conduction velocity and onion bulb formation

Description from OMIM: 608236

Related Diseases for Slowed Nerve Conduction Velocity, Autosomal Dominant

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

# Related Disease Score Top Affiliating Genes
1 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 11.2
2 hypertrophic neuropathy of dejerine-sottas 11.1
3 charcot-marie-tooth disease, demyelinating, type 1a 11.1
4 charcot-marie-tooth disease and deafness 11.1

Symptoms & Phenotypes for Slowed Nerve Conduction Velocity, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
slowed nerve conduction velocities (ncv)
nerve biopsy may show demyelination and remyelination
'onion bulb' formations (rare)


Clinical features from OMIM:

608236

Human phenotypes related to Slowed Nerve Conduction Velocity, Autosomal Dominant:

32
# 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, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Slowed Nerve Conduction Velocity, Autosomal Dominant

Genetic Tests for Slowed Nerve Conduction Velocity, Autosomal Dominant

Genetic tests related to Slowed Nerve Conduction Velocity, Autosomal Dominant:

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

Anatomical Context for Slowed Nerve Conduction Velocity, Autosomal Dominant

Publications for Slowed Nerve Conduction Velocity, Autosomal Dominant

Variations for Slowed Nerve Conduction Velocity, Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 ARHGEF10 p.Thr357Ile VAR_019118 rs28940281

ClinVar genetic disease variations for Slowed Nerve Conduction Velocity, Autosomal Dominant:

6
(show all 26)
# 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
2 ARHGEF10 NM_014629.3(ARHGEF10): c.995C> T (p.Thr332Ile) single nucleotide variant Pathogenic rs28940281 GRCh38 Chromosome 8, 1882669: 1882669
3 ARHGEF10 NM_014629.3(ARHGEF10): c.2063G> A (p.Ser688Asn) single nucleotide variant Uncertain significance rs143290224 GRCh37 Chromosome 8, 1857556: 1857556
4 ARHGEF10 NM_014629.3(ARHGEF10): c.2063G> A (p.Ser688Asn) single nucleotide variant Uncertain significance rs143290224 GRCh38 Chromosome 8, 1909390: 1909390
5 ARHGEF10 NM_014629.3(ARHGEF10): c.2098G> A (p.Val700Ile) single nucleotide variant Benign rs2294039 GRCh37 Chromosome 8, 1857591: 1857591
6 ARHGEF10 NM_014629.3(ARHGEF10): c.2098G> A (p.Val700Ile) single nucleotide variant Benign rs2294039 GRCh38 Chromosome 8, 1909425: 1909425
7 ARHGEF10 NM_014629.3(ARHGEF10): c.38-10T> C single nucleotide variant Benign/Likely benign rs138713415 GRCh37 Chromosome 8, 1806116: 1806116
8 ARHGEF10 NM_014629.3(ARHGEF10): c.38-10T> C single nucleotide variant Benign/Likely benign rs138713415 GRCh38 Chromosome 8, 1857950: 1857950
9 ARHGEF10 NM_014629.3(ARHGEF10): c.133C> T (p.Gln45Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 1858055: 1858055
10 ARHGEF10 NM_014629.3(ARHGEF10): c.133C> T (p.Gln45Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 1806221: 1806221
11 ARHGEF10 NM_014629.3(ARHGEF10): c.387A> G (p.Val129=) single nucleotide variant Benign rs749822 GRCh37 Chromosome 8, 1808256: 1808256
12 ARHGEF10 NM_014629.3(ARHGEF10): c.387A> G (p.Val129=) single nucleotide variant Benign rs749822 GRCh38 Chromosome 8, 1860090: 1860090
13 ARHGEF10 NM_014629.3(ARHGEF10): c.630G> A (p.Glu210=) single nucleotide variant Benign rs7003969 GRCh37 Chromosome 8, 1817367: 1817367
14 ARHGEF10 NM_014629.3(ARHGEF10): c.630G> A (p.Glu210=) single nucleotide variant Benign rs7003969 GRCh38 Chromosome 8, 1869201: 1869201
15 ARHGEF10 NM_014629.3(ARHGEF10): c.1075+13A> G single nucleotide variant Benign rs4543586 GRCh37 Chromosome 8, 1830928: 1830928
16 ARHGEF10 NM_014629.3(ARHGEF10): c.1075+13A> G single nucleotide variant Benign rs4543586 GRCh38 Chromosome 8, 1882762: 1882762
17 ARHGEF10 NM_014629.3(ARHGEF10): c.2143+13T> G single nucleotide variant Benign rs2294041 GRCh37 Chromosome 8, 1857649: 1857649
18 ARHGEF10 NM_014629.3(ARHGEF10): c.2143+13T> G single nucleotide variant Benign rs2294041 GRCh38 Chromosome 8, 1909483: 1909483
19 ARHGEF10 NM_014629.3(ARHGEF10): c.3398-16A> G single nucleotide variant Benign rs7832438 GRCh37 Chromosome 8, 1900855: 1900855
20 ARHGEF10 NM_014629.3(ARHGEF10): c.3398-16A> G single nucleotide variant Benign rs7832438 GRCh38 Chromosome 8, 1952689: 1952689
21 ARHGEF10 NM_014629.3(ARHGEF10): c.141A> C (p.Pro47=) single nucleotide variant Benign rs4875950 GRCh38 Chromosome 8, 1858063: 1858063
22 ARHGEF10 NM_014629.3(ARHGEF10): c.141A> C (p.Pro47=) single nucleotide variant Benign rs4875950 GRCh37 Chromosome 8, 1806229: 1806229
23 ARHGEF10 NM_001308153.1(ARHGEF10): c.2331+8T> C single nucleotide variant Likely benign rs1015159398 GRCh37 Chromosome 8, 1871253: 1871253
24 ARHGEF10 NM_001308153.1(ARHGEF10): c.2331+8T> C single nucleotide variant Likely benign rs1015159398 GRCh38 Chromosome 8, 1923087: 1923087
25 ARHGEF10 NM_001308153.1(ARHGEF10): c.2884G> A (p.Val962Ile) single nucleotide variant Likely benign rs61752020 GRCh37 Chromosome 8, 1876707: 1876707
26 ARHGEF10 NM_001308153.1(ARHGEF10): c.2884G> A (p.Val962Ile) single nucleotide variant Likely benign rs61752020 GRCh38 Chromosome 8, 1928541: 1928541

Expression for Slowed Nerve Conduction Velocity, Autosomal Dominant

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

Pathways for Slowed Nerve Conduction Velocity, Autosomal Dominant

GO Terms for Slowed Nerve Conduction Velocity, Autosomal Dominant

Sources for Slowed Nerve Conduction Velocity, Autosomal Dominant

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74 UMLS via Orphanet
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