SNCV
MCID: SLW005
MIFTS: 32

Slowed Nerve Conduction Velocity, Autosomal Dominant (SNCV)

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 56 29 6 71
Slowed Nerve Conduction Velocity, Ad 56 13
Sncv 56 73
Nerve Conduction Velocity, Slowed, Autosomal Dominant 39
Autosomal Dominant Slowed Nerve Conduction Velocity 58
Slowed Nerve Conduction Velocity 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant slowed nerve conduction velocity
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
adult onset
usually clinically asymptomatic

Inheritance:
autosomal dominant


HPO:

31
slowed nerve conduction velocity, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 608236
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1842357
Orphanet 58 ORPHA140481
MedGen 41 C1842357
SNOMED-CT via HPO 68 263681008
UMLS 71 C1842357

Summaries for Slowed Nerve Conduction Velocity, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 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, 1, 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). The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include testes, dorsal root ganglion and bone, and related phenotypes are decreased nerve conduction velocity and peripheral demyelination

More information 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, 1, autosomal recessive 11.6
2 hypertrophic neuropathy of dejerine-sottas 11.5
3 charcot-marie-tooth disease, demyelinating, type 1a 11.4
4 charcot-marie-tooth disease and deafness 11.4
5 neuropathy, congenital hypomyelinating, 2 11.4
6 neuropathy, congenital hypomyelinating, 3 11.4
7 kidney disease 10.3
8 peripheral nervous system disease 10.0
9 neuropathy 10.0

Graphical network of the top 20 diseases related to Slowed Nerve Conduction Velocity, Autosomal Dominant:



Diseases related to Slowed Nerve Conduction Velocity, Autosomal Dominant

Symptoms & Phenotypes for Slowed Nerve Conduction Velocity, Autosomal Dominant

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

31
# Description HPO Frequency HPO Source Accession
1 decreased nerve conduction velocity 31 HP:0000762
2 peripheral demyelination 31 HP:0011096
3 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Slowed Nerve Conduction Velocity, Autosomal Dominant

Drugs for Slowed Nerve Conduction Velocity, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cutaneous Denervation in Alcoholic Neuropathy Unknown status NCT00190073
2 Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel Syndrome Completed NCT02217293

Search 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

MalaCards organs/tissues related to Slowed Nerve Conduction Velocity, Autosomal Dominant:

40
Testes, Dorsal Root Ganglion, Bone, Spinal Cord

Publications for Slowed Nerve Conduction Velocity, Autosomal Dominant

Articles related to Slowed Nerve Conduction Velocity, Autosomal Dominant:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. 56 6
14508709 2003
2
Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. 6 56
9678704 1998
3
Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10). 6
21719701 2011
4
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. 56
10520946 1999
5
Traditional Chinese medicine foot bath combined with acupoint massage for the treatment of diabetic peripheral neuropathy: A systematic review and meta-analysis of 31 RCTs. 61
31659861 2020
6
Curcumin Alleviates Oxaliplatin-Induced Peripheral Neuropathic Pain through Inhibiting Oxidative Stress-Mediated Activation of NF-κB and Mitigating Inflammation. 61
31776306 2020
7
Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience. 61
31861915 2019
8
Ultrasound-guided insulin injection for carpal tunnel syndrome in type 2 diabetes mellitus patients. 61
31209710 2019
9
miRNA-155 silencing reduces sciatic nerve injury in diabetic peripheral neuropathy. 61
31404910 2019
10
Protective effect of ibuprofen in a rat model of chronic oxaliplatin-induced peripheral neuropathy. 61
31388734 2019
11
Saponins of Tribulus terrestris attenuated neuropathic pain induced with vincristine through central and peripheral mechanism. 61
29938333 2019
12
Dexamethasone versus Hyaluronidase as an Adjuvant to Local Anesthetics in the Ultrasound-guided Hydrodissection of the Median Nerve for the Treatment of Carpal Tunnel Syndrome Patients. 61
31602055 2019
13
The Effectiveness of Ultrasound-Guided Steroid Injection Combined with Miniscalpel-Needle Release in the Treatment of Carpal Tunnel Syndrome vs. Steroid Injection Alone: A Randomized Controlled Study. 61
30915366 2019
14
[Relationship of BMI and wrist joint index with carpal tunnel syndrome in manual laborers]. 61
30884585 2019
15
The Method of Activating Blood and Dredging Collaterals for Reducing Chemotherapy-Induced Peripheral Neuropathy: A Systematic Review and Meta-Analysis. 61
31281395 2019
16
Prevalence of Diabetic Neuropathy in Young Adults with Type 1 Diabetes and the Association with Insulin Pump Therapy. 61
30461290 2018
17
Prostaglandin E1 plus methylcobalamin combination therapy versus prostaglandin E1 monotherapy for patients with diabetic peripheral neuropathy: A meta-analysis of randomized controlled trials. 61
30383660 2018
18
PVT1 protects diabetic peripheral neuropathy via PI3K/AKT pathway. 61
30402856 2018
19
The LDIFLARE and CCM Methods Demonstrate Early Nerve Fiber Abnormalities in Untreated Hypothyroidism: A Prospective Study. 61
29860452 2018
20
Fasudil combined with methylcobalamin or lipoic acid can improve the nerve conduction velocity in patients with diabetic peripheral neuropathy: A meta-analysis. 61
29979431 2018
21
Efficacy of epalrestat plus α-lipoic acid combination therapy versus monotherapy in patients with diabetic peripheral neuropathy: a meta-analysis of 20 randomized controlled trials. 61
29926837 2018
22
Lycium barbarum polysaccharide protects diabetic peripheral neuropathy by enhancing autophagy via mTOR/p70S6K inhibition in Streptozotocin-induced diabetic rats. 61
29294366 2018
23
Extracorporeal shockwave therapy versus exercise program in patients with low back pain: short-term results of a randomised controlled trial. 61
29685023 2018
24
Morin exerts neuroprotection via attenuation of ROS induced oxidative damage and neuroinflammation in experimental diabetic neuropathy. 61
29193444 2018
25
The clinical efficacy of epalrestat combined with α-lipoic acid in diabetic peripheral neuropathy: Protocol for a systematic review and meta-analysis. 61
29419686 2018
26
Efficacy and Safety of the Injection of the Traditional Chinese Medicine Puerarin for the Treatment of Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis of 53 Randomized Controlled Trials. 61
29619066 2018
27
The role of host cell organelles in the development of Simkania negevensis. 61
29089243 2018
28
Gentiopicroside Ameliorates Diabetic Peripheral Neuropathy by Modulating PPAR- Γ/AMPK/ACC Signaling Pathway. 61
30308492 2018
29
Alpha lipoic acid combined with epalrestat: a therapeutic option for patients with diabetic peripheral neuropathy. 61
30233145 2018
30
The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits. 61
30013503 2018
31
Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis. 61
29568686 2018
32
Pathophysiological profiles of SDT fatty rats, a potential new diabetic peripheral neuropathy model. 61
28970182 2017
33
Lipoic Acid Combined with Epalrestat versus Lipoic Acid in Treating Diabetic Peripheral Neuropathy:A Meta-analysis. 61
29125108 2017
34
Association Between Manual Loading and Newly Developed Carpal Tunnel Syndrome in Subjects With Physical Disabilities: A Follow-Up Study. 61
28286203 2017
35
Effects of taping therapy for carpal space expansion on electrophysiological change in patients with carpal tunnel syndrome. 61
28702450 2017
36
Efficacy of Combined Ultrasound-Guided Steroid Injection and Splinting in Patients With Carpal Tunnel Syndrome: A Randomized Controlled Trial. 61
28209506 2017
37
Adenosine Monophosphate-Activated Protein Kinase Abates Hyperglycaemia-Induced Neuronal Injury in Experimental Models of Diabetic Neuropathy: Effects on Mitochondrial Biogenesis, Autophagy and Neuroinflammation. 61
26957299 2017
38
Risk factors for autonomic and somatic nerve dysfunction in different stages of glucose tolerance. 61
27894750 2017
39
Reversible median nerve impairment after three weeks of repetitive work. 61
28060387 2017
40
Diabetic Neuropathy Evaluated by a Novel Device: Sural Nerve Conduction Is Associated with Glycemic Control and Ankle-Brachial Pressure Index in Japanese Patients with Diabetes. 61
28861044 2017
41
A Comparison of Screening Tools for the Early Detection of Peripheral Neuropathy in Adults with and without Type 2 Diabetes. 61
29250555 2017
42
MiR-106a Associated with Diabetic Peripheral Neuropathy Through the Regulation of 12/15-LOX-meidiated Oxidative/Nitrative Stress. 61
28393703 2017
43
Neuropathy in the spontaneously hypertensive rat: An electrophysiological and histological study. 61
26970072 2016
44
Quantitative assessment of chemotherapy-induced peripheral neurotoxicity using a point-of-care nerve conduction device. 61
27412083 2016
45
Nerve conduction velocity in CMT1A: what else can we tell? 61
27412484 2016
46
Efficacy and safety of prostaglandin E1 plus lipoic acid combination therapy versus monotherapy for patients with diabetic peripheral neuropathy. 61
26775115 2016
47
[Effect of Tanshinone IIA in Preventing and Treating Oxaliplatin Induced Peripheral Neuropathy]. 61
27386647 2016
48
[Acupuncture for distal symmetric multiple peripheral neuropathy of diabetes mellitus: a randomized controlled trial]. 61
27509606 2016
49
LncRNA NONRATT021972 siRNA regulates neuropathic pain behaviors in type 2 diabetic rats through the P2X7 receptor in dorsal root ganglia. 61
27107575 2016
50
Long-Acting C-Peptide and Neuropathy in Type 1 Diabetes: A 12-Month Clinical Trial. 61
26884473 2016

Variations for Slowed Nerve Conduction Velocity, Autosomal Dominant

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

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF10 NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile)SNV Pathogenic 2526 rs28940281 8:1830835-1830835 8:1882669-1882669
2 ARHGEF10 NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)SNV Uncertain significance 374306 rs143290224 8:1857556-1857556 8:1909390-1909390
3 ARHGEF10 NM_014629.4(ARHGEF10):c.1812C>A (p.Tyr604Ter)SNV Uncertain significance 812165 8:1851608-1851608 8:1903442-1903442
4 ARHGEF10 NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)SNV Uncertain significance 453261 rs1467438651 8:1806221-1806221 8:1858055-1858055
5 ARHGEF10 NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs)duplication Uncertain significance 634605 rs1563343679 8:1905357-1905358 8:1957191-1957192
6 ARHGEF10 NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys)SNV Uncertain significance 590923 rs1437730951 8:1851516-1851516 8:1903350-1903350
7 ARHGEF10 NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)SNV Uncertain significance 810896 8:1808270-1808270 8:1860104-1860104
8 ARHGEF10 NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met)SNV Likely benign 810874 8:1876804-1876804 8:1928638-1928638
9 ARHGEF10 NM_014629.4(ARHGEF10):c.2259+8T>CSNV Likely benign 522267 rs1015159398 8:1871253-1871253 8:1923087-1923087
10 ARHGEF10 NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile)SNV Likely benign 522268 rs61752020 8:1876707-1876707 8:1928541-1928541
11 ARHGEF10 NM_014629.4(ARHGEF10):c.38-10T>CSNV Benign/Likely benign 439416 rs138713415 8:1806116-1806116 8:1857950-1857950
12 ARHGEF10 NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile)SNV Benign 439414 rs2294039 8:1857591-1857591 8:1909425-1909425
13 ARHGEF10 NM_014629.4(ARHGEF10):c.387A>G (p.Val129=)SNV Benign 518388 rs749822 8:1808256-1808256 8:1860090-1860090
14 ARHGEF10 NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=)SNV Benign 518389 rs7003969 8:1817367-1817367 8:1869201-1869201
15 ARHGEF10 NM_014629.4(ARHGEF10):c.1075+13A>GSNV Benign 518390 rs4543586 8:1830928-1830928 8:1882762-1882762
16 ARHGEF10 NM_014629.4(ARHGEF10):c.2143+13T>GSNV Benign 518391 rs2294041 8:1857649-1857649 8:1909483-1909483
17 ARHGEF10 NM_014629.4(ARHGEF10):c.3398-16A>GSNV Benign 518392 rs7832438 8:1900855-1900855 8:1952689-1952689
18 ARHGEF10 NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=)SNV Benign 522266 rs4875950 8:1806229-1806229 8:1858063-1858063
19 ARHGEF10 NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)SNV Benign 618536 rs9657362 8:1833801-1833801 8:1885635-1885635
20 ARHGEF10 NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=)SNV Benign 618537 rs34655804 8:1833804-1833804 8:1885638-1885638
21 ARHGEF10 NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr)SNV Benign 792097 8:1857484-1857484 8:1909318-1909318
22 ARHGEF10 NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=)SNV Benign 726311 8:1808343-1808343 8:1860177-1860177
23 ARHGEF10 NM_014629.4(ARHGEF10):c.1260+4C>TSNV Benign 792096 8:1841816-1841816 8:1893650-1893650

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

73
# Symbol AA change Variation ID SNP ID
1 ARHGEF10 p.Thr357Ile VAR_019118 rs28940281

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....