MCID: SCN010
MIFTS: 10

Scn9a-Related Inherited Erythromelalgia

Aliases & Classifications for Scn9a-Related Inherited Erythromelalgia

MalaCards integrated aliases for Scn9a-Related Inherited Erythromelalgia:

Name: Scn9a-Related Inherited Erythromelalgia 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance in families with scn9a-related iem reported to date is 100%; however, molecular genetic data are available for fewer than 30 families.

Summaries for Scn9a-Related Inherited Erythromelalgia

MalaCards based summary : Scn9a-Related Inherited Erythromelalgia is related to erythermalgia, primary and erythromelalgia. An important gene associated with Scn9a-Related Inherited Erythromelalgia is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9). Affiliated tissues include skin, endothelial and dorsal root ganglion.

GeneReviews: NBK1163

Related Diseases for Scn9a-Related Inherited Erythromelalgia

Diseases related to Scn9a-Related Inherited Erythromelalgia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 10.4
2 erythromelalgia 10.4
3 sodium channelopathy-related small fiber neuropathy 10.4

Symptoms & Phenotypes for Scn9a-Related Inherited Erythromelalgia

Drugs & Therapeutics for Scn9a-Related Inherited Erythromelalgia

Search Clinical Trials , NIH Clinical Center for Scn9a-Related Inherited Erythromelalgia

Genetic Tests for Scn9a-Related Inherited Erythromelalgia

Anatomical Context for Scn9a-Related Inherited Erythromelalgia

MalaCards organs/tissues related to Scn9a-Related Inherited Erythromelalgia:

41
Skin, Endothelial, Dorsal Root Ganglion

Publications for Scn9a-Related Inherited Erythromelalgia

Articles related to Scn9a-Related Inherited Erythromelalgia:

(show top 50) (show all 71)
# Title Authors PMID Year
1
A new Nav1.7 mutation in an erythromelalgia patient. 4
23376079 2013
2
The Na(V)1.7 sodium channel: from molecule to man. 4
23232607 2013
3
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 4
21698661 2012
4
Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker. 4
22035805 2012
5
A new Nav1.7 sodium channel mutation I234T in a child with severe pain. 4
20385509 2010
6
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia. 4
20478850 2010
7
Sodium channels in normal and pathological pain. 4
20367448 2010
8
Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. 4
19549232 2009
9
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 4
19763161 2009
10
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. 4
19369487 2009
11
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 4
19557861 2009
12
Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off. 4
19162012 2009
13
Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia. 4
18518989 2008
14
Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A. 4
18347287 2008
15
Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade. 4
18171466 2008
16
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. 4
18060017 2007
17
From genes to pain: Na v 1.7 and human pain disorders. 4
17950472 2007
18
A stop codon mutation in SCN9A causes lack of pain sensation. 4
17597096 2007
19
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). 4
17679678 2007
20
A case of primary erythermalgia, wintry hypothermia and encephalopathy. 4
17985268 2007
21
A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity. 4
17430993 2007
22
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 4
17470132 2007
23
Characterization of a familial case with primary erythromelalgia from Taiwan. 4
17294067 2007
24
An SCN9A channelopathy causes congenital inability to experience pain. 4
17167479 2006
25
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 4
17145499 2006
26
Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons. 4
17135418 2006
27
What's in a name--familial rectal pain syndrome becomes paroxysmal extreme pain disorder. 4
17043302 2006
28
Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. 4
16988069 2006
29
Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating. 4
17008310 2006
30
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. 4
16702558 2006
31
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 4
16392115 2006
32
Combination gel of 1% amitriptyline and 0.5% ketamine to treat refractory erythromelalgia pain: a new treatment option? 4
16549702 2006
33
Erythermalgia: molecular basis for an inherited pain syndrome. 4
16278094 2005
34
Lidocaine patch for pain of erythromelalgia: follow-up of 34 patients. 4
16230578 2005
35
Thalamic stimulation as a treatment for primary erythromelalgia: technical case report. 4
16234658 2005
36
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. 4
16216943 2005
37
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. 4
15958509 2005
38
Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia. 4
16029345 2005
39
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. 4
15955112 2005
40
Erythromelalgia: a hereditary pain syndrome enters the molecular era. 4
15929046 2005
41
Primary erythromelalgia in a child responding to intravenous lidocaine and oral mexiletine treatment. 4
15741349 2005
42
Syndromic diagnosis and management of confirmed mushroom poisonings. 4
15699849 2005
43
Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia. 4
15302875 2004
44
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. 4
15385606 2004
45
Pain in primary erythromelalgia--a neuropathic component? 4
15288393 2004
46
Alleviation of erythromelalgia with venlafaxine. 4
15148116 2004
47
The prostaglandin E1 analog misoprostol reduces symptoms and microvascular arteriovenous shunting in erythromelalgia-a double-blind, crossover, placebo-compared study. 4
15086539 2004
48
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 4
14985375 2004
49
Erythromelalgia: vasculopathy, neuropathy, or both? A prospective study of vascular and neurophysiologic studies in erythromelalgia. 4
14568838 2003
50
Treatment of primary erythromelalgia with cyclosporine. 4
12930941 2003

Variations for Scn9a-Related Inherited Erythromelalgia

Expression for Scn9a-Related Inherited Erythromelalgia

Search GEO for disease gene expression data for Scn9a-Related Inherited Erythromelalgia.

Pathways for Scn9a-Related Inherited Erythromelalgia

GO Terms for Scn9a-Related Inherited Erythromelalgia

Sources for Scn9a-Related Inherited Erythromelalgia

3 CDC
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9 Cosmic
10 dbSNP
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17 EFO
18 ExPASy
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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