MCID: SCN086
MIFTS: 9

Scn9a Neuropathic Pain Syndromes

Categories: Neuronal diseases

Aliases & Classifications for Scn9a Neuropathic Pain Syndromes

MalaCards integrated aliases for Scn9a Neuropathic Pain Syndromes:

Name: Scn9a Neuropathic Pain Syndromes 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance in families with scn9a erythromelalgia and paroxysmal extreme pain disorder reported to date is 100%; individuals with scn9a small fiber neuropathy show incomplete penetrance....

Classifications:



Summaries for Scn9a Neuropathic Pain Syndromes

MalaCards based summary : Scn9a Neuropathic Pain Syndromes is related to erythermalgia, primary and paroxysmal extreme pain disorder. An important gene associated with Scn9a Neuropathic Pain Syndromes is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9).

GeneReviews: NBK1163

Related Diseases for Scn9a Neuropathic Pain Syndromes

Diseases related to Scn9a Neuropathic Pain Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 10.2
2 paroxysmal extreme pain disorder 10.2
3 paine syndrome 10.2
4 severe cutaneous adverse reaction 10.2
5 erythema multiforme 10.2
6 erythromelalgia 10.2
7 syncope 10.2
8 sodium channelopathy-related small fiber neuropathy 10.2
9 erythema multiforme major 10.2
10 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.2

Graphical network of the top 20 diseases related to Scn9a Neuropathic Pain Syndromes:



Diseases related to Scn9a Neuropathic Pain Syndromes

Symptoms & Phenotypes for Scn9a Neuropathic Pain Syndromes

Drugs & Therapeutics for Scn9a Neuropathic Pain Syndromes

Search Clinical Trials , NIH Clinical Center for Scn9a Neuropathic Pain Syndromes

Genetic Tests for Scn9a Neuropathic Pain Syndromes

Anatomical Context for Scn9a Neuropathic Pain Syndromes

Publications for Scn9a Neuropathic Pain Syndromes

Articles related to Scn9a Neuropathic Pain Syndromes:

(show all 26)
# Title Authors PMID Year
1
Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics. 24
30702961 2019
2
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy. 24
30554136 2019
3
Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial. 24
30649227 2019
4
Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T. 24
28658526 2018
5
Associated conditions in small fiber neuropathy - a large cohort study and review of the literature. 24
29112785 2018
6
Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation. 24
29379075 2018
7
Current pain management strategies for patients with erythromelalgia: a critical review. 24
30214279 2018
8
The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes. 24
29029847 2017
9
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
10
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. 24
27088781 2016
11
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. 24
26920677 2016
12
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations. 24
25995458 2015
13
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels. 24
24866741 2014
14
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. 24
23596073 2013
15
The Na(V)1.7 sodium channel: from molecule to man. 24
23232607 2013
16
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 24
21698661 2012
17
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia. 24
20478850 2010
18
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. 24
19549232 2009
19
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 24
19557861 2009
20
Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off. 24
19162012 2009
21
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. 24
18060017 2007
22
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). 24
17679678 2007
23
An SCN9A channelopathy causes congenital inability to experience pain. 24
17167479 2006
24
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 24
16392115 2006
25
Development and preliminary validation of a pain measure specific to neuropathic pain: the Neuropathic Pain Scale. 24
9040716 1997
26
SCN9A Neuropathic Pain Syndromes 61
20301342 2006

Variations for Scn9a Neuropathic Pain Syndromes

Expression for Scn9a Neuropathic Pain Syndromes

Search GEO for disease gene expression data for Scn9a Neuropathic Pain Syndromes.

Pathways for Scn9a Neuropathic Pain Syndromes

GO Terms for Scn9a Neuropathic Pain Syndromes

Sources for Scn9a Neuropathic Pain Syndromes

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....