MCID: SDM003
MIFTS: 27

Sodium Channelopathy-Related Small Fiber Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Sodium Channelopathy-Related Small Fiber Neuropathy

MalaCards integrated aliases for Sodium Channelopathy-Related Small Fiber Neuropathy:

Name: Sodium Channelopathy-Related Small Fiber Neuropathy 58 6

Characteristics:

Orphanet epidemiological data:

58
sodium channelopathy-related small fiber neuropathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA306577

Summaries for Sodium Channelopathy-Related Small Fiber Neuropathy

MalaCards based summary : Sodium Channelopathy-Related Small Fiber Neuropathy is related to pain agnosia and generalized epilepsy with febrile seizures plus, type 2. An important gene associated with Sodium Channelopathy-Related Small Fiber Neuropathy is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

Related Diseases for Sodium Channelopathy-Related Small Fiber Neuropathy

Diseases related to Sodium Channelopathy-Related Small Fiber Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 pain agnosia 9.9 SCN9A SCN10A
2 generalized epilepsy with febrile seizures plus, type 2 9.9 SCN9A SCN11A
3 agnosia 9.9 SCN9A SCN10A
4 hereditary sensory neuropathy 9.9 SCN9A RAB7A
5 febrile seizures 9.8 SCN9A SCN1A-AS1
6 febrile seizures, familial, 1 9.7 SCN9A SCN1A-AS1
7 causalgia 9.7 SCN9A SCN11A SCN10A
8 episodic pain syndrome, familial, 2 9.7 SCN9A SCN11A SCN10A
9 episodic pain syndrome, familial, 3 9.7 SCN9A SCN11A SCN10A
10 generalized epilepsy with febrile seizures plus, type 7 9.7 SCN9A SCN1A-AS1
11 trigeminal nerve disease 9.7 SCN9A SCN11A SCN10A
12 trigeminal neuralgia 9.7 SCN9A SCN11A SCN10A
13 autonomic nervous system disease 9.7 SCN9A SCN11A SCN10A
14 familial episodic pain syndrome 9.7 SCN9A SCN11A SCN10A
15 somatoform disorder 9.7 SCN9A SCN11A SCN10A
16 sensory peripheral neuropathy 9.7 SCN9A SCN11A
17 paine syndrome 9.7 SCN9A SCN11A SCN10A
18 migraine with or without aura 1 9.6 SCN9A SCN11A SCN10A
19 early infantile epileptic encephalopathy 9.6 SCN9A SCN11A SCN10A
20 brugada syndrome 9.6 SCN9A SCN11A SCN10A
21 familial febrile seizures 9.6 SCN9A SCN1A-AS1
22 autonomic neuropathy 9.6 SCN9A SCN11A
23 neuropathy, hereditary sensory and autonomic, type iia 9.5 SCN9A SCN1A-AS1 RAB7A
24 peripheral nervous system disease 9.5 SCN9A SCN11A SCN10A RAB7A
25 tooth disease 9.5 SEPTIN9 SCN9A SCN11A RAB7A
26 indifference to pain, congenital, autosomal recessive 9.3 SCN9A SCN1A-AS1 SCN11A SCN10A
27 erythermalgia, primary 9.3 SCN9A SCN1A-AS1 SCN11A SCN10A
28 erythromelalgia 9.3 SCN9A SCN1A-AS1 SCN11A SCN10A
29 paroxysmal extreme pain disorder 9.3 SCN9A SCN1A-AS1 SCN11A SCN10A
30 generalized epilepsy with febrile seizures plus 9.3 SCN9A SCN1A-AS1 SCN11A SCN10A
31 dravet syndrome 9.3 SCN9A SCN1A-AS1 SCN11A SCN10A
32 neuropathy 8.8 SEPTIN9 SCN9A SCN1A-AS1 SCN11A SCN10A RAB7A
33 charcot-marie-tooth disease 8.8 SEPTIN9 SCN9A SCN1A-AS1 SCN11A RAB7A LOC112872299

Graphical network of the top 20 diseases related to Sodium Channelopathy-Related Small Fiber Neuropathy:



Diseases related to Sodium Channelopathy-Related Small Fiber Neuropathy

Symptoms & Phenotypes for Sodium Channelopathy-Related Small Fiber Neuropathy

Drugs & Therapeutics for Sodium Channelopathy-Related Small Fiber Neuropathy

Search Clinical Trials , NIH Clinical Center for Sodium Channelopathy-Related Small Fiber Neuropathy

Genetic Tests for Sodium Channelopathy-Related Small Fiber Neuropathy

Anatomical Context for Sodium Channelopathy-Related Small Fiber Neuropathy

Publications for Sodium Channelopathy-Related Small Fiber Neuropathy

Articles related to Sodium Channelopathy-Related Small Fiber Neuropathy:

(show all 20)
# Title Authors PMID Year
1
Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics. 6
30702961 2019
2
Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T. 6
28658526 2018
3
Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation. 6
29379075 2018
4
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
5
Gain-of-function Nav1.8 mutations in painful neuropathy. 6
23115331 2012
6
Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker. 6
22035805 2012
7
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 6
21698661 2012
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. 6
19549232 2009
9
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. 6
19369487 2009
10
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 6
19557861 2009
11
Inherited erythermalgia moves a sodium channel into focus. 6
17101882 2006
12
Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. 6
16988069 2006
13
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. 6
16702558 2006
14
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 6
16392115 2006
15
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. 6
16216943 2005
16
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. 6
15958509 2005
17
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. 6
15955112 2005
18
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. 6
15385606 2004
19
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 6
14985375 2004
20
Autosomal dominant erythromelalgia. 6
1536168 1992

Variations for Sodium Channelopathy-Related Small Fiber Neuropathy

ClinVar genetic disease variations for Sodium Channelopathy-Related Small Fiber Neuropathy:

6 (show top 50) (show all 245)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) SNV Pathogenic 6352 rs80356478 GRCh37: 2:167083097-167083097
GRCh38: 2:166226587-166226587
2 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) SNV Pathogenic 6364 rs80356476 GRCh37: 2:167133762-167133762
GRCh38: 2:166277252-166277252
3 SCN9A NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser) SNV Pathogenic 6365 rs80356469 GRCh37: 2:167160789-167160789
GRCh38: 2:166304279-166304279
4 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys) SNV Pathogenic 21343 rs80356471 GRCh37: 2:167145076-167145076
GRCh38: 2:166288566-166288566
5 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg) SNV Pathogenic 21345 rs80356473 GRCh37: 2:167134666-167134666
GRCh38: 2:166278156-166278156
6 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro) SNV Pathogenic 21346 rs80356477 GRCh37: 2:167133747-167133747
GRCh38: 2:166277237-166277237
7 SCN9A NM_001365536.1(SCN9A):c.406A>G (p.Ile136Val) SNV Pathogenic 21348 rs80356468 GRCh37: 2:167163081-167163081
GRCh38: 2:166306571-166306571
8 SCN9A NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr) SNV Pathogenic 915877 GRCh37: 2:167159800-167159800
GRCh38: 2:166303290-166303290
9 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) SNV Pathogenic 6349 rs80356475 GRCh37: 2:167133761-167133761
GRCh38: 2:166277251-166277251
10 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) SNV Pathogenic 6350 rs80356474 GRCh37: 2:167133791-167133791
GRCh38: 2:166277281-166277281
11 SCN10A NM_006514.3(SCN10A):c.1661T>C (p.Leu554Pro) SNV Pathogenic 89014 rs138404783 GRCh37: 3:38793804-38793804
GRCh38: 3:38752313-38752313
12 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) SNV Pathogenic 538468 rs1553491169 GRCh37: 2:167145063-167145063
GRCh38: 2:166288553-166288553
13 SCN10A NM_006514.3(SCN10A):c.3910G>A (p.Ala1304Thr) SNV Pathogenic 89015 rs142173735 GRCh37: 3:38753831-38753831
GRCh38: 3:38712340-38712340
14 SCN10A NM_006514.3(SCN10A):c.5548C>T (p.Gln1850Ter) SNV Pathogenic 430247 rs149504103 GRCh37: 3:38739163-38739163
GRCh38: 3:38697672-38697672
15 SCN9A NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter) SNV Likely pathogenic 1028064 GRCh37: 2:167159600-167159600
GRCh38: 2:166303090-166303090
16 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) SNV Conflicting interpretations of pathogenicity 94090 rs4369876 GRCh37: 2:167129256-167129256
GRCh38: 2:166272746-166272746
17 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) SNV Conflicting interpretations of pathogenicity 30357 rs200945460 GRCh37: 2:167137018-167137018
GRCh38: 2:166280508-166280508
18 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) SNV Conflicting interpretations of pathogenicity 130265 rs141268327 GRCh37: 2:167094638-167094638
GRCh38: 2:166238128-166238128
19 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) SNV Conflicting interpretations of pathogenicity 548618 rs763256222 GRCh37: 2:167144976-167144976
GRCh38: 2:166288466-166288466
20 SCN9A NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) SNV Conflicting interpretations of pathogenicity 6351 rs80356470 GRCh37: 2:167159780-167159780
GRCh38: 2:166303270-166303270
21 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*2986T>G SNV Uncertain significance 331900 rs201730339 GRCh37: 2:167052196-167052196
GRCh38: 2:166195686-166195686
22 SCN9A NM_001365536.1(SCN9A):c.-126G>C SNV Uncertain significance 332002 rs200099565 GRCh37: 2:167232282-167232282
GRCh38: 2:166375772-166375772
23 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) SNV Uncertain significance 331996 rs886055056 GRCh37: 2:167149834-167149834
GRCh38: 2:166293324-166293324
24 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*948G>A SNV Uncertain significance 331940 rs201415802 GRCh37: 2:167054234-167054234
GRCh38: 2:166197724-166197724
25 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) SNV Uncertain significance 331994 rs188798505 GRCh37: 2:167145122-167145122
GRCh38: 2:166288612-166288612
26 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*1605T>C SNV Uncertain significance 331931 rs199848927 GRCh37: 2:167053577-167053577
GRCh38: 2:166197067-166197067
27 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) SNV Uncertain significance 331987 rs200876333 GRCh37: 2:167141224-167141224
GRCh38: 2:166284714-166284714
28 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*2222T>C SNV Uncertain significance 331916 rs199958892 GRCh37: 2:167052960-167052960
GRCh38: 2:166196450-166196450
29 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*1357C>T SNV Uncertain significance 331934 rs200338267 GRCh37: 2:167053825-167053825
GRCh38: 2:166197315-166197315
30 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*2078C>T SNV Uncertain significance 331923 rs548072061 GRCh37: 2:167053104-167053104
GRCh38: 2:166196594-166196594
31 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) SNV Uncertain significance 331973 rs886055053 GRCh37: 2:167128995-167128995
GRCh38: 2:166272485-166272485
32 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*669A>G SNV Uncertain significance 331945 rs538508619 GRCh37: 2:167054513-167054513
GRCh38: 2:166198003-166198003
33 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*3282A>C SNV Uncertain significance 331897 rs139483482 GRCh37: 2:167051900-167051900
GRCh38: 2:166195390-166195390
34 SCN9A NM_001365536.1(SCN9A):c.-277C>T SNV Uncertain significance 332003 rs201445594 GRCh37: 2:167232433-167232433
GRCh38: 2:166375923-166375923
35 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*124A>G SNV Uncertain significance 331959 rs201137748 GRCh37: 2:167055058-167055058
GRCh38: 2:166198548-166198548
36 SCN9A NM_002977.3(SCN9A):c.-339G>C SNV Uncertain significance 332009 rs886055057 GRCh37: 2:167232495-167232495
GRCh38: 2:166375985-166375985
37 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*1014G>A SNV Uncertain significance 331937 rs200393413 GRCh37: 2:167054168-167054168
GRCh38: 2:166197658-166197658
38 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*2928G>A SNV Uncertain significance 331901 rs199559478 GRCh37: 2:167052254-167052254
GRCh38: 2:166195744-166195744
39 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) SNV Uncertain significance 331975 rs886055054 GRCh37: 2:167129344-167129344
GRCh38: 2:166272834-166272834
40 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*2344C>T SNV Uncertain significance 331910 rs200962814 GRCh37: 2:167052838-167052838
GRCh38: 2:166196328-166196328
41 SCN9A NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) SNV Uncertain significance 331999 rs747265095 GRCh37: 2:167163569-167163569
GRCh38: 2:166307059-166307059
42 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) SNV Uncertain significance 471155 rs371454107 GRCh37: 2:167055329-167055329
GRCh38: 2:166198819-166198819
43 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) SNV Uncertain significance 471128 rs1362318488 GRCh37: 2:167083107-167083107
GRCh38: 2:166226597-166226597
44 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) SNV Uncertain significance 471092 rs200374987 GRCh37: 2:167138287-167138287
GRCh38: 2:166281777-166281777
45 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) SNV Uncertain significance 415032 rs200415928 GRCh37: 2:167144984-167144984
GRCh38: 2:166288474-166288474
46 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) SNV Uncertain significance 626166 rs1558945594 GRCh37: 2:167060891-167060891
GRCh38: 2:166204381-166204381
47 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=) SNV Uncertain significance 471123 rs200610689 GRCh37: 2:167085264-167085264
GRCh38: 2:166228754-166228754
48 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*226A>C SNV Uncertain significance 331953 rs886055048 GRCh37: 2:167054956-167054956
GRCh38: 2:166198446-166198446
49 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*237C>T SNV Uncertain significance 893366 GRCh37: 2:167054945-167054945
GRCh38: 2:166198435-166198435
50 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.*2729C>A SNV Uncertain significance 892995 GRCh37: 2:167052453-167052453
GRCh38: 2:166195943-166195943

Expression for Sodium Channelopathy-Related Small Fiber Neuropathy

Search GEO for disease gene expression data for Sodium Channelopathy-Related Small Fiber Neuropathy.

Pathways for Sodium Channelopathy-Related Small Fiber Neuropathy

GO Terms for Sodium Channelopathy-Related Small Fiber Neuropathy

Cellular components related to Sodium Channelopathy-Related Small Fiber Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 SCN9A SCN11A SCN10A
2 voltage-gated sodium channel complex GO:0001518 8.8 SCN9A SCN11A SCN10A

Biological processes related to Sodium Channelopathy-Related Small Fiber Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.63 SCN9A SCN11A SCN10A
2 transmembrane transport GO:0055085 9.61 SCN9A SCN11A SCN10A
3 regulation of ion transmembrane transport GO:0034765 9.5 SCN9A SCN11A SCN10A
4 sodium ion transport GO:0006814 9.43 SCN9A SCN11A SCN10A
5 cation transmembrane transport GO:0098655 9.4 SCN9A SCN10A
6 sensory perception of pain GO:0019233 9.37 SCN9A SCN10A
7 sodium ion transmembrane transport GO:0035725 9.33 SCN9A SCN11A SCN10A
8 neuronal action potential GO:0019228 9.13 SCN9A SCN11A SCN10A
9 membrane depolarization during action potential GO:0086010 8.8 SCN9A SCN11A SCN10A

Molecular functions related to Sodium Channelopathy-Related Small Fiber Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 SCN9A SCN11A SCN10A
2 voltage-gated ion channel activity GO:0005244 9.43 SCN9A SCN11A SCN10A
3 cation channel activity GO:0005261 9.33 SCN9A SCN11A SCN10A
4 sodium channel activity GO:0005272 9.13 SCN9A SCN11A SCN10A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN9A SCN11A SCN10A

Sources for Sodium Channelopathy-Related Small Fiber Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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