MCID: SDM003
MIFTS: 17

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 59 6

Characteristics:

Orphanet epidemiological data:

59
sodium channelopathy-related small fiber neuropathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA306577

Summaries for Sodium Channelopathy-Related Small Fiber Neuropathy

MalaCards based summary : Sodium Channelopathy-Related Small Fiber Neuropathy is related to trigeminal nerve disease and trigeminal neuralgia. An important gene associated with Sodium Channelopathy-Related Small Fiber Neuropathy is SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Related phenotype is integument.

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:

# Related Disease Score Top Affiliating Genes
1 trigeminal nerve disease 9.4 SCN11A SCN9A
2 trigeminal neuralgia 9.2 SCN10A SCN9A
3 erythromelalgia 9.1 SCN10A SCN9A
4 neuropathy 9.0 SCN11A SCN9A
5 erythermalgia, primary 8.8 SCN10A SCN11A SCN9A
6 indifference to pain, congenital, autosomal recessive 8.8 SCN10A SCN11A SCN9A
7 paroxysmal extreme pain disorder 8.8 SCN10A SCN11A SCN9A
8 paine syndrome 8.7 SCN10A SCN11A SCN9A

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

MGI Mouse Phenotypes related to Sodium Channelopathy-Related Small Fiber Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 SCN10A SCN11A SCN9A

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

Variations for Sodium Channelopathy-Related Small Fiber Neuropathy

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN10A NM_006514.3(SCN10A): c.4849G> T (p.Val1617Phe) single nucleotide variant Uncertain significance rs375940680 GRCh37 Chromosome 3, 38739862: 38739862
2 SCN10A NM_006514.3(SCN10A): c.4849G> T (p.Val1617Phe) single nucleotide variant Uncertain significance rs375940680 GRCh38 Chromosome 3, 38698371: 38698371

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 SCN10A SCN11A SCN9A
2
Show member pathways
12.82 SCN10A SCN11A SCN9A
3
Show member pathways
12.45 SCN10A SCN11A SCN9A
4
Show member pathways
12.27 SCN10A SCN11A SCN9A
5
Show member pathways
12.09 SCN10A SCN11A SCN9A
6 11.97 SCN10A SCN11A SCN9A
7
Show member pathways
11.43 SCN10A SCN11A SCN9A
8
Show member pathways
11.01 SCN10A SCN11A SCN9A
9 10.28 SCN10A SCN11A SCN9A

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 voltage-gated sodium channel complex GO:0001518 8.8 SCN10A SCN11A SCN9A

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 9.61 SCN10A SCN11A SCN9A
2 transmembrane transport GO:0055085 9.58 SCN10A SCN11A SCN9A
3 regulation of ion transmembrane transport GO:0034765 9.5 SCN10A SCN11A SCN9A
4 ion transmembrane transport GO:0034220 9.46 SCN11A SCN9A
5 sodium ion transport GO:0006814 9.43 SCN10A SCN11A SCN9A
6 sensory perception of pain GO:0019233 9.37 SCN10A SCN9A
7 sodium ion transmembrane transport GO:0035725 9.33 SCN10A SCN11A SCN9A
8 membrane depolarization during action potential GO:0086010 9.13 SCN10A SCN11A SCN9A
9 neuronal action potential GO:0019228 8.8 SCN10A SCN11A SCN9A

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 SCN10A SCN11A SCN9A
2 voltage-gated ion channel activity GO:0005244 9.43 SCN10A SCN11A SCN9A
3 cation channel activity GO:0005261 9.33 SCN10A SCN11A SCN9A
4 sodium channel activity GO:0005272 9.13 SCN10A SCN11A SCN9A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN10A SCN11A SCN9A

Sources for Sodium Channelopathy-Related Small Fiber Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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