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 55

Characteristics:

Orphanet epidemiological data:

55
sodium channelopathy-related small fiber neuropathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA306577

Summaries for Sodium Channelopathy-Related Small Fiber Neuropathy

MalaCards based summary : Sodium Channelopathy-Related Small Fiber Neuropathy is related to erythromelalgia and trigeminal nerve disease. 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 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 erythromelalgia 9.5 SCN10A SCN9A
2 trigeminal nerve disease 9.4 SCN11A SCN9A
3 erythermalgia, primary 9.3 SCN10A SCN11A SCN9A
4 indifference to pain, congenital, autosomal recessive 9.2 SCN10A SCN11A SCN9A
5 paroxysmal extreme pain disorder 9.2 SCN10A SCN11A SCN9A
6 trigeminal neuralgia 9.2 SCN10A SCN11A SCN9A
7 paine syndrome 9.1 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:

43
# 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

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.67 SCN10A SCN11A SCN9A
2 ion transport GO:0006811 9.63 SCN10A SCN11A SCN9A
3 transmembrane transport GO:0055085 9.61 SCN10A SCN11A SCN9A
4 regulation of ion transmembrane transport GO:0034765 9.54 SCN10A SCN11A SCN9A
5 sodium ion transport GO:0006814 9.5 SCN10A SCN11A SCN9A
6 ion transmembrane transport GO:0034220 9.48 SCN11A SCN9A
7 sodium ion transmembrane transport GO:0035725 9.43 SCN10A SCN11A SCN9A
8 sensory perception of pain GO:0019233 9.4 SCN10A SCN9A
9 regulation of postsynaptic membrane potential GO:0060078 9.33 SCN10A SCN11A SCN9A
10 neuronal action potential GO:0019228 9.13 SCN10A SCN11A SCN9A
11 membrane depolarization during action potential GO:0086010 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 voltage-gated ion channel activity GO:0005244 9.43 SCN10A SCN11A SCN9A
2 ion channel activity GO:0005216 9.33 SCN10A SCN11A SCN9A
3 sodium channel activity GO:0005272 9.13 SCN10A SCN11A SCN9A
4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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