MCID: SDM003
MIFTS: 16

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 56

Characteristics:

Orphanet epidemiological data:

56
sodium channelopathy-related small fiber neuropathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA306577

Summaries for Sodium Channelopathy-Related Small Fiber Neuropathy

MalaCards based summary : Sodium Channelopathy-Related Small Fiber Neuropathy is related to benign familial infantile epilepsy and waardenburg's syndrome. 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

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:

44
id 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:

id 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
12.34 SCN10A SCN11A SCN9A
4
Show member pathways
12.27 SCN10A SCN11A SCN9A
5
Show member pathways
12.09 SCN10A SCN11A SCN9A
6 11.94 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:

id 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)
id 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 9.58 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 sensory perception of pain GO:0019233 9.43 SCN10A SCN9A
8 sodium ion transmembrane transport GO:0035725 9.43 SCN10A SCN11A 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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