MCID: FML340
MIFTS: 18

Familial Episodic Pain Syndrome

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Familial Episodic Pain Syndrome

MalaCards integrated aliases for Familial Episodic Pain Syndrome:

Name: Familial Episodic Pain Syndrome 53 59 37 29
Feps 53 59
Episodic Pain Syndrome, Familial 13

Characteristics:

Orphanet epidemiological data:

59
familial episodic pain syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA391384
ICD10 via Orphanet 34 M79.6
KEGG 37 H01391

Summaries for Familial Episodic Pain Syndrome

MalaCards based summary : Familial Episodic Pain Syndrome, also known as feps, is related to paine syndrome and episodic pain syndrome, familial, 3. An important gene associated with Familial Episodic Pain Syndrome is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11), and among its related pathways/superpathways is Inflammatory mediator regulation of TRP channels.

Related Diseases for Familial Episodic Pain Syndrome

Diseases in the Familial Episodic Pain Syndrome family:

Episodic Pain Syndrome, Familial, 1 Episodic Pain Syndrome, Familial, 2
Episodic Pain Syndrome, Familial, 3

Diseases related to Familial Episodic Pain Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paine syndrome 28.1 SCN11A TRPA1
2 episodic pain syndrome, familial, 3 11.7
3 episodic pain syndrome, familial, 1 11.4
4 episodic pain syndrome, familial, 2 10.9
5 gastric cancer 10.2
6 microcytic anemia 9.9

Graphical network of the top 20 diseases related to Familial Episodic Pain Syndrome:



Diseases related to Familial Episodic Pain Syndrome

Symptoms & Phenotypes for Familial Episodic Pain Syndrome

Drugs & Therapeutics for Familial Episodic Pain Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Episodic Pain Syndrome

Genetic Tests for Familial Episodic Pain Syndrome

Genetic tests related to Familial Episodic Pain Syndrome:

# Genetic test Affiliating Genes
1 Familial Episodic Pain Syndrome 29

Anatomical Context for Familial Episodic Pain Syndrome

Publications for Familial Episodic Pain Syndrome

Articles related to Familial Episodic Pain Syndrome:

# Title Authors Year
1
Infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome in japanese families. ( 27224030 )
2016
2
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. ( 20547126 )
2010

Variations for Familial Episodic Pain Syndrome

Expression for Familial Episodic Pain Syndrome

Search GEO for disease gene expression data for Familial Episodic Pain Syndrome.

Pathways for Familial Episodic Pain Syndrome

Pathways related to Familial Episodic Pain Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Inflammatory mediator regulation of TRP channels hsa04750

GO Terms for Familial Episodic Pain Syndrome

Biological processes related to Familial Episodic Pain Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.26 SCN11A TRPA1
2 transmembrane transport GO:0055085 9.16 SCN11A TRPA1
3 response to drug GO:0042493 8.96 SCN11A TRPA1
4 ion transmembrane transport GO:0034220 8.62 SCN11A TRPA1

Sources for Familial Episodic Pain Syndrome

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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