FEPS
MCID: FML340
MIFTS: 24

Familial Episodic Pain Syndrome (FEPS)

Categories: Genetic diseases, Neuronal diseases, Rare 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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 391384Disease definitionFamilial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Familial Episodic Pain Syndrome, also known as feps, is related to episodic pain syndrome, familial, 3 and episodic pain syndrome, familial, 1. 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. Affiliated tissues include brain and pituitary.

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 episodic pain syndrome, familial, 3 11.8
2 episodic pain syndrome, familial, 1 11.5
3 episodic pain syndrome, familial, 2 11.0
4 gastric cancer 10.3
5 microcytic anemia 10.0
6 fibroepithelial basal cell carcinoma 10.0
7 isolated optic neuritis 10.0
8 paine syndrome 9.6 SCN11A TRPA1

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

MalaCards organs/tissues related to Familial Episodic Pain Syndrome:

41
Brain, Pituitary

Publications for Familial Episodic Pain Syndrome

Articles related to Familial Episodic Pain Syndrome:

(show all 15)
# Title Authors Year
1
Investigating the link between drug-naive first episode psychoses (FEPs), weight gain abnormalities and brain structural damages: Relevance and implications for therapy. ( 28363765 )
2017
2
Infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome in japanese families. ( 27224030 )
2016
3
Abstracts of the 25th Anniversary of the FEPS, 168th Anniversary of French Physiological Society, Paris (France), June 29th - July 1st 2016. ( 27329970 )
2016
4
Abstracts of the Joint meeting of the Federation of European Physiological Societies (FEPS) and the Hungarian Physiological Society, 27-30 August 2014, Budapest, Hungary. ( 25139311 )
2014
5
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. ( 20547126 )
2010
6
High energy excitations measured by neutron spectroscopy in FePS(3). ( 21817456 )
2009
7
Role of Na+,K+-pumps and transmembrane Na+,K+-distribution in muscle function. The FEPS lecture - Bratislava 2007. ( 17988242 )
2008
8
The FEPS Inaugural Lecture--Bristol 2005. ( 16776658 )
2006
9
FEPS in Nice: a date with the best of European physiology. ( 12739167 )
2003
10
The Federation of European Physiological Societies (FEPS). Are physiologists ready for new physiology? ( 10898535 )
2000
11
2nd Federation of European Physiological Societies (FEPS) Congress. Prague, Czech Republic, June 30-July 4, 1999. Abstracts. ( 10555526 )
1999
12
Endoscopic endonasal transsphenoidal approach to the sella: towards functional endoscopic pituitary surgery (FEPS). ( 9651913 )
1998
13
A comparison of the acute neuroactive effects of dichloromethane, 1,3-dichloropropane, and 1,2-dichlorobenzene on rat flash evoked potentials (FEPs). ( 9024671 )
1997
14
Alterations in flash evoked potentials (FEPs) in rats produced by 3,3'-iminodipropionitrile (IDPN). ( 8747746 )
1995
15
European physiologists join forces. Federation of European Physiological Societies (FEPS) founded. ( 2057320 )
1991

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 9.16 SCN11A TRPA1
2 transmembrane transport GO:0055085 8.96 SCN11A TRPA1
3 response to drug GO:0042493 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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