FEPS2
MCID: EPS027
MIFTS: 17

Episodic Pain Syndrome, Familial, 2 (FEPS2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Pain Syndrome, Familial, 2

MalaCards integrated aliases for Episodic Pain Syndrome, Familial, 2:

Name: Episodic Pain Syndrome, Familial, 2 58 76 30 6 74
Feps2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
two families have been reported (last curated december 2013)


HPO:

33
episodic pain syndrome, familial, 2:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615551
MeSH 45 D010146
SNOMED-CT via HPO 70 263681008
UMLS 74 C3809893

Summaries for Episodic Pain Syndrome, Familial, 2

OMIM : 58 Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by Faber et al., 2012). For a discussion of genetic heterogeneity of familial episodic pain syndrome, see 615040. (615551)

MalaCards based summary : Episodic Pain Syndrome, Familial, 2, is also known as feps2, and has symptoms including hyperalgesia An important gene associated with Episodic Pain Syndrome, Familial, 2 is SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10). Affiliated tissues include skin, and related phenotype is hyperalgesia.

UniProtKB/Swiss-Prot : 76 Episodic pain syndrome, familial, 2: An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities.

Related Diseases for Episodic Pain Syndrome, Familial, 2

Symptoms & Phenotypes for Episodic Pain Syndrome, Familial, 2

Human phenotypes related to Episodic Pain Syndrome, Familial, 2:

33
# Description HPO Frequency HPO Source Accession
1 hyperalgesia 33 HP:0031005

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
hyperalgesia
burning pain, episodic, affecting distal lower extremities and hands
decreased intraepidermal nerve fiber density seen on skin biopsy

Skin Nails Hair Skin:
skin may redden during episodes
itch (in some patients)

Clinical features from OMIM:

615551

UMLS symptoms related to Episodic Pain Syndrome, Familial, 2:


hyperalgesia

Drugs & Therapeutics for Episodic Pain Syndrome, Familial, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of System Constellations in a General Population Completed NCT01352325 Phase 2, Phase 3

Search NIH Clinical Center for Episodic Pain Syndrome, Familial, 2

Genetic Tests for Episodic Pain Syndrome, Familial, 2

Genetic tests related to Episodic Pain Syndrome, Familial, 2:

# Genetic test Affiliating Genes
1 Episodic Pain Syndrome, Familial, 2 30 SCN10A

Anatomical Context for Episodic Pain Syndrome, Familial, 2

MalaCards organs/tissues related to Episodic Pain Syndrome, Familial, 2:

42
Skin

Publications for Episodic Pain Syndrome, Familial, 2

Variations for Episodic Pain Syndrome, Familial, 2

UniProtKB/Swiss-Prot genetic disease variations for Episodic Pain Syndrome, Familial, 2:

76
# Symbol AA change Variation ID SNP ID
1 SCN10A p.Leu554Pro VAR_070878 rs138404783
2 SCN10A p.Ala1304Thr VAR_070882 rs142173735

ClinVar genetic disease variations for Episodic Pain Syndrome, Familial, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN10A NM_006514.3(SCN10A): c.1661T> C (p.Leu554Pro) single nucleotide variant Likely benign rs138404783 GRCh37 Chromosome 3, 38793804: 38793804
2 SCN10A NM_006514.3(SCN10A): c.1661T> C (p.Leu554Pro) single nucleotide variant Likely benign rs138404783 GRCh38 Chromosome 3, 38752313: 38752313
3 SCN10A NM_006514.3(SCN10A): c.3910G> A (p.Ala1304Thr) single nucleotide variant Pathogenic rs142173735 GRCh37 Chromosome 3, 38753831: 38753831
4 SCN10A NM_006514.3(SCN10A): c.3910G> A (p.Ala1304Thr) single nucleotide variant Pathogenic rs142173735 GRCh38 Chromosome 3, 38712340: 38712340
5 SCN10A NM_001293306.2(SCN10A): c.2449C> T (p.Arg817Ter) single nucleotide variant Uncertain significance rs763084100 GRCh37 Chromosome 3, 38770224: 38770224
6 SCN10A NM_001293306.2(SCN10A): c.2449C> T (p.Arg817Ter) single nucleotide variant Uncertain significance rs763084100 GRCh38 Chromosome 3, 38728733: 38728733
7 SCN10A NM_006514.3(SCN10A): c.41G> T (p.Arg14Leu) single nucleotide variant Likely benign rs141207048 GRCh37 Chromosome 3, 38835461: 38835461
8 SCN10A NM_006514.3(SCN10A): c.41G> T (p.Arg14Leu) single nucleotide variant Likely benign rs141207048 GRCh38 Chromosome 3, 38793970: 38793970

Expression for Episodic Pain Syndrome, Familial, 2

Search GEO for disease gene expression data for Episodic Pain Syndrome, Familial, 2.

Pathways for Episodic Pain Syndrome, Familial, 2

GO Terms for Episodic Pain Syndrome, Familial, 2

Sources for Episodic Pain Syndrome, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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