FEPS2
MCID: EPS027
MIFTS: 16

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 57 75 29 6 73
Feps2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
episodic pain syndrome, familial, 2:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615551
MeSH 44 D010146
SNOMED-CT via HPO 69 263681008
UMLS 73 C3809893

Summaries for Episodic Pain Syndrome, Familial, 2

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 hyperalgesia 32 HP:0031005

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 29 SCN10A

Anatomical Context for Episodic Pain Syndrome, Familial, 2

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

41
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:

75
# 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

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 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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