FEPS2
MCID: EPS027
MIFTS: 33

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 72 29 6 70
Feps2 57 12 72
Familial Episodic Pain Syndrome 2 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
two families have been reported (last curated december 2013)

Inheritance:
autosomal dominant


HPO:

31
episodic pain syndrome, familial, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111730
OMIM® 57 615551
OMIM Phenotypic Series 57 PS615040
MeSH 44 D010146
SNOMED-CT via HPO 68 263681008
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Episodic Pain Syndrome, Familial, 2, also known as feps2, is related to pain agnosia and agnosia, and has symptoms including hyperalgesia An important gene associated with Episodic Pain Syndrome, Familial, 2 is SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Related phenotype is hyperalgesia.

Disease Ontology : 12 A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has material basis in heterozygous mutation in the SCN10A gene on chromosome 3p22.

UniProtKB/Swiss-Prot : 72 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

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 Episodic Pain Syndrome, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 pain agnosia 10.0 SCN9A SCN10A
2 agnosia 10.0 SCN9A SCN10A
3 progressive familial heart block, type ia 10.0 SCN9A SCN3A
4 generalized epilepsy with febrile seizures plus, type 2 10.0 SCN9A SCN11A
5 neonatal period electroclinical syndrome 10.0 SCN9A SCN3A
6 benign familial infantile epilepsy 9.9 SCN9A SCN3A
7 familial febrile seizures 9.9 SCN9A SCN3A
8 sensory peripheral neuropathy 9.9 SCN9A SCN11A
9 autonomic neuropathy 9.9 SCN9A SCN11A
10 lennox-gastaut syndrome 9.8 SCN9A SCN3A
11 causalgia 9.8 SCN9A SCN11A SCN10A
12 indifference to pain, congenital, autosomal recessive 9.8 SCN9A SCN11A SCN10A
13 sodium channelopathy-related small fiber neuropathy 9.8 SCN9A SCN11A SCN10A
14 erythermalgia, primary 9.8 SCN9A SCN11A SCN10A
15 early myoclonic encephalopathy 9.8 SCN9A SCN3A
16 west syndrome 9.7 SCN3A SCN11A SCN10A
17 peripheral nervous system disease 9.7 SCN9A SCN11A SCN10A
18 epilepsy, idiopathic generalized 9.7 SCN9A SCN3A SCN11A
19 episodic pain syndrome, familial, 3 9.6 SCN9A SCN3A SCN11A SCN10A
20 trigeminal nerve disease 9.6 SCN9A SCN3A SCN11A SCN10A
21 trigeminal neuralgia 9.6 SCN9A SCN3A SCN11A SCN10A
22 autonomic nervous system disease 9.6 SCN9A SCN3A SCN11A SCN10A
23 migraine, familial hemiplegic, 3 9.6 SCN9A SCN3A KCNV2
24 erythromelalgia 9.6 SCN9A SCN3A SCN11A SCN10A
25 somatoform disorder 9.6 SCN9A SCN3A SCN11A SCN10A
26 paroxysmal extreme pain disorder 9.6 SCN9A SCN3A SCN11A SCN10A
27 paine syndrome 9.6 SCN9A SCN3A SCN11A SCN10A
28 generalized epilepsy with febrile seizures plus 9.5 SCN9A SCN3A SCN11A SCN10A
29 dravet syndrome 9.5 SCN9A SCN3A SCN11A SCN10A
30 migraine with or without aura 1 9.5 SCN9A SCN3A SCN11A SCN10A
31 familial episodic pain syndrome 9.5 SCN9A SCN11A SCN10A KCNH5
32 autosomal dominant nocturnal frontal lobe epilepsy 9.4 KCNV2 KCNH5
33 brugada syndrome 9.3 SCN9A SCN3A SCN11A SCN10A LOC110121288
34 neuropathy, hereditary sensory and autonomic, type vii 9.2 SCN3A SCN11A KCNV2 KCNH5
35 early infantile epileptic encephalopathy 9.2 SCN9A SCN3A SCN11A SCN10A KCNH5

Graphical network of the top 20 diseases related to Episodic Pain Syndrome, Familial, 2:



Diseases related to Episodic Pain Syndrome, Familial, 2

Symptoms & Phenotypes for Episodic Pain Syndrome, Familial, 2

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

31
# Description HPO Frequency HPO Source Accession
1 hyperalgesia 31 HP:0031005

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


hyperalgesia

Drugs & Therapeutics for Episodic Pain Syndrome, Familial, 2

Search Clinical Trials , 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

Publications for Episodic Pain Syndrome, Familial, 2

Articles related to Episodic Pain Syndrome, Familial, 2:

# Title Authors PMID Year
1
Gain-of-function Nav1.8 mutations in painful neuropathy. 6 57
23115331 2012

Variations for Episodic Pain Syndrome, Familial, 2

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

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN10A NM_006514.3(SCN10A):c.1661T>C (p.Leu554Pro) SNV Pathogenic 89014 rs138404783 GRCh37: 3:38793804-38793804
GRCh38: 3:38752313-38752313
2 SCN10A NM_006514.3(SCN10A):c.3910G>A (p.Ala1304Thr) SNV Pathogenic 89015 rs142173735 GRCh37: 3:38753831-38753831
GRCh38: 3:38712340-38712340
3 SCN10A NM_006514.3(SCN10A):c.5548C>T (p.Gln1850Ter) SNV Pathogenic 430247 rs149504103 GRCh37: 3:38739163-38739163
GRCh38: 3:38697672-38697672
4 LOC110121288 , SCN10A NM_006514.3(SCN10A):c.3238G>A (p.Asp1080Asn) SNV Uncertain significance 463247 rs376528831 GRCh37: 3:38765035-38765035
GRCh38: 3:38723544-38723544
5 SCN10A NM_006514.4(SCN10A):c.3767G>A (p.Arg1256Gln) SNV Uncertain significance 1031647 GRCh37: 3:38755486-38755486
GRCh38: 3:38713995-38713995
6 SCN10A NM_006514.3(SCN10A):c.2441G>A (p.Arg814His) SNV Uncertain significance 420025 rs139861061 GRCh37: 3:38770232-38770232
GRCh38: 3:38728741-38728741
7 SCN10A NM_006514.3(SCN10A):c.3803G>A (p.Arg1268Gln) SNV Uncertain significance 240673 rs138832868 GRCh37: 3:38755450-38755450
GRCh38: 3:38713959-38713959
8 SCN10A NM_006514.3(SCN10A):c.905G>A (p.Arg302Gln) SNV Uncertain significance 376797 rs201955990 GRCh37: 3:38802217-38802217
GRCh38: 3:38760726-38760726
9 SCN10A NM_006514.3(SCN10A):c.724T>A (p.Ser242Thr) SNV Uncertain significance 449360 rs140288103 GRCh37: 3:38802842-38802842
GRCh38: 3:38761351-38761351
10 SCN10A NM_006514.3(SCN10A):c.472T>G (p.Tyr158Asp) SNV Uncertain significance 463260 rs202192818 GRCh37: 3:38812897-38812897
GRCh38: 3:38771406-38771406
11 LOC110121288 , SCN10A NM_006514.3(SCN10A):c.2842G>C (p.Val948Leu) SNV Uncertain significance 407748 rs145694222 GRCh37: 3:38768342-38768342
GRCh38: 3:38726851-38726851
12 SCN10A NM_006514.3(SCN10A):c.4655C>T (p.Ala1552Val) SNV Uncertain significance 240677 rs756133876 GRCh37: 3:38743332-38743332
GRCh38: 3:38701841-38701841
13 LOC110121288 , SCN10A NM_006514.3(SCN10A):c.3482T>C (p.Met1161Thr) SNV Uncertain significance 463249 rs200713724 GRCh37: 3:38763774-38763774
GRCh38: 3:38722283-38722283
14 SCN10A NM_006514.3(SCN10A):c.2266C>T (p.Arg756Trp) SNV Uncertain significance 532059 rs374341474 GRCh37: 3:38781020-38781020
GRCh38: 3:38739529-38739529
15 SCN10A NM_001293306.2(SCN10A):c.2449C>T (p.Arg817Ter) SNV Uncertain significance 225464 rs763084100 GRCh37: 3:38770224-38770224
GRCh38: 3:38728733-38728733
16 SCN10A NM_006514.3(SCN10A):c.1276C>T (p.Arg426Trp) SNV Uncertain significance 572815 rs532774213 GRCh37: 3:38798179-38798179
GRCh38: 3:38756688-38756688
17 SCN10A NM_006514.3(SCN10A):c.1454G>A (p.Arg485His) SNV Uncertain significance 463233 rs746690639 GRCh37: 3:38797286-38797286
GRCh38: 3:38755795-38755795
18 LOC110121288 , SCN10A NM_006514.3(SCN10A):c.3353-6C>T SNV Uncertain significance 931486 GRCh37: 3:38763909-38763909
GRCh38: 3:38722418-38722418
19 SCN10A NM_006514.3(SCN10A):c.1461+5G>C SNV Uncertain significance 931590 GRCh37: 3:38797274-38797274
GRCh38: 3:38755783-38755783
20 SCN10A NM_006514.3(SCN10A):c.824A>C (p.Lys275Thr) SNV Uncertain significance 931911 GRCh37: 3:38802742-38802742
GRCh38: 3:38761251-38761251
21 SCN10A NM_006514.3(SCN10A):c.1534C>G (p.Arg512Gly) SNV Uncertain significance 431375 rs200714519 GRCh37: 3:38793931-38793931
GRCh38: 3:38752440-38752440
22 SCN10A NM_006514.3(SCN10A):c.41G>T (p.Arg14Leu) SNV Likely benign 414623 rs141207048 GRCh37: 3:38835461-38835461
GRCh38: 3:38793970-38793970

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

72
# Symbol AA change Variation ID SNP ID
1 SCN10A p.Leu554Pro VAR_070878 rs138404783
2 SCN10A p.Ala1304Thr VAR_070882 rs142173735

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

Pathways related to Episodic Pain Syndrome, Familial, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 SCN9A SCN3A SCN11A SCN10A KCNV2
2
Show member pathways
12.97 SCN9A SCN3A SCN11A SCN10A
3
Show member pathways
12.54 SCN9A SCN3A SCN11A SCN10A
4
Show member pathways
12.35 SCN9A SCN3A SCN11A SCN10A
5 12.14 SCN9A SCN11A SCN10A
6
Show member pathways
12.14 SCN9A SCN3A SCN11A SCN10A KCNV2
7
Show member pathways
11.65 SCN9A SCN3A SCN11A SCN10A
8
Show member pathways
11.58 SCN9A SCN3A
9
Show member pathways
11.13 SCN9A SCN3A SCN11A SCN10A
10 10.4 SCN9A SCN3A SCN11A SCN10A

GO Terms for Episodic Pain Syndrome, Familial, 2

Cellular components related to Episodic Pain Syndrome, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.63 SCN9A SCN3A SCN11A SCN10A KCNV2 KCNH5
2 axon GO:0030424 9.26 SCN9A SCN3A SCN11A SCN10A
3 voltage-gated sodium channel complex GO:0001518 8.92 SCN9A SCN3A SCN11A SCN10A

Biological processes related to Episodic Pain Syndrome, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 SCN9A SCN3A SCN11A SCN10A KCNV2 KCNH5
2 transmembrane transport GO:0055085 9.73 SCN9A SCN3A SCN11A SCN10A KCNV2 KCNH5
3 sodium ion transport GO:0006814 9.71 SCN9A SCN3A SCN11A SCN10A
4 sodium ion transmembrane transport GO:0035725 9.67 SCN9A SCN3A SCN11A SCN10A
5 ion transmembrane transport GO:0034220 9.63 SCN9A SCN3A SCN10A
6 cation transmembrane transport GO:0098655 9.61 SCN9A SCN3A SCN10A
7 sensory perception of pain GO:0019233 9.48 SCN9A SCN10A
8 neuronal action potential GO:0019228 9.46 SCN9A SCN3A SCN11A SCN10A
9 membrane depolarization during action potential GO:0086010 9.26 SCN9A SCN3A SCN11A SCN10A
10 regulation of ion transmembrane transport GO:0034765 9.1 SCN9A SCN3A SCN11A SCN10A KCNV2 KCNH5

Molecular functions related to Episodic Pain Syndrome, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.62 SCN9A SCN3A SCN11A SCN10A
2 sodium channel activity GO:0005272 9.56 SCN9A SCN3A SCN11A SCN10A
3 voltage-gated sodium channel activity GO:0005248 9.46 SCN9A SCN3A SCN11A SCN10A
4 ion channel activity GO:0005216 9.43 SCN9A SCN3A SCN11A SCN10A KCNV2 KCNH5
5 potassium channel activity GO:0005267 9.4 KCNV2 KCNH5
6 voltage-gated potassium channel activity GO:0005249 9.37 KCNV2 KCNH5
7 voltage-gated ion channel activity GO:0005244 9.1 SCN9A SCN3A SCN11A SCN10A KCNV2 KCNH5

Sources for Episodic Pain Syndrome, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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