MCID: EPS028
MIFTS: 16

Episodic Pain Syndrome, Familial, 3

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Pain Syndrome, Familial, 3

MalaCards integrated aliases for Episodic Pain Syndrome, Familial, 3:

Name: Episodic Pain Syndrome, Familial, 3 57 75 29 6 73
Feps3 57 75
Familial Episodic Pain Syndrome with Predominantly Lower Limb Involvement 59

Characteristics:

Orphanet epidemiological data:

59
familial episodic pain syndrome with predominantly lower limb involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated chinese families have been reported (last curated november 2013)
onset in early childhood
pain is noted to feel cold
episodes are triggered by fatigue, illness, or strenuous exercise
pain is relieved by antiinflammatory medication
pain tends to occur later in the day
episodes tend to decrease with age
some patients may present with adult-onset small fiber neuropathy


HPO:

32
episodic pain syndrome, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615552
Orphanet 59 ORPHA391392
ICD10 via Orphanet 34 M79.6
MeSH 44 D010146
SNOMED-CT via HPO 69 263681008 15241006 22253000
UMLS 73 C3809899

Summaries for Episodic Pain Syndrome, Familial, 3

OMIM : 57 Familial episodic pain syndrome is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by Zhang et al., 2013). For a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 (615040). (615552)

MalaCards based summary : Episodic Pain Syndrome, Familial, 3, is also known as feps3. An important gene associated with Episodic Pain Syndrome, Familial, 3 is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11). Related phenotypes are dysautonomia and pain

UniProtKB/Swiss-Prot : 75 Episodic pain syndrome, familial, 3: An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue.

Related Diseases for Episodic Pain Syndrome, Familial, 3

Symptoms & Phenotypes for Episodic Pain Syndrome, Familial, 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis occurs during pain episodes

Neurologic Peripheral Nervous System:
pain, episodic, localized mainly to the distal lower extremities although occasionally occurs in the distal upper extremities
other sensory modalities may be normal or diminished

Neurologic:
autonomic dysfunction, variable


Clinical features from OMIM:

615552

Human phenotypes related to Episodic Pain Syndrome, Familial, 3:

32
# Description HPO Frequency HPO Source Accession
1 dysautonomia 32 frequent (33%) HP:0002459
2 pain 32 HP:0012531

Drugs & Therapeutics for Episodic Pain Syndrome, Familial, 3

Search Clinical Trials , NIH Clinical Center for Episodic Pain Syndrome, Familial, 3

Genetic Tests for Episodic Pain Syndrome, Familial, 3

Genetic tests related to Episodic Pain Syndrome, Familial, 3:

# Genetic test Affiliating Genes
1 Episodic Pain Syndrome, Familial, 3 29 SCN11A

Anatomical Context for Episodic Pain Syndrome, Familial, 3

Publications for Episodic Pain Syndrome, Familial, 3

Variations for Episodic Pain Syndrome, Familial, 3

UniProtKB/Swiss-Prot genetic disease variations for Episodic Pain Syndrome, Familial, 3:

75
# Symbol AA change Variation ID SNP ID
1 SCN11A p.Arg225Cys VAR_070919 rs138607170
2 SCN11A p.Ala808Gly VAR_070920 rs483352921
3 SCN11A p.Arg222His VAR_076679
4 SCN11A p.Arg222Ser VAR_076680
5 SCN11A p.Ile381Thr VAR_076682 rs606231280
6 SCN11A p.Gly699Arg VAR_076686 rs145734191
7 SCN11A p.Leu1158Pro VAR_076688 rs141686175

ClinVar genetic disease variations for Episodic Pain Syndrome, Familial, 3:

6
(show top 50) (show all 287)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN11A NM_001349253.1(SCN11A): c.673C> T (p.Arg225Cys) single nucleotide variant Pathogenic rs138607170 GRCh37 Chromosome 3, 38966945: 38966945
2 SCN11A NM_001349253.1(SCN11A): c.673C> T (p.Arg225Cys) single nucleotide variant Pathogenic rs138607170 GRCh38 Chromosome 3, 38925454: 38925454
3 SCN11A NM_001349253.1(SCN11A): c.673C> T (p.Arg225Cys) single nucleotide variant Pathogenic rs138607170 NCBI36 Chromosome 3, 38941949: 38941949
4 SCN11A NM_014139.2(SCN11A): c.2423C> G (p.Ala808Gly) single nucleotide variant Pathogenic rs483352921 GRCh37 Chromosome 3, 38936436: 38936436
5 SCN11A NM_014139.2(SCN11A): c.2423C> G (p.Ala808Gly) single nucleotide variant Pathogenic rs483352921 GRCh38 Chromosome 3, 38894945: 38894945
6 SCN11A NM_014139.2(SCN11A): c.3473T> C (p.Leu1158Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs141686175 GRCh38 Chromosome 3, 38872215: 38872215
7 SCN11A NM_014139.2(SCN11A): c.3473T> C (p.Leu1158Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs141686175 GRCh37 Chromosome 3, 38913706: 38913706
8 SCN11A NM_014139.2(SCN11A): c.1142T> C (p.Ile381Thr) single nucleotide variant Pathogenic rs606231280 GRCh38 Chromosome 3, 38909154: 38909154
9 SCN11A NM_014139.2(SCN11A): c.1142T> C (p.Ile381Thr) single nucleotide variant Pathogenic rs606231280 GRCh37 Chromosome 3, 38950645: 38950645
10 SCN11A NM_014139.2(SCN11A): c.1730C> T (p.Pro577Leu) single nucleotide variant Uncertain significance rs374524879 GRCh37 Chromosome 3, 38945468: 38945468
11 SCN11A NM_014139.2(SCN11A): c.1730C> T (p.Pro577Leu) single nucleotide variant Uncertain significance rs374524879 GRCh38 Chromosome 3, 38903977: 38903977
12 SCN11A NM_014139.2(SCN11A): c.5207G> T (p.Gly1736Val) single nucleotide variant Likely benign rs143852849 GRCh37 Chromosome 3, 38888354: 38888354
13 SCN11A NM_014139.2(SCN11A): c.5207G> T (p.Gly1736Val) single nucleotide variant Likely benign rs143852849 GRCh38 Chromosome 3, 38846863: 38846863
14 SCN11A NM_014139.2(SCN11A): c.5037C> T (p.Arg1679=) single nucleotide variant Benign rs61752574 GRCh37 Chromosome 3, 38888524: 38888524
15 SCN11A NM_014139.2(SCN11A): c.5037C> T (p.Arg1679=) single nucleotide variant Benign rs61752574 GRCh38 Chromosome 3, 38847033: 38847033
16 SCN11A NM_014139.2(SCN11A): c.4977C> T (p.Val1659=) single nucleotide variant Likely benign rs150087925 GRCh37 Chromosome 3, 38888584: 38888584
17 SCN11A NM_014139.2(SCN11A): c.4977C> T (p.Val1659=) single nucleotide variant Likely benign rs150087925 GRCh38 Chromosome 3, 38847093: 38847093
18 SCN11A NM_014139.2(SCN11A): c.4604A> G (p.Lys1535Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 38888957: 38888957
19 SCN11A NM_014139.2(SCN11A): c.4604A> G (p.Lys1535Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 38847466: 38847466
20 SCN11A NM_014139.2(SCN11A): c.4230G> A (p.Thr1410=) single nucleotide variant Benign rs78953918 GRCh37 Chromosome 3, 38892069: 38892069
21 SCN11A NM_014139.2(SCN11A): c.4230G> A (p.Thr1410=) single nucleotide variant Benign rs78953918 GRCh38 Chromosome 3, 38850578: 38850578
22 SCN11A NM_014139.2(SCN11A): c.3724A> G (p.Asn1242Asp) single nucleotide variant Uncertain significance rs769151002 GRCh37 Chromosome 3, 38912971: 38912971
23 SCN11A NM_014139.2(SCN11A): c.3724A> G (p.Asn1242Asp) single nucleotide variant Uncertain significance rs769151002 GRCh38 Chromosome 3, 38871480: 38871480
24 SCN11A NM_014139.2(SCN11A): c.3042A> T (p.Gln1014His) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 38926801: 38926801
25 SCN11A NM_014139.2(SCN11A): c.3042A> T (p.Gln1014His) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 38885310: 38885310
26 SCN11A NM_014139.2(SCN11A): c.2693G> A (p.Gly898Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 38936166: 38936166
27 SCN11A NM_014139.2(SCN11A): c.2693G> A (p.Gly898Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 38894675: 38894675
28 SCN11A NM_014139.2(SCN11A): c.2530T> C (p.Cys844Arg) single nucleotide variant Uncertain significance rs201598026 GRCh37 Chromosome 3, 38936329: 38936329
29 SCN11A NM_014139.2(SCN11A): c.2530T> C (p.Cys844Arg) single nucleotide variant Uncertain significance rs201598026 GRCh38 Chromosome 3, 38894838: 38894838
30 SCN11A NM_014139.2(SCN11A): c.2384C> T (p.Thr795Met) single nucleotide variant Uncertain significance rs767279633 GRCh37 Chromosome 3, 38938355: 38938355
31 SCN11A NM_014139.2(SCN11A): c.2384C> T (p.Thr795Met) single nucleotide variant Uncertain significance rs767279633 GRCh38 Chromosome 3, 38896864: 38896864
32 SCN11A NM_014139.2(SCN11A): c.2213C> T (p.Pro738Leu) single nucleotide variant Likely benign rs140995438 GRCh38 Chromosome 3, 38897035: 38897035
33 SCN11A NM_014139.2(SCN11A): c.2213C> T (p.Pro738Leu) single nucleotide variant Likely benign rs140995438 GRCh37 Chromosome 3, 38938526: 38938526
34 SCN11A NM_014139.2(SCN11A): c.1904A> G (p.His635Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 38941503: 38941503
35 SCN11A NM_014139.2(SCN11A): c.1904A> G (p.His635Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 38900012: 38900012
36 SCN11A NM_014139.2(SCN11A): c.1575T> C (p.Ala525=) single nucleotide variant Benign rs201554884 GRCh37 Chromosome 3, 38946711: 38946711
37 SCN11A NM_014139.2(SCN11A): c.1575T> C (p.Ala525=) single nucleotide variant Benign rs201554884 GRCh38 Chromosome 3, 38905220: 38905220
38 SCN11A NM_014139.2(SCN11A): c.1062G> A (p.Arg354=) single nucleotide variant Benign rs73828709 GRCh37 Chromosome 3, 38951596: 38951596
39 SCN11A NM_014139.2(SCN11A): c.1062G> A (p.Arg354=) single nucleotide variant Benign rs73828709 GRCh38 Chromosome 3, 38910105: 38910105
40 SCN11A NM_014139.2(SCN11A): c.30T> C (p.Phe10=) single nucleotide variant Likely benign rs139252438 GRCh37 Chromosome 3, 38991824: 38991824
41 SCN11A NM_014139.2(SCN11A): c.30T> C (p.Phe10=) single nucleotide variant Likely benign rs139252438 GRCh38 Chromosome 3, 38950333: 38950333
42 SCN11A NM_014139.2(SCN11A): c.5334G> A (p.Leu1778=) single nucleotide variant Benign rs4640498 GRCh38 Chromosome 3, 38846736: 38846736
43 SCN11A NM_014139.2(SCN11A): c.5334G> A (p.Leu1778=) single nucleotide variant Benign rs4640498 GRCh37 Chromosome 3, 38888227: 38888227
44 SCN11A NM_001349253.1(SCN11A): c.5261_5270dup (p.Asp1758Terfs) duplication Uncertain significance GRCh38 Chromosome 3, 38846800: 38846809
45 SCN11A NM_001349253.1(SCN11A): c.5261_5270dup (p.Asp1758Terfs) duplication Uncertain significance GRCh37 Chromosome 3, 38888291: 38888300
46 SCN11A NM_014139.2(SCN11A): c.5229C> G (p.Ala1743=) single nucleotide variant Likely benign rs763503543 GRCh38 Chromosome 3, 38846841: 38846841
47 SCN11A NM_014139.2(SCN11A): c.5229C> G (p.Ala1743=) single nucleotide variant Likely benign rs763503543 GRCh37 Chromosome 3, 38888332: 38888332
48 SCN11A NM_014139.2(SCN11A): c.5169C> T (p.Pro1723=) single nucleotide variant Benign rs116714494 GRCh37 Chromosome 3, 38888392: 38888392
49 SCN11A NM_014139.2(SCN11A): c.5169C> T (p.Pro1723=) single nucleotide variant Benign rs116714494 GRCh38 Chromosome 3, 38846901: 38846901
50 SCN11A NM_014139.2(SCN11A): c.5067C> G (p.Phe1689Leu) single nucleotide variant Uncertain significance rs201107889 GRCh37 Chromosome 3, 38888494: 38888494

Expression for Episodic Pain Syndrome, Familial, 3

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Pathways for Episodic Pain Syndrome, Familial, 3

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