FEPS3
MCID: EPS028
MIFTS: 27

Episodic Pain Syndrome, Familial, 3 (FEPS3)

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 74 29 6 72
Feps3 57 74
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:
onset in early childhood
two unrelated chinese families have been reported (last curated november 2013)
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:

MeSH 44 D010146
ICD10 via Orphanet 34 M79.6
Orphanet 59 ORPHA391392
UMLS 72 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, also known as feps3, is related to familial episodic pain syndrome and triiodothyronine receptor auxiliary protein. An important gene associated with Episodic Pain Syndrome, Familial, 3 is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11). Related phenotypes are abnormal autonomic nervous system physiology and pain

UniProtKB/Swiss-Prot : 74 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

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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial episodic pain syndrome 10.5
2 triiodothyronine receptor auxiliary protein 10.2

Symptoms & Phenotypes for Episodic Pain Syndrome, Familial, 3

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

32
# Description HPO Frequency HPO Source Accession
1 abnormal autonomic nervous system physiology 32 frequent (33%) HP:0012332
2 pain 32 HP:0012531

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

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

Articles related to Episodic Pain Syndrome, Familial, 3:

(show all 18)
# Title Authors PMID Year
1
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. 8 71
24776970 2014
2
Gain-of-function mutations in SCN11A cause familial episodic pain. 8 71
24207120 2013
3
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 8
21698661 2012
4
A facile synthesis of FePS3@C nanocomposites and their enhanced performance in lithium-ion batteries. 38
30806388 2019
5
High-Yield Production of Monolayer FePS3 Quantum Sheets via Chemical Exfoliation for Efficient Photocatalytic Hydrogen Evolution. 38
29782672 2018
6
Bias-switchable negative and positive photoconductivity in 2D FePS3 ultraviolet photodetectors. 38
29582784 2018
7
Exfoliation of ultrathin FePS3 layers as a promising electrocatalyst for the oxygen evolution reaction. 38
29658552 2018
8
Ising-Type Magnetic Ordering in Atomically Thin FePS3. 38
27960508 2016
9
Distinctive in-Plane Cleavage Behaviors of Two-Dimensional Layered Materials. 38
27564525 2016
10
Weak Van der Waals Stacking, Wide-Range Band Gap, and Raman Study on Ultrathin Layers of Metal Phosphorus Trichalcogenides. 38
26607168 2016
11
The magnon dynamics and spin exchange parameters of FePS3. 38
23006615 2012
12
Effects of lithium intercalation on the electronic properties of FePS3 single crystals. 38
9983150 1996
13
Delocalization of the Fe 3d levels in the quasi-two-dimensional correlated insulator FePS3. 38
9975880 1994
14
Amine intercalation in FePS3: A 57Fe Mössbauer study. 38
10011510 1994
15
Light-scattering study of dynamical behavior of antiferromagnetic spins in the layered magnetic semiconductor FePS3. 38
9995012 1990
16
Conduction processes in the layered semiconductor compound FePS3. 38
9995599 1990
17
Lattice dynamics of lithium intercalated FePS3 compounds. 38
9946143 1988
18
Raman scattering in antiferromagnetic FePS3 and FePSe3 crystals. 38
9940970 1987

Variations for Episodic Pain Syndrome, Familial, 3

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

6 (show top 50) (show all 235)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A): c.1142T> C (p.Ile381Thr) single nucleotide variant Pathogenic rs606231280 3:38950645-38950645 3:38909154-38909154
2 SCN11A NM_001349253.2(SCN11A): c.673C> T (p.Arg225Cys) single nucleotide variant Pathogenic rs138607170 3:38966945-38966945 3:38925454-38925454
3 SCN11A NM_001349253.2(SCN11A): c.2423C> G (p.Ala808Gly) single nucleotide variant Pathogenic rs483352921 3:38936436-38936436 3:38894945-38894945
4 SCN11A NM_001349253.2(SCN11A): c.3473T> C (p.Leu1158Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs141686175 3:38913706-38913706 3:38872215-38872215
5 SCN11A NM_001349253.2(SCN11A): c.1220A> G (p.Asn407Ser) single nucleotide variant Uncertain significance rs375513048 3:38950567-38950567 3:38909076-38909076
6 SCN11A NM_001349253.2(SCN11A): c.891T> C (p.Tyr297=) single nucleotide variant Uncertain significance rs1553640799 3:38962568-38962568 3:38921077-38921077
7 SCN11A NM_001349253.2(SCN11A): c.331A> G (p.Ile111Val) single nucleotide variant Uncertain significance rs1303641495 3:38988335-38988335 3:38946844-38946844
8 SCN11A NM_001349253.2(SCN11A): c.713-2A> G single nucleotide variant Uncertain significance rs779935698 3:38962748-38962748 3:38921257-38921257
9 SCN11A NM_001349253.2(SCN11A): c.344_346delinsG (p.Phe115_Asn116delinsTer) indel Uncertain significance rs1553644026 3:38988320-38988322 3:38946829-38946831
10 SCN11A NM_001349253.2(SCN11A): c.143C> G (p.Pro48Arg) single nucleotide variant Uncertain significance rs138704917 3:38991711-38991711 3:38950220-38950220
11 SCN11A NM_001349253.2(SCN11A): c.102A> G (p.Gln34=) single nucleotide variant Uncertain significance rs778597965 3:38991752-38991752 3:38950261-38950261
12 SCN11A NM_001349253.2(SCN11A): c.4973G> A (p.Arg1658His) single nucleotide variant Uncertain significance rs141457896 3:38888588-38888588 3:38847097-38847097
13 SCN11A NM_001349253.2(SCN11A): c.4685G> A (p.Arg1562Gln) single nucleotide variant Uncertain significance rs771220857 3:38888876-38888876 3:38847385-38847385
14 SCN11A NM_001349253.2(SCN11A): c.4282G> A (p.Gly1428Ser) single nucleotide variant Uncertain significance rs201336927 3:38892017-38892017 3:38850526-38850526
15 SCN11A NM_001349253.2(SCN11A): c.2085C> T (p.Gly695=) single nucleotide variant Uncertain significance rs1033558330 3:38938654-38938654 3:38897163-38897163
16 SCN11A NM_001349253.2(SCN11A): c.2083G> A (p.Gly695Ser) single nucleotide variant Uncertain significance rs553388188 3:38938656-38938656 3:38897165-38897165
17 SCN11A NM_001349253.2(SCN11A): c.1986A> G (p.Gln662=) single nucleotide variant Uncertain significance rs746550786 3:38941421-38941421 3:38899930-38899930
18 SCN11A NM_001349253.2(SCN11A): c.1483del (p.Leu494_Leu495insTer) deletion Uncertain significance rs763788482 3:38946803-38946803 3:38905312-38905312
19 SCN11A NM_001349253.2(SCN11A): c.3840C> A (p.Ser1280Arg) single nucleotide variant Uncertain significance rs144377677 3:38908923-38908923 3:38867432-38867432
20 SCN11A NM_001349253.2(SCN11A): c.2744G> T (p.Trp915Leu) single nucleotide variant Uncertain significance rs1553636827 3:38936115-38936115 3:38894624-38894624
21 SCN11A NM_001349253.2(SCN11A): c.1591A> G (p.Ile531Val) single nucleotide variant Uncertain significance rs1553638792 3:38946695-38946695 3:38905204-38905204
22 SCN11A NM_001349253.2(SCN11A): c.3496-5A> G single nucleotide variant Uncertain significance rs370779865 3:38913204-38913204 3:38871713-38871713
23 SCN11A NM_001349253.2(SCN11A): c.3440G> A (p.Arg1147Gln) single nucleotide variant Uncertain significance rs533830451 3:38913739-38913739 3:38872248-38872248
24 SCN11A NM_001349253.2(SCN11A): c.3064G> T (p.Gly1022Cys) single nucleotide variant Uncertain significance rs144070491 3:38926779-38926779 3:38885288-38885288
25 SCN11A NM_001349253.2(SCN11A): c.2458A> T (p.Asn820Tyr) single nucleotide variant Uncertain significance rs148401428 3:38936401-38936401 3:38894910-38894910
26 SCN11A NM_001349253.2(SCN11A): c.2345_2347CAT[3] (p.Ser785del) short repeat Uncertain significance rs757197374 3:38938383-38938385 3:38896892-38896894
27 SCN11A NM_001349253.2(SCN11A): c.1863A> G (p.Ile621Met) single nucleotide variant Uncertain significance rs370738551 3:38941544-38941544 3:38900053-38900053
28 SCN11A NM_001349253.2(SCN11A): c.1729C> T (p.Pro577Ser) single nucleotide variant Uncertain significance rs1174559334 3:38945469-38945469 3:38903978-38903978
29 SCN11A NM_001349253.2(SCN11A): c.3014G> A (p.Trp1005Ter) single nucleotide variant Uncertain significance rs41285132 3:38926829-38926829 3:38885338-38885338
30 SCN11A NM_001349253.2(SCN11A): c.5312A> G (p.Gln1771Arg) single nucleotide variant Uncertain significance rs773726638 3:38888249-38888249 3:38846758-38846758
31 SCN11A NM_001349253.2(SCN11A): c.5215A> G (p.Ile1739Val) single nucleotide variant Uncertain significance rs759827115 3:38888346-38888346 3:38846855-38846855
32 SCN11A NM_001349253.2(SCN11A): c.4478C> T (p.Ser1493Leu) single nucleotide variant Uncertain significance rs374311646 3:38889083-38889083 3:38847592-38847592
33 SCN11A NM_001349253.2(SCN11A): c.1330T> C (p.Ser444Pro) single nucleotide variant Uncertain significance rs1553639316 3:38949583-38949583 3:38908092-38908092
34 SCN11A NM_001349253.2(SCN11A): c.5125_5126GA[3] (p.Lys1710fs) short repeat Uncertain significance rs1553630088 3:38888433-38888434 3:38846942-38846943
35 SCN11A NM_001349253.2(SCN11A): c.3788T> C (p.Ile1263Thr) single nucleotide variant Uncertain significance rs781009540 3:38912207-38912207 3:38870716-38870716
36 SCN11A NM_001349253.2(SCN11A): c.3689A> G (p.Asn1230Ser) single nucleotide variant Uncertain significance rs765543089 3:38913006-38913006 3:38871515-38871515
37 SCN11A NM_001349253.2(SCN11A): c.2641A> G (p.Ile881Val) single nucleotide variant Uncertain significance rs376275036 3:38936218-38936218 3:38894727-38894727
38 SCN11A NM_001349253.2(SCN11A): c.2576G> A (p.Arg859Lys) single nucleotide variant Uncertain significance rs539550341 3:38936283-38936283 3:38894792-38894792
39 SCN11A NM_001349253.2(SCN11A): c.2513G> A (p.Arg838Gln) single nucleotide variant Uncertain significance rs149681198 3:38936346-38936346 3:38894855-38894855
40 SCN11A NM_001349253.2(SCN11A): c.2254G> A (p.Gly752Arg) single nucleotide variant Uncertain significance rs1173970901 3:38938485-38938485 3:38896994-38896994
41 SCN11A NM_001349253.2(SCN11A): c.1744G> A (p.Ala582Thr) single nucleotide variant Uncertain significance rs141228634 3:38945454-38945454 3:38903963-38903963
42 SCN11A NM_001349253.2(SCN11A): c.1588A> G (p.Thr530Ala) single nucleotide variant Uncertain significance rs1553638793 3:38946698-38946698 3:38905207-38905207
43 SCN11A NM_001349253.2(SCN11A): c.88C> T (p.Arg30Trp) single nucleotide variant Uncertain significance rs761199291 3:38991766-38991766 3:38950275-38950275
44 SCN11A NM_001349253.2(SCN11A): c.5086G> A (p.Gly1696Ser) single nucleotide variant Uncertain significance rs376206288 3:38888475-38888475 3:38846984-38846984
45 SCN11A NM_001349253.2(SCN11A): c.4607C> T (p.Thr1536Ile) single nucleotide variant Uncertain significance rs766122411 3:38888954-38888954 3:38847463-38847463
46 SCN11A NM_001349253.2(SCN11A): c.5135T> C (p.Met1712Thr) single nucleotide variant Uncertain significance 3:38888426-38888426 3:38846935-38846935
47 SCN11A NM_001349253.2(SCN11A): c.5083G> A (p.Gly1695Ser) single nucleotide variant Uncertain significance 3:38888478-38888478 3:38846987-38846987
48 SCN11A NM_001349253.2(SCN11A): c.5071G> A (p.Ala1691Thr) single nucleotide variant Uncertain significance 3:38888490-38888490 3:38846999-38846999
49 SCN11A NM_001349253.2(SCN11A): c.4178C> A (p.Ala1393Asp) single nucleotide variant Uncertain significance 3:38892121-38892121 3:38850630-38850630
50 SCN11A NM_001349253.2(SCN11A): c.2654T> C (p.Met885Thr) single nucleotide variant Uncertain significance 3:38936205-38936205 3:38894714-38894714

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

74
# 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 rs123062289
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

Expression for Episodic Pain Syndrome, Familial, 3

Search GEO for disease gene expression data for Episodic Pain Syndrome, Familial, 3.

Pathways for Episodic Pain Syndrome, Familial, 3

GO Terms for Episodic Pain Syndrome, Familial, 3

Sources for Episodic Pain Syndrome, Familial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....