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 56 73 29 6 71
Feps3 56 73
Familial Episodic Pain Syndrome with Predominantly Lower Limb Involvement 58

Characteristics:

Orphanet epidemiological data:

58
familial episodic pain syndrome with predominantly lower limb involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
episodic pain syndrome, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 615552
OMIM Phenotypic Series 56 PS615040
MeSH 43 D010146
ICD10 via Orphanet 33 M79.6
Orphanet 58 ORPHA391392
SNOMED-CT via HPO 68 22253000 263681008
UMLS 71 C3809899

Summaries for Episodic Pain Syndrome, Familial, 3

OMIM : 56 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 : 73 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 10.6
2 triiodothyronine receptor auxiliary protein 10.2

Symptoms & Phenotypes for Episodic Pain Syndrome, Familial, 3

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

31
# Description HPO Frequency HPO Source Accession
1 abnormal autonomic nervous system physiology 31 frequent (33%) HP:0012332
2 pain 31 HP:0012531

Symptoms via clinical synopsis from OMIM:

56
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 22)
# Title Authors PMID Year
1
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. 56 6
24776970 2014
2
Gain-of-function mutations in SCN11A cause familial episodic pain. 56 6
24207120 2013
3
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 56
21698661 2012
4
Phonon and Thermal Properties of Quasi-Two-Dimensional FePS3 and MnPS3 Antiferromagnetic Semiconductors. 61
31951116 2020
5
Hermetically encapsulating sulfur by FePS3 flakes for high-performance lithium sulfur batteries. 61
31848538 2020
6
Surface modification of multilayer FePS3 by Ga ion irradiation. 61
31645643 2019
7
A facile synthesis of FePS3@C nanocomposites and their enhanced performance in lithium-ion batteries. 61
30806388 2019
8
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain. 61
31551682 2019
9
Bias-switchable negative and positive photoconductivity in 2D FePS3 ultraviolet photodetectors. 61
29582784 2018
10
High-Yield Production of Monolayer FePS3 Quantum Sheets via Chemical Exfoliation for Efficient Photocatalytic Hydrogen Evolution. 61
29782672 2018
11
Exfoliation of ultrathin FePS3 layers as a promising electrocatalyst for the oxygen evolution reaction. 61
29658552 2018
12
Ising-Type Magnetic Ordering in Atomically Thin FePS3. 61
27960508 2016
13
Distinctive in-Plane Cleavage Behaviors of Two-Dimensional Layered Materials. 61
27564525 2016
14
Weak Van der Waals Stacking, Wide-Range Band Gap, and Raman Study on Ultrathin Layers of Metal Phosphorus Trichalcogenides. 61
26607168 2016
15
The magnon dynamics and spin exchange parameters of FePS3. 61
23006615 2012
16
Effects of lithium intercalation on the electronic properties of FePS3 single crystals. 61
9983150 1996
17
Delocalization of the Fe 3d levels in the quasi-two-dimensional correlated insulator FePS3. 61
9975880 1994
18
Amine intercalation in FePS3: A 57Fe Mössbauer study. 61
10011510 1994
19
Light-scattering study of dynamical behavior of antiferromagnetic spins in the layered magnetic semiconductor FePS3. 61
9995012 1990
20
Conduction processes in the layered semiconductor compound FePS3. 61
9995599 1990
21
Lattice dynamics of lithium intercalated FePS3 compounds. 61
9946143 1988
22
Raman scattering in antiferromagnetic FePS3 and FePSe3 crystals. 61
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 187) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr)SNV Pathogenic 157600 rs606231280 3:38950645-38950645 3:38909154-38909154
2 SCN11A NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys)SNV Pathogenic 69850 rs138607170 3:38966945-38966945 3:38925454-38925454
3 SCN11A NM_001349253.2(SCN11A):c.2423C>G (p.Ala808Gly)SNV Pathogenic 89013 rs483352921 3:38936436-38936436 3:38894945-38894945
4 SCN11A NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=)SNV Conflicting interpretations of pathogenicity 541551 rs746550786 3:38941421-38941421 3:38899930-38899930
5 SCN11A NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro)SNV Conflicting interpretations of pathogenicity 157599 rs141686175 3:38913706-38913706 3:38872215-38872215
6 SCN11A NM_001349253.2(SCN11A):c.4607C>T (p.Thr1536Ile)SNV Uncertain significance 541560 rs766122411 3:38888954-38888954 3:38847463-38847463
7 SCN11A NM_001349253.2(SCN11A):c.2085C>T (p.Gly695=)SNV Uncertain significance 541561 rs1033558330 3:38938654-38938654 3:38897163-38897163
8 SCN11A NM_001349253.2(SCN11A):c.2083G>A (p.Gly695Ser)SNV Uncertain significance 541579 rs553388188 3:38938656-38938656 3:38897165-38897165
9 SCN11A NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer)deletion Uncertain significance 541557 rs763788482 3:38946803-38946803 3:38905312-38905312
10 SCN11A NM_001349253.2(SCN11A):c.713-2A>GSNV Uncertain significance 541580 rs779935698 3:38962748-38962748 3:38921257-38921257
11 SCN11A NM_001349253.2(SCN11A):c.344_346delinsG (p.Phe115_Asn116delinsTer)indel Uncertain significance 541576 rs1553644026 3:38988320-38988322 3:38946829-38946831
12 SCN11A NM_001349253.2(SCN11A):c.102A>G (p.Gln34=)SNV Uncertain significance 541556 rs778597965 3:38991752-38991752 3:38950261-38950261
13 SCN11A NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His)SNV Uncertain significance 541569 rs141457896 3:38888588-38888588 3:38847097-38847097
14 SCN11A NM_001349253.2(SCN11A):c.4685G>A (p.Arg1562Gln)SNV Uncertain significance 541549 rs771220857 3:38888876-38888876 3:38847385-38847385
15 SCN11A NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser)SNV Uncertain significance 541573 rs201336927 3:38892017-38892017 3:38850526-38850526
16 SCN11A NM_001349253.2(SCN11A):c.3840C>A (p.Ser1280Arg)SNV Uncertain significance 541565 rs144377677 3:38908923-38908923 3:38867432-38867432
17 SCN11A NM_001349253.2(SCN11A):c.2744G>T (p.Trp915Leu)SNV Uncertain significance 541566 rs1553636827 3:38936115-38936115 3:38894624-38894624
18 SCN11A NM_001349253.2(SCN11A):c.1730C>T (p.Pro577Leu)SNV Uncertain significance 425292 rs374524879 3:38945468-38945468 3:38903977-38903977
19 SCN11A NM_001349253.2(SCN11A):c.180G>T (p.Arg60Ser)SNV Uncertain significance 450384 rs149547996 3:38991674-38991674 3:38950183-38950183
20 SCN11A NM_001349253.2(SCN11A):c.4284C>T (p.Gly1428=)SNV Uncertain significance 474726 rs1415789103 3:38892015-38892015 3:38850524-38850524
21 SCN11A NM_001349253.2(SCN11A):c.3877A>G (p.Ile1293Val)SNV Uncertain significance 474724 rs761590329 3:38908886-38908886 3:38867395-38867395
22 SCN11A NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly)SNV Uncertain significance 474715 rs373403886 3:38926850-38926850 3:38885359-38885359
23 SCN11A NM_001349253.2(SCN11A):c.3496-5A>GSNV Uncertain significance 541567 rs370779865 3:38913204-38913204 3:38871713-38871713
24 SCN11A NM_001349253.2(SCN11A):c.3440G>A (p.Arg1147Gln)SNV Uncertain significance 541571 rs533830451 3:38913739-38913739 3:38872248-38872248
25 SCN11A NM_001349253.2(SCN11A):c.3064G>T (p.Gly1022Cys)SNV Uncertain significance 541564 rs144070491 3:38926779-38926779 3:38885288-38885288
26 SCN11A NM_001349253.2(SCN11A):c.2458A>T (p.Asn820Tyr)SNV Uncertain significance 541568 rs148401428 3:38936401-38936401 3:38894910-38894910
27 SCN11A NM_001349253.2(SCN11A):c.2345_2347CAT[3] (p.Ser785del)short repeat Uncertain significance 541572 rs757197374 3:38938383-38938385 3:38896892-38896894
28 SCN11A NM_001349253.2(SCN11A):c.1863A>G (p.Ile621Met)SNV Uncertain significance 541578 rs370738551 3:38941544-38941544 3:38900053-38900053
29 SCN11A NM_001349253.2(SCN11A):c.1729C>T (p.Pro577Ser)SNV Uncertain significance 541559 rs1174559334 3:38945469-38945469 3:38903978-38903978
30 SCN11A NM_001349253.2(SCN11A):c.1330T>C (p.Ser444Pro)SNV Uncertain significance 541563 rs1553639316 3:38949583-38949583 3:38908092-38908092
31 SCN11A NM_001349253.2(SCN11A):c.5125_5126GA[3] (p.Lys1710fs)short repeat Uncertain significance 541554 rs1553630088 3:38888432-38888433 3:38846941-38846942
32 SCN11A NM_001349253.2(SCN11A):c.3788T>C (p.Ile1263Thr)SNV Uncertain significance 541550 rs781009540 3:38912207-38912207 3:38870716-38870716
33 SCN11A NM_001349253.2(SCN11A):c.3689A>G (p.Asn1230Ser)SNV Uncertain significance 541552 rs765543089 3:38913006-38913006 3:38871515-38871515
34 SCN11A NM_001349253.2(SCN11A):c.2641A>G (p.Ile881Val)SNV Uncertain significance 541562 rs376275036 3:38936218-38936218 3:38894727-38894727
35 SCN11A NM_001349253.2(SCN11A):c.2576G>A (p.Arg859Lys)SNV Uncertain significance 541548 rs539550341 3:38936283-38936283 3:38894792-38894792
36 SCN11A NM_001349253.2(SCN11A):c.2513G>A (p.Arg838Gln)SNV Uncertain significance 541570 rs149681198 3:38936346-38936346 3:38894855-38894855
37 SCN11A NM_001349253.2(SCN11A):c.2254G>A (p.Gly752Arg)SNV Uncertain significance 541586 rs1173970901 3:38938485-38938485 3:38896994-38896994
38 SCN11A NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)SNV Uncertain significance 541582 rs141228634 3:38945454-38945454 3:38903963-38903963
39 SCN11A NM_001349253.2(SCN11A):c.617+1G>ASNV Uncertain significance 474750 rs754708932 3:38968293-38968293 3:38926802-38926802
40 SCN11A NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs)duplication Uncertain significance 474737 rs780673867 3:38968409-38968410 3:38926918-38926919
41 SCN11A NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter)SNV Uncertain significance 488927 rs41285132 3:38926829-38926829 3:38885338-38885338
42 SCN11A NM_001349253.2(SCN11A):c.5312A>G (p.Gln1771Arg)SNV Uncertain significance 541558 rs773726638 3:38888249-38888249 3:38846758-38846758
43 SCN11A NM_001349253.2(SCN11A):c.5215A>G (p.Ile1739Val)SNV Uncertain significance 541583 rs759827115 3:38888346-38888346 3:38846855-38846855
44 SCN11A NM_001349253.2(SCN11A):c.4478C>T (p.Ser1493Leu)SNV Uncertain significance 541553 rs374311646 3:38889083-38889083 3:38847592-38847592
45 SCN11A NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val)SNV Uncertain significance 474698 rs200800847 3:38941480-38941480 3:38899989-38899989
46 SCN11A NM_001349253.2(SCN11A):c.1043_1045dup (p.Ser348dup)duplication Uncertain significance 474684 rs1364760343 3:38951612-38951613 3:38910121-38910122
47 SCN11A NM_001349253.2(SCN11A):c.1588A>G (p.Thr530Ala)SNV Uncertain significance 541585 rs1553638793 3:38946698-38946698 3:38905207-38905207
48 SCN11A NM_001349253.2(SCN11A):c.88C>T (p.Arg30Trp)SNV Uncertain significance 541547 rs761199291 3:38991766-38991766 3:38950275-38950275
49 SCN11A NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg)SNV Uncertain significance 474730 rs1553630322 3:38888957-38888957 3:38847466-38847466
50 SCN11A NM_001349253.2(SCN11A):c.3724A>G (p.Asn1242Asp)SNV Uncertain significance 474722 rs769151002 3:38912971-38912971 3:38871480-38871480

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

73
# 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

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