FEPS3
MCID: EPS028
MIFTS: 41

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 73 29 6 71
Feps3 57 12 73
Familial Episodic Pain Syndrome 3 12 15
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®:

57 (Updated 05-Mar-2021)
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:

Disease Ontology 12 DOID:0111731
OMIM® 57 615552
OMIM Phenotypic Series 57 PS615040
MeSH 44 D010146
NCIt 50 C125390
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® : 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) (Updated 05-Mar-2021)

MalaCards based summary : Episodic Pain Syndrome, Familial, 3, also known as feps3, is related to familial episodic pain syndrome and neuropathy, hereditary sensory and autonomic, type vii. An important gene associated with Episodic Pain Syndrome, Familial, 3 is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11), and among its related pathways/superpathways are Developmental Biology and G-Beta Gamma Signaling. Related phenotypes are abnormal autonomic nervous system physiology and pain

Disease Ontology : 12 A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has material basis in heterozygous mutation in the SCN11A gene on chromosome 3p22.

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:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 familial episodic pain syndrome 29.6 SCN9A SCN11A SCN10A COPS3
2 neuropathy, hereditary sensory and autonomic, type vii 10.1 SCN3A SCN11A
3 progressive familial heart block 10.0 SCN3A NAV1
4 generalized epilepsy with febrile seizures plus, type 2 10.0 SCN9A SCN11A
5 triiodothyronine receptor auxiliary protein 9.9
6 electroclinical syndrome 9.9 SCN9A SCN3A
7 hyperkalemic periodic paralysis 9.9 SCN9A NAV1
8 progressive familial heart block, type ia 9.9 SCN9A SCN3A
9 paramyotonia congenita of von eulenburg 9.9 SCN9A NAV1
10 sensory peripheral neuropathy 9.9 SCN9A SCN11A
11 autonomic neuropathy 9.8 SCN9A SCN11A
12 benign familial infantile epilepsy 9.8 SCN9A SCN3A
13 familial febrile seizures 9.8 SCN9A SCN3A
14 brugada syndrome 1 9.7 SCN9A SCN10A
15 epilepsy, idiopathic generalized 9.7 SCN9A SCN3A SCN11A
16 pain agnosia 9.7 SCN9A SCN10A
17 agnosia 9.7 SCN9A SCN10A
18 migraine, familial hemiplegic, 3 9.7 SCN9A SCN3A NAV1
19 lennox-gastaut syndrome 9.7 SCN9A SCN3A
20 neonatal period electroclinical syndrome 9.7 SCN9A SCN3A NAV1
21 west syndrome 9.6 SCN3A SCN11A SCN10A
22 indifference to pain, congenital, autosomal recessive 9.6 SCN9A SCN11A SCN10A
23 causalgia 9.6 SCN9A SCN11A SCN10A
24 sodium channelopathy-related small fiber neuropathy 9.6 SCN9A SCN11A SCN10A
25 early myoclonic encephalopathy 9.6 SCN9A SCN3A
26 neuropathy 9.6 SCN9A SCN11A SCN10A
27 erythermalgia, primary 9.6 SCN9A SCN11A SCN10A
28 peripheral nervous system disease 9.5 SCN9A SCN11A SCN10A
29 episodic pain syndrome, familial, 2 9.3 SCN9A SCN3A SCN11A SCN10A
30 trigeminal nerve disease 9.3 SCN9A SCN3A SCN11A SCN10A
31 trigeminal neuralgia 9.3 SCN9A SCN3A SCN11A SCN10A
32 somatoform disorder 9.3 SCN9A SCN3A SCN11A SCN10A
33 migraine with or without aura 1 9.3 SCN9A SCN3A SCN11A SCN10A
34 autonomic nervous system disease 9.1 SCN9A SCN3A SCN11A SCN10A NAV1
35 erythromelalgia 9.1 SCN9A SCN3A SCN11A SCN10A NAV1
36 paroxysmal extreme pain disorder 9.1 SCN9A SCN3A SCN11A SCN10A NAV1
37 paine syndrome 9.1 SCN9A SCN3A SCN11A SCN10A NAV1
38 generalized epilepsy with febrile seizures plus 9.1 SCN9A SCN3A SCN11A SCN10A NAV1
39 dravet syndrome 9.1 SCN9A SCN3A SCN11A SCN10A NAV1
40 brugada syndrome 9.1 SCN9A SCN3A SCN11A SCN10A NAV1
41 early infantile epileptic encephalopathy 9.0 SCN9A SCN3A SCN11A SCN10A NAV1
42 disease of mental health 9.0 SCN9A SCN3A SCN11A SCN10A NAV1

Graphical network of the top 20 diseases related to Episodic Pain Syndrome, Familial, 3:



Diseases related to Episodic Pain Syndrome, Familial, 3

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 24)
# Title Authors PMID Year
1
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. 57 6
24776970 2014
2
Gain-of-function mutations in SCN11A cause familial episodic pain. 6 57
24207120 2013
3
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 57
21698661 2012
4
Cobalt doping of FePS3 promotes intrinsic active sites for the efficient hydrogen evolution reaction. 61
32618322 2020
5
Origin of pressure-induced insulator-to-metal transition in the van der Waals compound FePS3 from first-principles calculations. 61
32091135 2020
6
Phonon and Thermal Properties of Quasi-Two-Dimensional FePS3 and MnPS3 Antiferromagnetic Semiconductors. 61
31951116 2020
7
Hermetically encapsulating sulfur by FePS3 flakes for high-performance lithium sulfur batteries. 61
31848538 2020
8
Surface modification of multilayer FePS3 by Ga ion irradiation. 61
31645643 2019
9
A facile synthesis of FePS3@C nanocomposites and their enhanced performance in lithium-ion batteries. 61
30806388 2019
10
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain. 61
31551682 2019
11
Bias-switchable negative and positive photoconductivity in 2D FePS3 ultraviolet photodetectors. 61
29582784 2018
12
High-Yield Production of Monolayer FePS3 Quantum Sheets via Chemical Exfoliation for Efficient Photocatalytic Hydrogen Evolution. 61
29782672 2018
13
Exfoliation of ultrathin FePS3 layers as a promising electrocatalyst for the oxygen evolution reaction. 61
29658552 2018
14
Ising-Type Magnetic Ordering in Atomically Thin FePS3. 61
27960508 2016
15
Distinctive in-Plane Cleavage Behaviors of Two-Dimensional Layered Materials. 61
27564525 2016
16
Weak Van der Waals Stacking, Wide-Range Band Gap, and Raman Study on Ultrathin Layers of Metal Phosphorus Trichalcogenides. 61
26607168 2016
17
The magnon dynamics and spin exchange parameters of FePS3. 61
23006615 2012
18
Effects of lithium intercalation on the electronic properties of FePS3 single crystals. 61
9983150 1996
19
Delocalization of the Fe 3d levels in the quasi-two-dimensional correlated insulator FePS3. 61
9975880 1994
20
Amine intercalation in FePS3: A 57Fe Mössbauer study. 61
10011510 1994
21
Light-scattering study of dynamical behavior of antiferromagnetic spins in the layered magnetic semiconductor FePS3. 61
9995012 1990
22
Conduction processes in the layered semiconductor compound FePS3. 61
9995599 1990
23
Lattice dynamics of lithium intercalated FePS3 compounds. 61
9946143 1988
24
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 374)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A):c.2423C>G (p.Ala808Gly) SNV Pathogenic 89013 rs483352921 3:38936436-38936436 3:38894945-38894945
2 SCN11A NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr) SNV Pathogenic 157600 rs606231280 3:38950645-38950645 3:38909154-38909154
3 SCN11A NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys) SNV Pathogenic 69850 rs138607170 3:38966945-38966945 3:38925454-38925454
4 SCN11A NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys) SNV Pathogenic 69850 rs138607170 3:38966945-38966945 3:38925454-38925454
5 SCN11A NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) SNV Pathogenic 157599 rs141686175 3:38913706-38913706 3:38872215-38872215
6 SCN11A NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=) SNV Conflicting interpretations of pathogenicity 541551 rs746550786 3:38941421-38941421 3:38899930-38899930
7 SCN11A NM_001349253.2(SCN11A):c.4931C>T (p.Ser1644Phe) SNV Uncertain significance 640981 rs1575200941 3:38888630-38888630 3:38847139-38847139
8 SCN11A NM_001349253.2(SCN11A):c.5306C>T (p.Pro1769Leu) SNV Uncertain significance 641428 rs751901471 3:38888255-38888255 3:38846764-38846764
9 SCN11A NM_001349253.2(SCN11A):c.5242A>G (p.Met1748Val) SNV Uncertain significance 641460 rs780051659 3:38888319-38888319 3:38846828-38846828
10 SCN11A NM_001349253.2(SCN11A):c.5036G>A (p.Arg1679His) SNV Uncertain significance 641532 rs769083302 3:38888525-38888525 3:38847034-38847034
11 SCN11A NM_001349253.2(SCN11A):c.5084G>A (p.Gly1695Asp) SNV Uncertain significance 641838 rs199777850 3:38888477-38888477 3:38846986-38846986
12 SCN11A NM_001349253.2(SCN11A):c.4646C>T (p.Thr1549Ile) SNV Uncertain significance 642222 rs368803726 3:38888915-38888915 3:38847424-38847424
13 SCN11A NM_001349253.2(SCN11A):c.1842G>A (p.Leu614=) SNV Uncertain significance 642771 rs1368701003 3:38945356-38945356 3:38903865-38903865
14 SCN11A NM_001349253.2(SCN11A):c.3421A>G (p.Met1141Val) SNV Uncertain significance 644563 rs778367426 3:38913758-38913758 3:38872267-38872267
15 SCN11A NM_001349253.2(SCN11A):c.2109C>G (p.Ser703Arg) SNV Uncertain significance 644628 rs746649203 3:38938630-38938630 3:38897139-38897139
16 SCN11A NM_001349253.2(SCN11A):c.4966C>G (p.Pro1656Ala) SNV Uncertain significance 644943 rs757777457 3:38888595-38888595 3:38847104-38847104
17 SCN11A NM_001349253.2(SCN11A):c.4327+2T>G SNV Uncertain significance 646301 rs1271092061 3:38891970-38891970 3:38850479-38850479
18 SCN11A NM_001349253.2(SCN11A):c.2381T>C (p.Ile794Thr) SNV Uncertain significance 646926 rs147636808 3:38938358-38938358 3:38896867-38896867
19 SCN11A NM_001349253.2(SCN11A):c.261T>A (p.Asn87Lys) SNV Uncertain significance 647695 rs1575328552 3:38991593-38991593 3:38950102-38950102
20 SCN11A NM_001349253.2(SCN11A):c.854C>T (p.Ser285Leu) SNV Uncertain significance 648412 rs765170928 3:38962605-38962605 3:38921114-38921114
21 SCN11A NM_001349253.2(SCN11A):c.364G>A (p.Ala122Thr) SNV Uncertain significance 648476 rs1559549759 3:38988302-38988302 3:38946811-38946811
22 SCN11A NM_001349253.2(SCN11A):c.3449G>T (p.Arg1150Leu) SNV Uncertain significance 648481 rs951508265 3:38913730-38913730 3:38872239-38872239
23 SCN11A NM_001349253.2(SCN11A):c.5015T>C (p.Leu1672Ser) SNV Uncertain significance 648557 rs773317280 3:38888546-38888546 3:38847055-38847055
24 SCN11A NM_001349253.2(SCN11A):c.3118G>A (p.Val1040Ile) SNV Uncertain significance 649101 rs1575242633 3:38924825-38924825 3:38883334-38883334
25 SCN11A NM_001349253.2(SCN11A):c.2596C>T (p.Gln866Ter) SNV Uncertain significance 649584 rs768683402 3:38936263-38936263 3:38894772-38894772
26 SCN11A NM_001349253.2(SCN11A):c.367A>G (p.Ile123Val) SNV Uncertain significance 649992 rs899219448 3:38988299-38988299 3:38946808-38946808
27 SCN11A NM_001349253.2(SCN11A):c.2395A>G (p.Lys799Glu) SNV Uncertain significance 650547 rs914965285 3:38938344-38938344 3:38896853-38896853
28 SCN11A NM_001349253.2(SCN11A):c.2008C>G (p.Arg670Gly) SNV Uncertain significance 650692 rs760681852 3:38941399-38941399 3:38899908-38899908
29 SCN11A NM_001349253.2(SCN11A):c.2776G>A (p.Val926Ile) SNV Uncertain significance 651318 rs759255427 3:38936083-38936083 3:38894592-38894592
30 SCN11A NM_001349253.2(SCN11A):c.2912A>C (p.Glu971Ala) SNV Uncertain significance 652101 rs1575246793 3:38927653-38927653 3:38886162-38886162
31 SCN11A NM_001349253.2(SCN11A):c.4397G>A (p.Arg1466His) SNV Uncertain significance 653037 rs143014764 3:38889164-38889164 3:38847673-38847673
32 SCN11A NM_001349253.2(SCN11A):c.1019C>T (p.Thr340Met) SNV Uncertain significance 653720 rs776207910 3:38951639-38951639 3:38910148-38910148
33 SCN11A NM_001349253.2(SCN11A):c.2661G>A (p.Met887Ile) SNV Uncertain significance 653821 rs570749658 3:38936198-38936198 3:38894707-38894707
34 SCN11A NM_001349253.2(SCN11A):c.3132C>A (p.Asn1044Lys) SNV Uncertain significance 655047 rs35693485 3:38924811-38924811 3:38883320-38883320
35 SCN11A NM_001349253.2(SCN11A):c.516del (p.Phe172fs) Deletion Uncertain significance 655192 rs1575301323 3:38968395-38968395 3:38926904-38926904
36 SCN11A NM_001349253.2(SCN11A):c.1602G>T (p.Lys534Asn) SNV Uncertain significance 657746 rs1575273371 3:38946684-38946684 3:38905193-38905193
37 SCN11A NM_001349253.2(SCN11A):c.3631A>G (p.Thr1211Ala) SNV Uncertain significance 657968 rs1186618940 3:38913064-38913064 3:38871573-38871573
38 SCN11A NM_001349253.2(SCN11A):c.1934A>G (p.Asp645Gly) SNV Uncertain significance 658062 rs988402656 3:38941473-38941473 3:38899982-38899982
39 SCN11A NM_001349253.2(SCN11A):c.2521C>T (p.Arg841Trp) SNV Uncertain significance 660238 rs184088468 3:38936338-38936338 3:38894847-38894847
40 SCN11A NM_001349253.2(SCN11A):c.3391_3393+7del Deletion Uncertain significance 660349 rs757147946 3:38921434-38921443 3:38879943-38879952
41 SCN11A NM_001349253.2(SCN11A):c.1403C>A (p.Ser468Tyr) SNV Uncertain significance 660988 rs757798778 3:38949510-38949510 3:38908019-38908019
42 SCN11A NM_001349253.2(SCN11A):c.2474G>A (p.Gly825Glu) SNV Uncertain significance 661143 rs1192118831 3:38936385-38936385 3:38894894-38894894
43 SCN11A NM_001349253.2(SCN11A):c.3736G>T (p.Ala1246Ser) SNV Uncertain significance 661980 rs778454820 3:38912959-38912959 3:38871468-38871468
44 SCN11A NM_001349253.2(SCN11A):c.4441C>T (p.Arg1481Ter) SNV Uncertain significance 662313 rs150141467 3:38889120-38889120 3:38847629-38847629
45 SCN11A NM_001349253.2(SCN11A):c.268-3C>T SNV Uncertain significance 662383 rs200598776 3:38988401-38988401 3:38946910-38946910
46 SCN11A NM_001349253.2(SCN11A):c.1621G>A (p.Glu541Lys) SNV Uncertain significance 662621 rs1553638689 3:38945577-38945577 3:38904086-38904086
47 SCN11A NM_001349253.2(SCN11A):c.1964A>T (p.Asp655Val) SNV Uncertain significance 662732 rs1575266312 3:38941443-38941443 3:38899952-38899952
48 SCN11A NM_001349253.2(SCN11A):c.1576G>C (p.Val526Leu) SNV Uncertain significance 663163 rs201958340 3:38946710-38946710 3:38905219-38905219
49 SCN11A NM_001349253.2(SCN11A):c.1223A>G (p.Lys408Arg) SNV Uncertain significance 663655 rs149399418 3:38950564-38950564 3:38909073-38909073
50 SCN11A NM_001349253.2(SCN11A):c.3137G>A (p.Arg1046Gln) SNV Uncertain significance 664871 rs147061364 3:38924806-38924806 3:38883315-38883315

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

Pathways related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 SCN9A SCN3A SCN11A SCN10A
2
Show member pathways
12.54 SCN9A SCN3A SCN11A SCN10A
3
Show member pathways
12.35 SCN9A SCN3A SCN11A SCN10A
4
Show member pathways
12.15 SCN9A SCN3A SCN11A SCN10A
5 12.11 SCN9A SCN11A SCN10A
6
Show member pathways
11.56 SCN9A SCN3A
7
Show member pathways
11.55 SCN9A SCN3A SCN11A SCN10A
8
Show member pathways
11.13 SCN9A SCN3A SCN11A SCN10A
9 10.4 SCN9A SCN3A SCN11A SCN10A

GO Terms for Episodic Pain Syndrome, Familial, 3

Cellular components related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.26 SCN9A SCN3A SCN11A SCN10A
2 voltage-gated sodium channel complex GO:0001518 8.92 SCN9A SCN3A SCN11A SCN10A

Biological processes related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.73 SCN9A SCN3A SCN11A SCN10A
2 transmembrane transport GO:0055085 9.71 SCN9A SCN3A SCN11A SCN10A
3 ion transmembrane transport GO:0034220 9.63 SCN9A SCN3A SCN10A
4 regulation of ion transmembrane transport GO:0034765 9.62 SCN9A SCN3A SCN11A SCN10A
5 sodium ion transport GO:0006814 9.56 SCN9A SCN3A SCN11A SCN10A
6 cation transmembrane transport GO:0098655 9.54 SCN9A SCN3A SCN10A
7 sensory perception of pain GO:0019233 9.48 SCN9A SCN10A
8 sodium ion transmembrane transport GO:0035725 9.46 SCN9A SCN3A SCN11A SCN10A
9 neuronal action potential GO:0019228 9.26 SCN9A SCN3A SCN11A SCN10A
10 membrane depolarization during action potential GO:0086010 8.92 SCN9A SCN3A SCN11A SCN10A

Molecular functions related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.62 SCN9A SCN3A SCN11A SCN10A
2 voltage-gated ion channel activity GO:0005244 9.56 SCN9A SCN3A SCN11A SCN10A
3 cation channel activity GO:0005261 9.46 SCN9A SCN3A SCN11A SCN10A
4 sodium channel activity GO:0005272 9.26 SCN9A SCN3A SCN11A SCN10A
5 voltage-gated sodium channel activity GO:0005248 8.92 SCN9A SCN3A SCN11A SCN10A

Sources for Episodic Pain Syndrome, Familial, 3

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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