FEPS3
MCID: EPS028
MIFTS: 40

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 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:

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:

Disease Ontology 12 DOID:0111731
OMIM 56 615552
OMIM Phenotypic Series 56 PS615040
MeSH 43 D010146
NCIt 49 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 : 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), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. 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 35)
# Related Disease Score Top Affiliating Genes
1 familial episodic pain syndrome 29.8 SCN9A SCN11A SCN10A COPS3
2 triiodothyronine receptor auxiliary protein 10.2
3 neuropathy, hereditary sensory and autonomic, type vii 10.0 SCN3A SCN11A
4 progressive familial heart block 9.9 SCN3A NAV1
5 electroclinical syndrome 9.8 SCN9A SCN3A
6 progressive familial heart block, type ia 9.8 SCN9A SCN3A
7 benign familial infantile epilepsy 9.7 SCN9A SCN3A
8 lennox-gastaut syndrome 9.6 SCN9A SCN3A
9 paramyotonia congenita of von eulenburg 9.6 SCN9A NAV1 MOCS2
10 epilepsy, idiopathic generalized 9.6 SCN9A SCN3A SCN11A
11 autonomic neuropathy 9.5 SCN9A SCN11A
12 familial febrile seizures 9.5 SCN9A SCN3A
13 migraine, familial hemiplegic, 3 9.5 SCN9A SCN3A NAV1
14 pain agnosia 9.5 SCN9A SCN10A
15 neonatal period electroclinical syndrome 9.5 SCN9A SCN3A NAV1
16 agnosia 9.5 SCN9A SCN10A
17 sodium channelopathy-related small fiber neuropathy 9.4 SCN9A SCN11A SCN10A
18 neuropathy 9.4 SCN9A SCN11A SCN10A
19 indifference to pain, congenital, autosomal recessive 9.4 SCN9A SCN11A SCN10A
20 erythermalgia, primary 9.4 SCN9A SCN11A SCN10A
21 west syndrome 9.4 SCN3A SCN11A SCN10A
22 episodic pain syndrome, familial, 2 9.2 SCN9A SCN3A SCN10A
23 trigeminal nerve disease 9.1 SCN9A SCN3A SCN11A SCN10A
24 trigeminal neuralgia 9.0 SCN9A SCN3A SCN11A SCN10A
25 autonomic nervous system disease 9.0 SCN9A SCN3A SCN11A SCN10A
26 peripheral nervous system disease 9.0 SCN9A SCN3A SCN11A SCN10A
27 migraine with or without aura 1 9.0 SCN9A SCN3A SCN11A SCN10A
28 erythromelalgia 8.7 SCN9A SCN3A SCN11A SCN10A NAV1
29 paine syndrome 8.7 SCN9A SCN3A SCN11A SCN10A NAV1
30 paroxysmal extreme pain disorder 8.7 SCN9A SCN3A SCN11A SCN10A NAV1
31 somatoform disorder 8.7 SCN9A SCN3A SCN11A SCN10A NAV1
32 generalized epilepsy with febrile seizures plus 8.7 SCN9A SCN3A SCN11A SCN10A NAV1
33 epileptic encephalopathy, early infantile, 6 8.7 SCN9A SCN3A SCN11A SCN10A NAV1
34 early infantile epileptic encephalopathy 8.7 SCN9A SCN3A SCN11A SCN10A NAV1
35 brugada syndrome 8.7 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:

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 23)
# Title Authors PMID Year
1
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. 6 56
24776970 2014
2
Gain-of-function mutations in SCN11A cause familial episodic pain. 6 56
24207120 2013
3
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 56
21698661 2012
4
Origin of pressure-induced insulator-to-metal transition in the van der Waals compound FePS3 from first-principles calculations. 61
32091135 2020
5
Phonon and Thermal Properties of Quasi-Two-Dimensional FePS3 and MnPS3 Antiferromagnetic Semiconductors. 61
31951116 2020
6
Hermetically encapsulating sulfur by FePS3 flakes for high-performance lithium sulfur batteries. 61
31848538 2020
7
Surface modification of multilayer FePS3 by Ga ion irradiation. 61
31645643 2019
8
A facile synthesis of FePS3@C nanocomposites and their enhanced performance in lithium-ion batteries. 61
30806388 2019
9
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain. 61
31551682 2019
10
Bias-switchable negative and positive photoconductivity in 2D FePS3 ultraviolet photodetectors. 61
29582784 2018
11
High-Yield Production of Monolayer FePS3 Quantum Sheets via Chemical Exfoliation for Efficient Photocatalytic Hydrogen Evolution. 61
29782672 2018
12
Exfoliation of ultrathin FePS3 layers as a promising electrocatalyst for the oxygen evolution reaction. 61
29658552 2018
13
Ising-Type Magnetic Ordering in Atomically Thin FePS3. 61
27960508 2016
14
Distinctive in-Plane Cleavage Behaviors of Two-Dimensional Layered Materials. 61
27564525 2016
15
Weak Van der Waals Stacking, Wide-Range Band Gap, and Raman Study on Ultrathin Layers of Metal Phosphorus Trichalcogenides. 61
26607168 2016
16
The magnon dynamics and spin exchange parameters of FePS3. 61
23006615 2012
17
Effects of lithium intercalation on the electronic properties of FePS3 single crystals. 61
9983150 1996
18
Delocalization of the Fe 3d levels in the quasi-two-dimensional correlated insulator FePS3. 61
9975880 1994
19
Amine intercalation in FePS3: A 57Fe Mössbauer study. 61
10011510 1994
20
Light-scattering study of dynamical behavior of antiferromagnetic spins in the layered magnetic semiconductor FePS3. 61
9995012 1990
21
Conduction processes in the layered semiconductor compound FePS3. 61
9995599 1990
22
Lattice dynamics of lithium intercalated FePS3 compounds. 61
9946143 1988
23
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 315) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN11A NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys)SNV Pathogenic 69850 rs138607170 3:38966945-38966945 3:38925454-38925454
2 SCN11A NM_001349253.2(SCN11A):c.2423C>G (p.Ala808Gly)SNV Pathogenic 89013 rs483352921 3:38936436-38936436 3:38894945-38894945
3 SCN11A NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr)SNV Pathogenic 157600 rs606231280 3:38950645-38950645 3:38909154-38909154
4 SCN11A NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro)SNV Conflicting interpretations of pathogenicity 157599 rs141686175 3:38913706-38913706 3:38872215-38872215
5 SCN11A NM_001349253.2(SCN11A):c.408C>T (p.Ile136=)SNV Conflicting interpretations of pathogenicity 425293 rs148425367 3:38986982-38986982 3:38945491-38945491
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.1483del (p.Leu494_Leu495insTer)deletion Uncertain significance 541557 rs763788482 3:38946803-38946803 3:38905312-38905312
8 SCN11A NM_001349253.2(SCN11A):c.713-2A>GSNV Uncertain significance 541580 rs779935698 3:38962748-38962748 3:38921257-38921257
9 SCN11A NM_001349253.2(SCN11A):c.344_346delinsG (p.Phe115_Asn116delinsTer)indel Uncertain significance 541576 rs1553644026 3:38988320-38988322 3:38946829-38946831
10 SCN11A NM_001349253.2(SCN11A):c.2085C>T (p.Gly695=)SNV Uncertain significance 541561 rs1033558330 3:38938654-38938654 3:38897163-38897163
11 SCN11A NM_001349253.2(SCN11A):c.2083G>A (p.Gly695Ser)SNV Uncertain significance 541579 rs553388188 3:38938656-38938656 3:38897165-38897165
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.1591A>G (p.Ile531Val)SNV Uncertain significance 541584 rs1553638792 3:38946695-38946695 3:38905204-38905204
19 SCN11A NM_001349253.2(SCN11A):c.1654T>A (p.Ser552Thr)SNV Uncertain significance 576313 rs1559521113 3:38945544-38945544 3:38904053-38904053
20 SCN11A NM_001349253.2(SCN11A):c.429C>A (p.Cys143Ter)SNV Uncertain significance 569593 rs1429601834 3:38986961-38986961 3:38945470-38945470
21 SCN11A NM_001349253.2(SCN11A):c.3620G>T (p.Cys1207Phe)SNV Uncertain significance 582465 rs904970580 3:38913075-38913075 3:38871584-38871584
22 SCN11A NM_001349253.2(SCN11A):c.3571G>A (p.Val1191Ile)SNV Uncertain significance 578351 rs199670122 3:38913124-38913124 3:38871633-38871633
23 SCN11A NM_001349253.2(SCN11A):c.1971G>C (p.Met657Ile)SNV Uncertain significance 577498 rs1559518186 3:38941436-38941436 3:38899945-38899945
24 SCN11A NM_001349253.2(SCN11A):c.1560G>T (p.Gln520His)SNV Uncertain significance 572076 rs774075554 3:38946726-38946726 3:38905235-38905235
25 SCN11A NM_001349253.2(SCN11A):c.1192_1194GTT[1] (p.Val399del)short repeat Uncertain significance 575371 rs749659844 3:38950590-38950592 3:38909099-38909101
26 SCN11A NM_001349253.2(SCN11A):c.489G>A (p.Glu163=)SNV Uncertain significance 577979 rs774022892 3:38968422-38968422 3:38926931-38926931
27 SCN11A NM_001349253.2(SCN11A):c.4748A>G (p.Tyr1583Cys)SNV Uncertain significance 568309 rs1559482748 3:38888813-38888813 3:38847322-38847322
28 SCN11A NM_001349253.2(SCN11A):c.3851G>A (p.Gly1284Asp)SNV Uncertain significance 565966 rs755416318 3:38908912-38908912 3:38867421-38867421
29 SCN11A NM_001349253.2(SCN11A):c.3485A>G (p.Glu1162Gly)SNV Uncertain significance 577892 rs770327954 3:38913694-38913694 3:38872203-38872203
30 SCN11A NM_001349253.2(SCN11A):c.2522G>A (p.Arg841Gln)SNV Uncertain significance 571780 rs779067124 3:38936337-38936337 3:38894846-38894846
31 SCN11A NM_001349253.2(SCN11A):c.2319G>A (p.Met773Ile)SNV Uncertain significance 573757 rs1370117026 3:38938420-38938420 3:38896929-38896929
32 SCN11A NM_001349253.2(SCN11A):c.2307G>A (p.Trp769Ter)SNV Uncertain significance 574889 rs1553637480 3:38938432-38938432 3:38896941-38896941
33 SCN11A NM_001349253.2(SCN11A):c.2230del (p.Ser744fs)deletion Uncertain significance 580673 rs1559515746 3:38938509-38938509 3:38897018-38897018
34 SCN11A NM_001349253.2(SCN11A):c.1779C>A (p.Phe593Leu)SNV Uncertain significance 569282 rs1559520838 3:38945419-38945419 3:38903928-38903928
35 SCN11A NM_001349253.2(SCN11A):c.1385G>A (p.Gly462Asp)SNV Uncertain significance 579543 rs1229916082 3:38949528-38949528 3:38908037-38908037
36 SCN11A NM_001349253.2(SCN11A):c.974A>G (p.Gln325Arg)SNV Uncertain significance 566300 rs542904299 3:38951684-38951684 3:38910193-38910193
37 SCN11A NM_001349253.2(SCN11A):c.950T>C (p.Met317Thr)SNV Uncertain significance 570482 rs1559531816 3:38961435-38961435 3:38919944-38919944
38 SCN11A NM_001349253.2(SCN11A):c.887C>T (p.Ala296Val)SNV Uncertain significance 567219 rs146560458 3:38962572-38962572 3:38921081-38921081
39 SCN11A NM_001349253.2(SCN11A):c.4143T>G (p.Ile1381Met)SNV Uncertain significance 569618 rs1183602308 3:38892156-38892156 3:38850665-38850665
40 SCN11A NM_001349253.2(SCN11A):c.4057-7T>ASNV Uncertain significance 578763 rs976052295 3:38892249-38892249 3:38850758-38850758
41 SCN11A NM_001349253.2(SCN11A):c.3634G>T (p.Asp1212Tyr)SNV Uncertain significance 566025 rs966280936 3:38913061-38913061 3:38871570-38871570
42 SCN11A NM_001349253.2(SCN11A):c.3594_3596CTT[1] (p.Phe1200del)short repeat Uncertain significance 572538 rs752609562 3:38913096-38913098 3:38871605-38871607
43 SCN11A NM_001349253.2(SCN11A):c.3496-5A>GSNV Uncertain significance 541567 rs370779865 3:38913204-38913204 3:38871713-38871713
44 SCN11A NM_001349253.2(SCN11A):c.3440G>A (p.Arg1147Gln)SNV Uncertain significance 541571 rs533830451 3:38913739-38913739 3:38872248-38872248
45 SCN11A NM_001349253.2(SCN11A):c.3064G>T (p.Gly1022Cys)SNV Uncertain significance 541564 rs144070491 3:38926779-38926779 3:38885288-38885288
46 SCN11A NM_001349253.2(SCN11A):c.2458A>T (p.Asn820Tyr)SNV Uncertain significance 541568 rs148401428 3:38936401-38936401 3:38894910-38894910
47 SCN11A NM_001349253.2(SCN11A):c.2345_2347CAT[3] (p.Ser785del)short repeat Uncertain significance 541572 rs757197374 3:38938383-38938385 3:38896892-38896894
48 SCN11A NM_001349253.2(SCN11A):c.1863A>G (p.Ile621Met)SNV Uncertain significance 541578 rs370738551 3:38941544-38941544 3:38900053-38900053
49 SCN11A NM_001349253.2(SCN11A):c.1729C>T (p.Pro577Ser)SNV Uncertain significance 541559 rs1174559334 3:38945469-38945469 3:38903978-38903978
50 SCN11A NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter)SNV Uncertain significance 488927 rs41285132 3:38926829-38926829 3:38885338-38885338

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
12.54 SCN9A SCN3A SCN11A SCN10A
2
Show member pathways
12.35 SCN9A SCN3A SCN11A SCN10A
3
Show member pathways
12.15 SCN9A SCN3A SCN11A SCN10A
4 12.11 SCN9A SCN11A SCN10A
5
Show member pathways
11.55 SCN9A SCN3A SCN11A SCN10A
6
Show member pathways
11.13 SCN9A SCN3A SCN11A SCN10A
7 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 9.71 SCN9A SCN3A SCN11A SCN10A
2 transmembrane transport GO:0055085 9.67 SCN9A SCN3A SCN11A SCN10A
3 regulation of ion transmembrane transport GO:0034765 9.62 SCN9A SCN3A SCN11A SCN10A
4 ion transmembrane transport GO:0034220 9.61 SCN9A SCN3A SCN10A
5 sodium ion transport GO:0006814 9.56 SCN9A SCN3A SCN11A SCN10A
6 sensory perception of pain GO:0019233 9.46 SCN9A SCN10A
7 sodium ion transmembrane transport GO:0035725 9.46 SCN9A SCN3A SCN11A SCN10A
8 neuronal action potential GO:0019228 9.26 SCN9A SCN3A SCN11A SCN10A
9 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
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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