FEPS
MCID: FML340
MIFTS: 50

Familial Episodic Pain Syndrome (FEPS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Episodic Pain Syndrome

MalaCards integrated aliases for Familial Episodic Pain Syndrome:

Name: Familial Episodic Pain Syndrome 12 20 58 36 29 15
Feps 12 20 58

Characteristics:

Orphanet epidemiological data:

58
familial episodic pain syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111728
KEGG 36 H01391
ICD10 via Orphanet 33 M79.6
Orphanet 58 ORPHA391384

Summaries for Familial Episodic Pain Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 391384 Definition Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.

MalaCards based summary : Familial Episodic Pain Syndrome, also known as feps, is related to episodic pain syndrome, familial, 1 and episodic pain syndrome, familial, 2. An important gene associated with Familial Episodic Pain Syndrome is TRPA1 (Transient Receptor Potential Cation Channel Subfamily A Member 1), and among its related pathways/superpathways are Inflammatory mediator regulation of TRP channels and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Pancrelipase and pancreatin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, globus pallidus and smooth muscle, and related phenotypes are behavior/neurological and integument

Disease Ontology : 12 A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion.

KEGG : 36 Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions of fatigue, fasting, and cold. Gain-of-function mutations in TRPA1, SCN10A, and SCN11A can be causative of FEPS.

Related Diseases for Familial Episodic Pain Syndrome

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 Familial Episodic Pain Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 episodic pain syndrome, familial, 1 33.2 TRPA1 MSC-AS1
2 episodic pain syndrome, familial, 2 33.1 SCN9A SCN11A SCN10A
3 episodic pain syndrome, familial, 3 33.0 SCN9A SCN11A SCN10A COPS3
4 neuropathy 30.5 TRPV4 TRPV1 SCN9A SCN11A SCN10A
5 peripheral nervous system disease 30.2 TRPV4 TRPV1 TRPM8 TRPA1 SCN9A SCN11A
6 pseudopterygium 10.3 TRPV1 TRPA1
7 indifference to pain, congenital, autosomal recessive 10.3 SCN9A SCN11A SCN10A
8 photokeratitis 10.3 TRPV1 TRPM8 TRPA1
9 generalized epilepsy with febrile seizures plus, type 2 10.3 SCN9A SCN11A
10 sodium channelopathy-related small fiber neuropathy 10.3 SCN9A SCN11A SCN10A
11 erythermalgia, primary 10.3 SCN9A SCN11A SCN10A
12 sensory peripheral neuropathy 10.3 TRPV1 SCN9A SCN11A
13 causalgia 10.3 TRPV1 SCN9A SCN11A SCN10A
14 parastremmatic dwarfism 10.3 TRPV4 TRPA1 MCOLN1
15 spondylometaphyseal dysplasia, kozlowski type 10.3 TRPV4 SCN9A MCOLN1
16 photoparoxysmal response 1 10.3 TRPV4 TRPV3
17 metatropic dysplasia 10.3 TRPV4 TRPV3 MCOLN1
18 scapuloperoneal spinal muscular atrophy 10.3 TRPV4 TRPV3 TRPA1 SCN9A
19 hyperhidrosis, gustatory 10.2 TRPV1 TRPM8 TRPM3 TRPA1
20 glutamate-cysteine ligase deficiency 10.2 TRPC6 ANK1
21 waardenburg syndrome, type 3 10.2 TRPV3 TRPM8
22 spondyloepiphyseal dysplasia, maroteaux type 10.2 TRPV4 TRPA1 SCN9A MCOLN1
23 generalized epilepsy with febrile seizures plus 10.2 SCN9A SCN11A SCN10A
24 dravet syndrome 10.2 TRPV1 SCN9A SCN11A SCN10A
25 autonomic nervous system disease 10.2 TRPV1 TRPA1 SCN9A SCN11A SCN10A
26 brachyolmia 10.2 TRPV4 TRPV3
27 early infantile epileptic encephalopathy 10.2 TRPV1 SCN9A SCN11A SCN10A
28 dentin sensitivity 10.2 TRPV3 TRPV1 TRPM8 TRPM3 TRPA1
29 pain agnosia 10.2 TRPV1 TRPM8 TRPA1 SCN9A SCN10A
30 agnosia 10.2 TRPV1 TRPM8 TRPA1 SCN9A SCN10A
31 facial dermatosis 10.2 TRPV4 TRPV3 TRPV1 TRPA1 ANK1
32 brugada syndrome 10.2 SCN9A SCN11A SCN10A ANK1
33 developmental and epileptic encephalopathy 24 10.2 TRPV3 TRPV1
34 diabetic neuropathy 10.2 TRPV4 TRPV3 TRPV1 TRPM8 SCN9A
35 erythromelalgia 10.1 TRPV3 TRPV1 TRPA1 SCN9A SCN11A SCN10A
36 trigeminal nerve disease 10.1 TRPV1 TRPM8 TRPA1 SCN9A SCN11A SCN10A
37 trigeminal neuralgia 10.1 TRPV1 TRPM8 TRPA1 SCN9A SCN11A SCN10A
38 somatoform disorder 10.1 TRPV1 TRPM8 TRPA1 SCN9A SCN11A SCN10A
39 paroxysmal extreme pain disorder 10.0 TRPV4 TRPV1 TRPM8 TRPA1 SCN9A SCN11A
40 progressive familial heart block 10.0 TRPV4 TRPV3 TRPM6 TRPM3 TRPC6
41 paine syndrome 10.0 TRPV4 TRPV1 TRPM8 TRPA1 SCN9A SCN11A
42 mucolipidosis iv 9.9 TRPV4 TRPV3 TRPM6 TRPM3 TRPC6 MCOLN1
43 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.9 TRPM6 KCNJ12
44 alcohol dependence 9.9
45 congenital anomalies of kidney and urinary tract 2 9.9
46 insulin-like growth factor i 9.9
47 urinary tract infection 9.9
48 hydronephrosis 9.9
49 acute cystitis 9.9
50 migraine with or without aura 1 9.9 TRPV4 TRPV3 TRPV1 TRPM8 TRPA1 SCN9A

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



Diseases related to Familial Episodic Pain Syndrome

Symptoms & Phenotypes for Familial Episodic Pain Syndrome

MGI Mouse Phenotypes related to Familial Episodic Pain Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ANK1 MCOLN1 SCN10A SCN11A SCN9A TRPA1
2 integument MP:0010771 9.73 ANK1 MCOLN1 SCN10A SCN11A SCN9A TRPA1
3 nervous system MP:0003631 9.44 ANK1 MCOLN1 SCN10A SCN11A SCN9A TRPA1

Drugs & Therapeutics for Familial Episodic Pain Syndrome

Drugs for Familial Episodic Pain Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational Phase 1, Phase 2 53608-75-6
2 pancreatin Phase 1, Phase 2
3
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
4
Polyestradiol phosphate Approved Phase 1 28014-46-2
5
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
6
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
7
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
8 Pharmaceutical Solutions Phase 1
9 Contraceptives, Oral, Combined Phase 1
10 Contraceptives, Oral Phase 1
11 Estradiol 17 beta-cypionate Phase 1
12 Estradiol 3-benzoate Phase 1
13 Contraceptive Agents Phase 1
14 Norgestimate, ethinyl estradiol drug combination Phase 1
15 beta-Lactamase Inhibitors Phase 1
16
tannic acid Approved 1401-55-4
17
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
18 Psychotropic Drugs
19 Antipsychotic Agents

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Phase III, Randomized, Double-Blind, Multicenter, Comparative Study to Determine the Efficacy and Safety of Cefepime-Tazobactam vs. Meropenem Followed by Optional Oral Therapy in the Treatment of Complicated Urinary Tract Infection or Acute Pyelonephritis in Adults Withdrawn NCT03630081 Phase 3 FEP-TAZ 4 g;Meropenem;ciprofloxacin 500 mg Optional Oral Switch
2 An Open Label, Non-Randomized, Single-Center, Therapeutic Trial Examining the Feasibility, Safety, and Efficacy of FEP-BY02, a High Intensity Focused Ultrasound Tumor Treatment Device, in Patients With Pancreatic Cancer Pain Suspended NCT00637364 Phase 1, Phase 2
3 A Randomized, Double-Blind, Double-Dummy, Placebo- and Positive-Controlled, Crossover Study to Evaluate the Effect of WCK 5222 on the QT/QTc Interval in Healthy Volunteers Completed NCT03554304 Phase 1 WCK 5222;IV placebo matched to WCK 5222 / Moxifloxacin IV solution;Moxifloxacin 400-mg
4 A Phase 1, Randomized, Double-Blind Study to Investigate the Multiple Dose Safety, Tolerability and Pharmacokinetics of WCK 4282 (FEP-TAZ) After Intravenous Administrations in Healthy Volunteers Completed NCT03622008 Phase 1 FEP-TAZ 4 g
5 A Phase 1, Open-label, Single-dose Study to Investigate the Pharmacokinetics of Intravenous WCK 5222 (FEP-ZID) in Patients With Renal Impairment Completed NCT02942810 Phase 1 WCK 5222
6 A Single-dose Study to Investigate the Pharmacokinetics of Intravenous FEP-TAZ in Patients With Renal Impairment Completed NCT02709382 Phase 1 Cefepime and Tazobactam combination
7 A Phase 1, Multiple-Dose, Open-Label Study to Determine and Compare Plasma and Intrapulmonary Concentrations of WCK 5222 (Cefepime and Zidebactam) in Healthy Adult Human Subjects Completed NCT03630094 Phase 1 FEP-ZID
8 Combined Stent Insertion and High-intensity Focused Ultrasound Ablation for Pancreatic Carcinoma With Biliary Obstruction Completed NCT03962478
9 A Pragmatic Cluster Randomized Controlled Trial of a Multi-element Psychosocial Intervention for Early Psychosis in a 10 Million Inhabitant Catchment Area Aimed to Measure the Treatment's Feasibility and Effectiveness: GET UP-PIANO Trial Completed NCT01436331
10 Hippocampal Memory Circuits in Delusions Recruiting NCT03822910
11 Early Stage Identification and Engagement to Reduce Duration of Untreated Psychosis (EaSIE) Recruiting NCT03369730
12 CSC OnDemand: An Innovative Online Learning Platform for Implementing Coordinated Specialty Care Active, not recruiting NCT03465371
13 California Collaborative Network to Promote Data Driven Care and Improve Outcomes in Early Psychosis Enrolling by invitation NCT04007510
14 Reducing Duration of Untreated Psychosis Through Early Detection in a Large Jail System Enrolling by invitation NCT03962348
15 Use of Parent Connectors in First Episode Psychosis (FEP) Not yet recruiting NCT04018521
16 On Track Chile For First Episode Psychosis Not yet recruiting NCT04247711

Search NIH Clinical Center for Familial Episodic Pain Syndrome

Genetic Tests for Familial Episodic Pain Syndrome

Genetic tests related to Familial Episodic Pain Syndrome:

# Genetic test Affiliating Genes
1 Familial Episodic Pain Syndrome 29

Anatomical Context for Familial Episodic Pain Syndrome

MalaCards organs/tissues related to Familial Episodic Pain Syndrome:

40
Myeloid, Globus Pallidus, Smooth Muscle, Skin, Cervix, Pituitary

Publications for Familial Episodic Pain Syndrome

Articles related to Familial Episodic Pain Syndrome:

(show top 50) (show all 206)
# Title Authors PMID Year
1
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. 61 6
20547126 2010
2
SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology. 6
30046661 2018
3
Familial episodic limb pain in kindreds with novel Nav1.9 mutations. 6
30557356 2018
4
Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor. 6
28298626 2017
5
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. 6
24776970 2014
6
Gain-of-function mutations in SCN11A cause familial episodic pain. 6
24207120 2013
7
Effects of microRNA-181b-5p on cognitive deficits in first-episode patients with schizophrenia: Mediated by BCL-2. 61
33636692 2021
8
Linguistic determinants of formal thought disorder in first episode psychosis. 61
32129010 2021
9
Unusual Spin Exchanges Mediated by the Molecular Anion P2S64-: Theoretical Analyses of the Magnetic Ground States, Magnetic Anisotropy and Spin Exchanges of MPS3 (M = Mn, Fe, Co, Ni). 61
33807780 2021
10
Selective Cytotoxicity of Piperine Over Multidrug Resistance Leukemic Cells. 61
33578817 2021
11
Conceptual disorganization and redistribution of resting-state cortical hubs in untreated first-episode psychosis: A 7T study. 61
33500416 2021
12
Conserving resources in the diagnosis of intraoral fibroepithelial polyps. 61
32513428 2021
13
The cytologic and histologic diagnosis of ureteral fibroepithelial polyp in a dog. 61
33332613 2020
14
Reliability and Feasibility of the First-Episode Psychosis Services Fidelity Scale-Revised for Remote Assessment. 61
33106096 2020
15
Characterization of biopolymers produced by planktonic and biofilm cells of Herbaspirillum lusitanum P6-12. 61
32216024 2020
16
Proximity-Coupling-Induced Significant Enhancement of Coercive Field and Curie Temperature in 2D van der Waals Heterostructures. 61
32803805 2020
17
Dopamine dysregulation in psychotic relapse after antipsychotic discontinuation: an [18F]DOPA and [11C]raclopride PET study in first-episode psychosis. 61
32929214 2020
18
Preoperative diagnosis, treatment, and outcomes of FEPs of ureters in children: a 13-year retrospective study based on data at a large pediatric medical center. 61
32844353 2020
19
TRPA1 gene variants hurting our feelings. 61
32444956 2020
20
The impact of sex and cannabis on clinical features in first-admitted patients with psychosis. 61
32291209 2020
21
Magnetic and electronic phase transitions probed by nanomechanical resonators. 61
32483113 2020
22
Outcomes and change processes of an established family education program for carers of adults diagnosed with a serious mental health condition. 61
31030696 2020
23
Origin of pressure-induced insulator-to-metal transition in the van der Waals compound FePS3 from first-principles calculations. 61
32091135 2020
24
Highly Efficient 2D NIR-II Photothermal Agent with Fenton Catalytic Activity for Cancer Synergistic Photothermal-Chemodynamic Therapy. 61
32274298 2020
25
Effect of complexing agents on phosphorus release from chemical-enhanced phosphorus removal sludge during anaerobic fermentation. 61
31954968 2020
26
Layered metal phosphorous trichalcogenides nanosheets: facile synthesis and photocatalytic hydrogen evolution. 61
31860884 2020
27
Synthesis and antioxidant activities of garlic polysaccharide-Fe(III) complex. 61
31726132 2020
28
Phonon and Thermal Properties of Quasi-Two-Dimensional FePS3 and MnPS3 Antiferromagnetic Semiconductors. 61
31951116 2020
29
Fibroepithelial Polyp at the Bladder Neck Presenting with Gross Hematuria in a 5-Year-Old Boy. 61
33102701 2020
30
The Lived Experience of First-Episode Psychosis: A Systematic Review and Metasynthesis of Qualitative Studies. 61
33120385 2020
31
Holmium Laser En Bloc Resection of Urethral Polyps in Children: A Case Series. 61
33457701 2020
32
Giant Fibroepithelial Polyps: Why do they Grow Excessively? 61
32617069 2020
33
Network analysis exposes core functions in major lifestyles of fungal and oomycete plant pathogens. 61
31878885 2019
34
Salt-Templated Construction of Ultrathin Cobalt Doped Iron Thiophosphite Nanosheets toward Electrochemical Ammonia Synthesis. 61
31858705 2019
35
Fibroepithelial Polyp Originating from the Nasal Septum. 61
32128520 2019
36
Iron phosphorus trichalcogenide ultrathin nanosheets: enhanced photoelectrochemical activity under visible-light irradiation. 61
31663575 2019
37
Raman spectroscopy of two-dimensional magnetic van der Waals materials. 61
31370047 2019
38
Surface modification of multilayer FePS3 by Ga ion irradiation. 61
31645643 2019
39
Using Fidelity Measurement to Assess Quality of Early Psychosis Intervention Services in Ontario. 61
31159664 2019
40
Characterization of Telomerase (hTERT) in Solid and Hematopoietic Cancer Cell Lines Reveals Different Expression Patterns. 61
31519574 2019
41
Joint Meeting of the Federation of European Physiological Societies (FEPS) and the Italian Physiological Society (SIF) Bologna (Italy), September 10th - 13th 2019. 61
31497929 2019
42
Multi-scale analysis of schizophrenia risk genes, brain structure, and clinical symptoms reveals integrative clues for subtyping schizophrenia patients. 61
30508120 2019
43
Medusa's Curls: Ureteropelvic Junction Obstruction Secondary to Multiple Long Intraluminal Polyps. 61
31063764 2019
44
Antimelanogenesis Effects of Fungal Exopolysaccharides Prepared from Submerged Culture of Fomitopsis castanea Mycelia. 61
31336432 2019
45
Comparison of BCR-ABL Transcript Variants Between Patients With Chronic Myeloid Leukaemia and Leukaemia Cell Lines. 61
31280200 2019
46
Tailoring the Porosity in Iron Phosphosulfide Nanosheets to Improve the Performance of Photocatalytic Hydrogen Evolution. 61
30972932 2019
47
Methylphenidate and alcohol effects on flash-evoked potentials, body temperature, and behavior in Long-Evans rats. 61
30394288 2019
48
An Unusually Large Fibroepithelial Polyp of Uterine Cervix: Case Report and Review of Literature. 61
31406544 2019
49
Fractionation and identification of iron-phosphorus compounds in sewage sludge. 61
30784732 2019
50
Silencing the OCT4-PG1 pseudogene reduces OCT-4 protein levels and changes characteristics of the multidrug resistance phenotype in chronic myeloid leukemia. 61
30721421 2019

Variations for Familial Episodic Pain Syndrome

ClinVar genetic disease variations for Familial Episodic Pain Syndrome:

6 (show top 50) (show all 426)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN11A NM_001349253.2(SCN11A):c.2423C>G (p.Ala808Gly) SNV Pathogenic 89013 rs483352921 GRCh37: 3:38936436-38936436
GRCh38: 3:38894945-38894945
2 SCN11A NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr) SNV Pathogenic 157600 rs606231280 GRCh37: 3:38950645-38950645
GRCh38: 3:38909154-38909154
3 SCN11A NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys) SNV Pathogenic 69850 rs138607170 GRCh37: 3:38966945-38966945
GRCh38: 3:38925454-38925454
4 MSC-AS1 , TRPA1 NM_007332.3(TRPA1):c.2564A>G (p.Asn855Ser) SNV Pathogenic 39602 rs398123010 GRCh37: 8:72946604-72946604
GRCh38: 8:72034369-72034369
5 SCN11A NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys) SNV Pathogenic 69850 rs138607170 GRCh37: 3:38966945-38966945
GRCh38: 3:38925454-38925454
6 SCN11A NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) SNV Pathogenic 157599 rs141686175 GRCh37: 3:38913706-38913706
GRCh38: 3:38872215-38872215
7 SCN11A NM_001349253.2(SCN11A):c.2351C>G (p.Ser784Ter) SNV Pathogenic 1033660 GRCh37: 3:38938388-38938388
GRCh38: 3:38896897-38896897
8 SCN11A NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=) SNV Conflicting interpretations of pathogenicity 541551 rs746550786 GRCh37: 3:38941421-38941421
GRCh38: 3:38899930-38899930
9 SCN11A NM_001349253.2(SCN11A):c.5251_5260GTGACCAAGG[3] (p.Asp1758_Gln1759insTer) Microsatellite Uncertain significance 474747 rs774589923 GRCh37: 3:38888290-38888291
GRCh38: 3:38846799-38846800
10 SCN11A NM_001349253.2(SCN11A):c.3877A>G (p.Ile1293Val) SNV Uncertain significance 474724 rs761590329 GRCh37: 3:38908886-38908886
GRCh38: 3:38867395-38867395
11 SCN11A NM_001349253.2(SCN11A):c.703G>T (p.Val235Leu) SNV Uncertain significance 474753 rs770885330 GRCh37: 3:38966915-38966915
GRCh38: 3:38925424-38925424
12 SCN11A NM_001349253.2(SCN11A):c.470A>T (p.Asn157Ile) SNV Uncertain significance 474733 rs145680426 GRCh37: 3:38986920-38986920
GRCh38: 3:38945429-38945429
13 SCN11A NM_001349253.2(SCN11A):c.2693G>A (p.Gly898Asp) SNV Uncertain significance 474710 rs1301732976 GRCh37: 3:38936166-38936166
GRCh38: 3:38894675-38894675
14 SCN11A NM_001349253.2(SCN11A):c.1599G>A (p.Met533Ile) SNV Uncertain significance 474691 rs769224387 GRCh37: 3:38946687-38946687
GRCh38: 3:38905196-38905196
15 SCN11A NM_001349253.2(SCN11A):c.172G>C (p.Ala58Pro) SNV Uncertain significance 474694 rs1553644519 GRCh37: 3:38991682-38991682
GRCh38: 3:38950191-38950191
16 SCN11A NM_001349253.2(SCN11A):c.3042A>T (p.Gln1014His) SNV Uncertain significance 474716 rs1553635601 GRCh37: 3:38926801-38926801
GRCh38: 3:38885310-38885310
17 SCN11A NM_001349253.2(SCN11A):c.1132_1134TTC[2] (p.Phe380del) Microsatellite Uncertain significance 474686 rs771345700 GRCh37: 3:38950647-38950649
GRCh38: 3:38909156-38909158
18 SCN11A NM_001349253.2(SCN11A):c.2318T>C (p.Met773Thr) SNV Uncertain significance 474705 rs1198350999 GRCh37: 3:38938421-38938421
GRCh38: 3:38896930-38896930
19 SCN11A NM_001349253.2(SCN11A):c.481A>G (p.Ile161Val) SNV Uncertain significance 474734 rs1398192783 GRCh37: 3:38986909-38986909
GRCh38: 3:38945418-38945418
20 SCN11A NM_001349253.2(SCN11A):c.465C>A (p.Asn155Lys) SNV Uncertain significance 474731 rs895473949 GRCh37: 3:38986925-38986925
GRCh38: 3:38945434-38945434
21 SCN11A NM_001349253.2(SCN11A):c.1624C>A (p.Pro542Thr) SNV Uncertain significance 474692 rs144473860 GRCh37: 3:38945574-38945574
GRCh38: 3:38904083-38904083
22 SCN11A NM_001349253.2(SCN11A):c.1904A>G (p.His635Arg) SNV Uncertain significance 474697 rs1434002501 GRCh37: 3:38941503-38941503
GRCh38: 3:38900012-38900012
23 SCN11A NM_001349253.2(SCN11A):c.4284C>T (p.Gly1428=) SNV Uncertain significance 474726 rs1415789103 GRCh37: 3:38892015-38892015
GRCh38: 3:38850524-38850524
24 SCN11A NM_001349253.2(SCN11A):c.4433G>A (p.Arg1478Gln) SNV Uncertain significance 474729 rs758597298 GRCh37: 3:38889128-38889128
GRCh38: 3:38847637-38847637
25 SCN11A NM_001349253.2(SCN11A):c.1043_1045dup (p.Ser348dup) Duplication Uncertain significance 474684 rs1364760343 GRCh37: 3:38951612-38951613
GRCh38: 3:38910121-38910122
26 SCN11A NM_001349253.2(SCN11A):c.2576G>A (p.Arg859Lys) SNV Uncertain significance 541548 rs539550341 GRCh37: 3:38936283-38936283
GRCh38: 3:38894792-38894792
27 SCN11A NM_001349253.2(SCN11A):c.1729C>T (p.Pro577Ser) SNV Uncertain significance 541559 rs1174559334 GRCh37: 3:38945469-38945469
GRCh38: 3:38903978-38903978
28 SCN11A NM_001349253.2(SCN11A):c.4607C>T (p.Thr1536Ile) SNV Uncertain significance 541560 rs766122411 GRCh37: 3:38888954-38888954
GRCh38: 3:38847463-38847463
29 SCN11A NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His) SNV Uncertain significance 541569 rs141457896 GRCh37: 3:38888588-38888588
GRCh38: 3:38847097-38847097
30 SCN11A NM_001349253.2(SCN11A):c.3440G>A (p.Arg1147Gln) SNV Uncertain significance 541571 rs533830451 GRCh37: 3:38913739-38913739
GRCh38: 3:38872248-38872248
31 SCN11A NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser) SNV Uncertain significance 541573 rs201336927 GRCh37: 3:38892017-38892017
GRCh38: 3:38850526-38850526
32 SCN11A NM_001349253.2(SCN11A):c.3851G>A (p.Gly1284Asp) SNV Uncertain significance 565966 rs755416318 GRCh37: 3:38908912-38908912
GRCh38: 3:38867421-38867421
33 SCN11A NM_001349253.2(SCN11A):c.3485A>G (p.Glu1162Gly) SNV Uncertain significance 577892 rs770327954 GRCh37: 3:38913694-38913694
GRCh38: 3:38872203-38872203
34 SCN11A NM_001349253.2(SCN11A):c.5135T>C (p.Met1712Thr) SNV Uncertain significance 581267 rs1559482153 GRCh37: 3:38888426-38888426
GRCh38: 3:38846935-38846935
35 SCN11A NM_001349253.2(SCN11A):c.4328-3G>A SNV Uncertain significance 840492 GRCh37: 3:38889236-38889236
GRCh38: 3:38847745-38847745
36 SCN11A NM_001349253.2(SCN11A):c.662T>C (p.Leu221Pro) SNV Uncertain significance 841183 GRCh37: 3:38966956-38966956
GRCh38: 3:38925465-38925465
37 SCN11A NM_001349253.2(SCN11A):c.3337G>A (p.Gly1113Arg) SNV Uncertain significance 842510 GRCh37: 3:38921497-38921497
GRCh38: 3:38880006-38880006
38 SCN11A NM_001349253.2(SCN11A):c.2485A>G (p.Lys829Glu) SNV Uncertain significance 847332 GRCh37: 3:38936374-38936374
GRCh38: 3:38894883-38894883
39 SCN11A NM_001349253.2(SCN11A):c.19C>G (p.Pro7Ala) SNV Uncertain significance 849567 GRCh37: 3:38991835-38991835
GRCh38: 3:38950344-38950344
40 SCN11A NM_001349253.2(SCN11A):c.2531G>A (p.Cys844Tyr) SNV Uncertain significance 851378 GRCh37: 3:38936328-38936328
GRCh38: 3:38894837-38894837
41 SCN11A NM_001349253.2(SCN11A):c.119C>G (p.Ser40Cys) SNV Uncertain significance 854026 GRCh37: 3:38991735-38991735
GRCh38: 3:38950244-38950244
42 SCN11A NM_001349253.2(SCN11A):c.3296A>G (p.His1099Arg) SNV Uncertain significance 855201 GRCh37: 3:38921538-38921538
GRCh38: 3:38880047-38880047
43 SCN11A NM_001349253.2(SCN11A):c.2618G>A (p.Cys873Tyr) SNV Uncertain significance 855416 GRCh37: 3:38936241-38936241
GRCh38: 3:38894750-38894750
44 SCN11A NM_001349253.2(SCN11A):c.340C>T (p.Pro114Ser) SNV Uncertain significance 856410 GRCh37: 3:38988326-38988326
GRCh38: 3:38946835-38946835
45 SCN11A NM_001349253.2(SCN11A):c.2158A>T (p.Met720Leu) SNV Uncertain significance 859274 GRCh37: 3:38938581-38938581
GRCh38: 3:38897090-38897090
46 SCN11A NM_001349253.2(SCN11A):c.53C>T (p.Pro18Leu) SNV Uncertain significance 861569 GRCh37: 3:38991801-38991801
GRCh38: 3:38950310-38950310
47 SCN11A NM_001349253.2(SCN11A):c.3116G>A (p.Trp1039Ter) SNV Uncertain significance 861617 GRCh37: 3:38924827-38924827
GRCh38: 3:38883336-38883336
48 SCN11A NM_001349253.2(SCN11A):c.1666G>A (p.Val556Met) SNV Uncertain significance 861730 GRCh37: 3:38945532-38945532
GRCh38: 3:38904041-38904041
49 SCN11A NM_001349253.2(SCN11A):c.4909G>A (p.Ala1637Thr) SNV Uncertain significance 863550 GRCh37: 3:38888652-38888652
GRCh38: 3:38847161-38847161
50 SCN11A NM_001349253.2(SCN11A):c.1889C>T (p.Ala630Val) SNV Uncertain significance 864579 GRCh37: 3:38941518-38941518
GRCh38: 3:38900027-38900027

Expression for Familial Episodic Pain Syndrome

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

Pathways for Familial Episodic Pain Syndrome

Pathways related to Familial Episodic Pain Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Inflammatory mediator regulation of TRP channels hsa04750

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
2
Show member pathways
13.01 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
3
Show member pathways
12.39 TRPV4 TRPV3 TRPV1 TRPM8 TRPA1
4 12.36 TRPV3 TRPC6 SCN9A SCN11A SCN10A
5
Show member pathways
12.15 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
6
Show member pathways
11.77 SCN9A SCN11A SCN10A ANK1
7
Show member pathways
11.51 SCN9A SCN11A SCN10A
8 10.93 SCN9A SCN11A SCN10A ANK1
9 10.72 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3

GO Terms for Familial Episodic Pain Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.22 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
2 integral component of membrane GO:0016021 10.1 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
3 plasma membrane GO:0005886 9.83 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
4 cation channel complex GO:0034703 9.37 TRPC6 TRPC5
5 integral component of plasma membrane GO:0005887 9.36 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
6 voltage-gated sodium channel complex GO:0001518 9.33 SCN9A SCN11A SCN10A

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.03 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
2 ion transmembrane transport GO:0034220 10.02 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.88 TRPV4 TRPV1 TRPC6 TRPC5
4 regulation of ion transmembrane transport GO:0034765 9.87 SCN9A SCN11A SCN10A KCNJ12
5 cation transmembrane transport GO:0098655 9.85 TRPM8 TRPM6 TRPM3 SCN9A SCN10A MCOLN1
6 calcium ion transmembrane transport GO:0070588 9.85 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
7 cation transport GO:0006812 9.83 TRPM8 TRPM6 TRPM3 TRPC6 MCOLN1
8 sodium ion transport GO:0006814 9.82 SCN9A SCN11A SCN10A
9 sodium ion transmembrane transport GO:0035725 9.8 SCN9A SCN11A SCN10A
10 protein homotetramerization GO:0051289 9.8 TRPV1 TRPA1 MCOLN1 KCNJ12
11 sensory perception of pain GO:0019233 9.78 TRPV1 TRPA1 SCN9A SCN10A
12 release of sequestered calcium ion into cytosol GO:0051209 9.73 TRPV1 TRPA1 MCOLN1
13 neuronal action potential GO:0019228 9.71 SCN9A SCN11A SCN10A
14 calcium ion import across plasma membrane GO:0098703 9.7 TRPV4 TRPV3 TRPV1
15 membrane depolarization during action potential GO:0086010 9.69 SCN9A SCN11A SCN10A
16 calcium ion transport GO:0006816 9.65 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
17 protein tetramerization GO:0051262 9.64 TRPM6 TRPM3
18 response to pain GO:0048265 9.63 TRPV1 TRPA1
19 divalent metal ion transport GO:0070838 9.63 TRPM8 TRPM6 TRPM3
20 behavioral response to pain GO:0048266 9.62 TRPV1 SCN9A
21 manganese ion transport GO:0006828 9.62 TRPC6 TRPC5
22 diet induced thermogenesis GO:0002024 9.61 TRPV4 TRPV1
23 negative regulation of dendrite morphogenesis GO:0050774 9.61 TRPC6 TRPC5
24 response to temperature stimulus GO:0009266 9.6 TRPV3 TRPM8
25 sensory perception of temperature stimulus GO:0050951 9.59 TRPM8 TRPM3
26 detection of temperature stimulus GO:0016048 9.58 TRPM8 TRPM3
27 thermoception GO:0050955 9.58 TRPV1 TRPM8 TRPA1
28 detection of chemical stimulus involved in sensory perception of pain GO:0050968 9.55 TRPV1 TRPA1
29 ion transport GO:0006811 9.47 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.81 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
2 cation channel activity GO:0005261 9.7 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3
3 voltage-gated ion channel activity GO:0005244 9.67 SCN9A SCN11A SCN10A KCNJ12
4 ATPase binding GO:0051117 9.65 TRPC6 TRPC5 ANK1
5 inositol 1,4,5 trisphosphate binding GO:0070679 9.51 TRPC6 TRPC5
6 sodium channel activity GO:0005272 9.5 SCN9A SCN11A SCN10A
7 actinin binding GO:0042805 9.49 TRPC6 TRPC5
8 store-operated calcium channel activity GO:0015279 9.46 TRPC6 TRPC5
9 calcium-release channel activity GO:0015278 9.43 TRPV1 TRPA1
10 voltage-gated sodium channel activity GO:0005248 9.43 SCN9A SCN11A SCN10A
11 ligand-gated calcium channel activity GO:0099604 9.4 TRPM8 MCOLN1
12 ion channel activity GO:0005216 9.4 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6 TRPM3

Sources for Familial Episodic Pain Syndrome

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