FEPS1
MCID: EPS039
MIFTS: 42

Episodic Pain Syndrome, Familial, 1 (FEPS1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Pain Syndrome, Familial, 1

MalaCards integrated aliases for Episodic Pain Syndrome, Familial, 1:

Name: Episodic Pain Syndrome, Familial, 1 57 72 70
Familial Episodic Pain Syndrome 1 12 29 6
Feps1 57 12 72
Familial Episodic Pain Syndrome with Predominantly Upper Body Involvement 58
Pain 44

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
one family has been reported (last curated january 2013)
episodes last about 1.5 hours
episodes are triggered by hunger, fatigue, cold, stress
episodes are followed by exhaustion and sleep


HPO:

31
episodic pain syndrome, familial, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111729
OMIM® 57 615040
OMIM Phenotypic Series 57 PS615040
MeSH 44 D010146
ICD10 via Orphanet 33 M79.6
Orphanet 58 ORPHA391389
SNOMED-CT via HPO 68 22253000 263681008
UMLS 70 C3808667

Summaries for Episodic Pain Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 72 Episodic pain syndrome, familial, 1: An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. Affected individuals do not manifest altered pain sensitivity outside the episodes.

MalaCards based summary : Episodic Pain Syndrome, Familial, 1, also known as familial episodic pain syndrome 1, is related to familial episodic pain syndrome and chronic pain. An important gene associated with Episodic Pain Syndrome, Familial, 1 is TRPA1 (Transient Receptor Potential Cation Channel Subfamily A Member 1). The drugs Borage oil and Ranitidine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and skin, and related phenotype is pain.

Disease Ontology : 12 A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has material basis in heterozygous mutation in the TRPA1 gene on chromosome 8q13.

OMIM® : 57 Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). (615040) (Updated 05-Apr-2021)

Related Diseases for Episodic Pain Syndrome, Familial, 1

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

(show top 50) (show all 3513)
# Related Disease Score Top Affiliating Genes
1 familial episodic pain syndrome 31.3 TRPA1 MSC-AS1
2 chronic pain 11.9
3 back pain 11.8
4 paroxysmal extreme pain disorder 11.8
5 complex regional pain syndrome 11.7
6 neuropathy, hereditary sensory and autonomic, type v 11.7
7 fibromyalgia 11.6
8 insensitivity to pain, congenital, with anhidrosis 11.6
9 paine syndrome 11.6
10 interstitial cystitis 11.6
11 central pain syndrome 11.6
12 pain agnosia 11.5
13 indifference to pain, congenital, autosomal recessive 11.5
14 myofascial pain syndrome 11.5
15 patellofemoral pain syndrome 11.4
16 episodic pain syndrome, familial, 2 11.4
17 persistent idiopathic facial pain 11.4
18 reflex sympathetic dystrophy 11.4
19 endometriosis 11.4
20 loin pain hematuria syndrome 11.3
21 causalgia 11.3
22 trigeminal neuralgia 11.3
23 migraine with or without aura 1 11.3
24 osteoarthritis 11.3
25 neuropathy, hereditary sensory and autonomic, type vii 11.3
26 headache 11.3
27 jansen-de vries syndrome 11.3
28 herpes zoster 11.3
29 angina pectoris 11.3
30 pain sensitivity quantitative trait locus 1 11.2
31 sickle cell disease 11.2
32 radiculopathy 11.2
33 postherpetic neuralgia 11.2
34 marsili syndrome 11.2
35 spinal stenosis 11.2
36 eagle syndrome 11.2
37 corneal neuropathic disease 11.2
38 hemicrania continua 11.2
39 erythermalgia, primary 11.2
40 peripheral nervous system disease 11.2
41 rheumatoid arthritis 11.2
42 spondyloarthropathy 1 11.2
43 carpal tunnel syndrome 11.2
44 irritable bowel syndrome 11.2
45 diabetic neuropathy 11.1
46 congenital insensitivity to pain with severe intellectual disability 11.1
47 arthritis 11.1
48 pancreatitis 11.1
49 thoracic outlet syndrome 11.1
50 appendicitis 11.1

Graphical network of the top 20 diseases related to Episodic Pain Syndrome, Familial, 1:



Diseases related to Episodic Pain Syndrome, Familial, 1

Symptoms & Phenotypes for Episodic Pain Syndrome, Familial, 1

Human phenotypes related to Episodic Pain Syndrome, Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 pain 31 HP:0012531

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
tachycardia during pain episodes

Skin Nails Hair Skin:
enhanced secondary hyperalgesia and flare response on mustard oil application

Respiratory:
breathing difficulties during pain episodes

Neurologic Central Nervous System:
pain, episodic
pain affects upper body

Clinical features from OMIM®:

615040 (Updated 05-Apr-2021)

Drugs & Therapeutics for Episodic Pain Syndrome, Familial, 1

Drugs for Episodic Pain Syndrome, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1044)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Borage oil Approved, Investigational Phase 4
2
Ranitidine Approved, Withdrawn Phase 4 66357-35-5, 66357-59-3, 82530-72-1 3001055
3
Chloroprocaine Approved Phase 4 133-16-4 8612
4
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 4 62-90-8 229455
5
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
6
Dezocine Approved, Investigational Phase 4 53648-55-8 40841 3033053
7
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
8
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
12
Promethazine Approved, Investigational Phase 4 60-87-7 4927
13
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
14
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
15
Ephedrine Approved Phase 4 299-42-3 9294
16
Pseudoephedrine Approved Phase 4 90-82-4 7028
17
Nicotine Approved Phase 4 54-11-5 942 89594
18
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
19
Povidone Approved Phase 4 9003-39-8 131751496
20
Zoledronic Acid Approved Phase 4 118072-93-8 68740
21
Ondansetron Approved Phase 4 99614-02-5 4595
22
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
23
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
24
Povidone-iodine Approved Phase 4 25655-41-8
25
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
26
Dextropropoxyphene Approved, Illicit, Investigational, Withdrawn Phase 4 469-62-5 441275 25137868 15330
27
Cycloserine Approved Phase 4 68-41-7 401 6234
28
Methadone Approved Phase 4 76-99-3 4095
29
Pamidronate Approved Phase 4 40391-99-9 4674
30 Orange Approved Phase 4
31
Apomorphine Approved, Investigational Phase 4 41372-20-7, 58-00-4 6005
32
Nefopam Approved, Investigational Phase 4 13669-70-0
33
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
34
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
35
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
36
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
37
Carbidopa Approved Phase 4 28860-95-9 34359
38
Bromfenac Approved Phase 4 91714-94-2 60726
39
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
40 Ginger Approved Phase 4
41
Levodopa Approved Phase 4 59-92-7 6047
42
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
43
Ethyl chloride Approved, Experimental, Investigational Phase 4 75-00-3
44
Frovatriptan Approved, Investigational Phase 4 158747-02-5 77992
45
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
46
Flunarizine Approved Phase 4 52468-60-7 941361
47
Eletriptan Approved, Investigational Phase 4 143322-58-1 77993
48
Levetiracetam Approved Phase 4 102767-28-2 441341
49
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
50
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 A Preemptive Epidural Ropivacaine for Postoperative Pain Relief in Degenerative Lumbar Spine Surgery: A Prospective Randomized Study Unknown status NCT01117610 Phase 4 Placebo (one of medication);Ropivacaine (epidural injection)
2 Effects of Calot's Triangle Block for Postoperative Analgesia in Patients Undergoing Laparoscopic Cholecystectomy: a Prospective, Randomized, Double-blind, Controlled, Clinical Trial Unknown status NCT02300480 Phase 4
3 Botulinum Toxin A for the Treatment of Chronic Lumbar Back Pain: A Prospective Randomized Double-blind Placebo-controlled Crossover Study Unknown status NCT00404417 Phase 4 Botulinum Toxin A / Placebo;Botulinum Toxin A / Botulinum Toxin A;Placebo / Botulinum Toxin A;Placebo / Placebo
4 A Double-Blind, Placebo-Controlled, Crossover Pilot Study of the Efficacy of Celecoxib 200 Mg Qd in Relieving Pain and Walking Dysfunction in Osteoarthritis of the Knee Unknown status NCT00194090 Phase 4 celecoxib
5 Brain Mechanisms For Clinical Placebo in Chronic Pain: A Randomized Clinical Trial of Placebo, Active Treatment, and No Treatment in Chronic Back Pain Unknown status NCT02986334 Phase 4 Naproxen;Omeprazole;Placebo
6 Effect of Escitalopram vs. Reboxetine on Somatic and Visceral Sensitivity of Patients With Major Depressive Disorder: a Randomized, Double Blind Clinical Trial Unknown status NCT00209807 Phase 4 escitalopram;Reboxetine
7 Comparing Pain and Swelling After Surgical Extraction of Mandibular Third Molar in Dexamethasone Injection and Without Corticosteroid Methods Unknown status NCT01896427 Phase 4 21-benzyloxy-9alpha-fluoro-16alpha-methylpregna-1,4-dien-11beta,17alpha-diol-3,20-dione
8 Irritation and Anal Bleeding in Patients Affected by Hemorrhoids: Comparative Evaluation of Three Different Treatments. Unknown status NCT03569930 Phase 4 flavonoid-based supplements;Centella Complex
9 Comparison of Effect of Peritonsillar Infiltration of Ketamine and Tramadol on Pediatric Posttonsillectomy Pain: A Double-blinded Randomized Placebo-controlled Clinical Trial Unknown status NCT03067103 Phase 4 Tramadol;Ketamine;Placebos
10 Role of Peritubal Infiltration of 0.25% Bupivacaine in Percutaneous Nephrolithotomy (PCNL) in Postoperative Pain Control Unknown status NCT02198027 Phase 4 Bupivacaine
11 Effectiveness of Low Level Laser at the Auriculotherapy Points, in Reducing Postoperative Pain in Third Molar Surgery Unknown status NCT02657174 Phase 4
12 Evaluation of Analgesic Efficacy of Etoricoxib Compared With Ibuprofen in Third Molar Extraction Pain. Unknown status NCT00855777 Phase 4 etoricoxib;ibuprofen
13 Paroxetines Effect on Tramadols Metabolism and Pharmakodynamics: a Dose Response Study Unknown status NCT00785603 Phase 4 Paroxetine;Paroxetin placebo;Tramadol
14 Corticosteroids as Additive in Arthrocentesis of the Temporomandibular Joint: Double Blind, Randomised Controlled Trial of Effectiveness. Unknown status NCT01275014 Phase 4 Dexamethasone;Isotonic saline
15 Can the Use of Ultrasound to Guide the Insertion of a Needle for an Anterior Psoas Compartment Nerve Block Increase Its Efficacy in Comparison to Traditional Techniques Utilising Loss of Resistance and Nerve Stimulation? Unknown status NCT00696150 Phase 4
16 Percutaneous Ketamine Versus Lidocaine or Placebo, for Post-Surgery Analgesia, in Patients Undergoing Laparoscopic Partial Lung Resection Unknown status NCT00822133 Phase 4 lidocaine;ketamine;non-active drug cream
17 Intranasal Fentanyl in Treatment of Labour Pain - Efficacy and Safety Unknown status NCT02571179 Phase 4 intranasal fentanyl 50 microg dose up to 250 microg
18 Post-tonsillectomy Pain Control in Adults: a Randomized Prospective Study Unknown status NCT02358850 Phase 4 Norco (Hydrocodone and Acetaminophen);Percocet (Oxycodone and Acetaminophen);Dilaudid (hydromorphone);Tylenol (Acetaminophen)
19 Evaluation of the Efficacy and Tolerability of Etoricoxib Monotherapy Versus Combination Oxycodone-etoricoxib in Moderate to Severe Pain From Chronic Low Back Pain Unknown status NCT01344720 Phase 4 etoricoxib;oxycodone
20 Assessment of the Effectiveness of a Program of Preparation to Pregnancy and Delivery Unknown status NCT01155804 Phase 4
21 Efficacy of Intravenous Naproksen Sodium+Codein and Paracetamol+Codein on Postoperative Pain and Contramal Consumption After a Lumbar Disk Surgery Unknown status NCT02252614 Phase 4 naproxen sodium codein;paracetamol codein;Placebo
22 The Effect of Naproxen Sodium + Codeine, and Paracetamol+ Codeine on Postoperative Laminectomy Pain Unknown status NCT02255955 Phase 4 550 mg naproxen sodium and 30mg codeine;300 mg paracetamol and 30 mg codeine;placebo tablet
23 Effectiveness of Transversus Abdominis Plane Block Versus Quadratus Lumborum Technique in Patients After Cesarean Section Unknown status NCT02804126 Phase 4 Bupivacaine;Paracetamol;Metamizol;Ketoprofen;Morphine
24 Postoperative Analgesia With Transversus Abdominis Plane Block or Quadratus Lumborum Block in Patients After Cesarian Delivery Unknown status NCT03404908 Phase 4 Ropivacaine;paracetamol;metamizole;Ketoprofen;Morphine
25 Comparison Of The Effects Of Preoperative Melatonin Or Vitamin C Administration On Postoperative Analgesia Unknown status NCT02639741 Phase 4 Melatonin;Vitamin C
26 Caudal Dexmetedomedine Versus Magnesium in Orthopedic Pediatric Surgeries Unknown status NCT03460041 Phase 4 Magnesium Sulfate;Dexmetedomedine;Bupivacaine
27 Oxytocin vs. Prostaglandin for Induction of Labor in Primiparas With Prelabor Rupture of Membrane and Low Bishop Score: Randomized Control Study Unknown status NCT02801227 Phase 4 Oxytocin;Prostaglandin E2
28 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin
29 Prospective, Single Arm, Pilot Study Evaluating the Safety and Efficacy of Hyaluronan (Hylan GF-20) in Patients With Painful Shoulder Osteoarthritis Unknown status NCT00253799 Phase 4
30 Evaluation of the Impact of Subject and Staff Training on the Pregabalin vs. Placebo Difference in Subjects With Painful Diabetic Neuropathy (PDN) Unknown status NCT01770964 Phase 4 Pregabalin;placebo
31 National, Monocentric, Randomized, Double-blind, Controlled, Crossover Clinical Trial, to Evaluate the Non-inferiority of Pain Intensity After the Application of Recombinant Human Somatropin - Biomatrop (Biosintética Farmacêutica) in Relation to Recombinant Human Somatotropin - Hormotrop (Bergamo), Single Dose, in Healthy Subjects of Both Genders Unknown status NCT03634514 Phase 4 Recombinant human growth hormone - Biomatrop;Recombinant human growth hormone - Hormotrop
32 Botulinum A Toxin Intravesical Injections Versus Bladder Overdistension in the Treatment of Patients With Painful Bladder Syndrome: A Prospective Randomized Study Unknown status NCT01157507 Phase 4 Intravesical injection of Botulinum A Toxin;Placebo
33 Clinical Efficacy of Changing the InterStim® Parameters in Patients With Interstitial Cystitis/Painful Bladder Syndrome Unknown status NCT01312259 Phase 4
34 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
35 Efficacy and Safety Study of Guanxin Shutong Capsule to Treat Chronic Stable Angina: A Randomised, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02280850 Phase 4 Guanxin Shutong Capsule;Placebo Capsule;nitroglycerine
36 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
37 Effectiveness of Intraoperative Exparel, a Bupivacaine Liposome Injectable Suspension, for Postoperative Pain Control in Total Knee Arthroplasty: A Prospective, Randomized, Double Blind, Controlled Study Unknown status NCT02808728 Phase 4 Pain Cocktail with Exparel;Pain Cocktail with Ropivacaine
38 Sleep Intervention During Acute Lung Injury Unknown status NCT01050699 Phase 4 Dexmedetomidine;Midazolam and Fentanyl
39 Analgesic Effects of Local Anesthetic Serratus Plane Infiltration for Total Mastectomy Surgery: A Pilot Study Unknown status NCT02893384 Phase 4 Local Anesthetic Injection above the serratus anterior
40 Effect of Midazolam on Inflammatory Response and Organ Function in Mechanically Ventilated Sepsis Patients With Different Immune Status. Unknown status NCT02135055 Phase 4 Midazolam;Morphine
41 Comparative Intraindividual Study, About the Efficacy and Safety of Treatment of Actinic Keratoses With Photodynamic Therapy Between Acid Methyl Aminolevulinate Cream and Aminolevulinic Gel Unknown status NCT02647151 Phase 4 METHYLAMINOLEVULINATE HYDROCHLORIDE;AMINOLEVULINIC ACID HYDROCHLORIDE
42 Atomization of Fentanyl: A Randomized Comparison Study of Intranasal Versus Intravenous Fentanyl for Pre-hospital Pain Management Unknown status NCT00882960 Phase 4 intravenous fentanyl;intra-nasal fentanyl
43 Sequential Use of Propofol/Midazolam and Dexmedetomidine for Sedation in Mechenical Ventialtion Patients in ICU, A Randomized Controlled Study. Unknown status NCT02122055 Phase 4 Fentanyl;Propofol;Midazolam;Dexmedetomidine
44 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Chronic Lumbar Pain (Lbp) Unknown status NCT00444990 Phase 4
45 Comparison of Intravenous Ibuprofen and Paracetamol in Patients With Low Back Pain Presented to the Emergency Department: A Randomized, Double-Blind, Controlled Trial Unknown status NCT02836509 Phase 4 Paracetamol;Ibuprofen
46 The Role of Intra-operative Lidocaine Infusion in Preventing Chronic Post Surgical Pain After Video Assisted Thoracoscopic Surgery Unknown status NCT02862769 Phase 4 Lidocaine;Saline
47 Ketoprofen Gel vs Placebo in Patients Presented With Low-back Pain to Emergency Department: A Ranodmized Controlled Trial Unknown status NCT02491879 Phase 4 Ketoprofen
48 The Analgesic Effects of Morphine Versus Ketorolac in Low Back Pain Unknown status NCT02782286 Phase 4 Ketorolac;Morphine
49 Pharmacological Anxiolysis With Promethazine as an Adjunctive Therapy for Acute Low Back Pain in the Adult Emergency Department Unknown status NCT01129934 Phase 4 Morphine-Promethazine;morphine
50 Therapeutic Effects of Monochromatic Infrared Energy Therapy on Patients With Chronic Low Back Pain: A Double-Blind, Randomized, Placebo-Controlled Study Unknown status NCT01920971 Phase 4

Search NIH Clinical Center for Episodic Pain Syndrome, Familial, 1

Cochrane evidence based reviews: pain

Genetic Tests for Episodic Pain Syndrome, Familial, 1

Genetic tests related to Episodic Pain Syndrome, Familial, 1:

# Genetic test Affiliating Genes
1 Familial Episodic Pain Syndrome 1 29 TRPA1

Anatomical Context for Episodic Pain Syndrome, Familial, 1

MalaCards organs/tissues related to Episodic Pain Syndrome, Familial, 1:

40
Spinal Cord, Bone, Skin, Eye, Prostate, Cortex, Liver

Publications for Episodic Pain Syndrome, Familial, 1

Articles related to Episodic Pain Syndrome, Familial, 1:

# Title Authors PMID Year
1
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. 6 57
20547126 2010

Variations for Episodic Pain Syndrome, Familial, 1

ClinVar genetic disease variations for Episodic Pain Syndrome, Familial, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSC-AS1 , TRPA1 NM_007332.3(TRPA1):c.2564A>G (p.Asn855Ser) SNV Pathogenic 39602 rs398123010 GRCh37: 8:72946604-72946604
GRCh38: 8:72034369-72034369
2 TRPA1 NM_007332.3(TRPA1):c.925C>T (p.His309Tyr) SNV Uncertain significance 1034381 GRCh37: 8:72973879-72973879
GRCh38: 8:72061644-72061644
3 MSC-AS1 , TRPA1 NM_007332.3(TRPA1):c.2194C>G (p.Pro732Ala) SNV Uncertain significance 689623 rs1585851954 GRCh37: 8:72951201-72951201
GRCh38: 8:72038966-72038966
4 MSC-AS1 , TRPA1 NM_007332.3(TRPA1):c.2366C>T (p.Ala789Val) SNV Uncertain significance 930526 GRCh37: 8:72950237-72950237
GRCh38: 8:72038002-72038002

UniProtKB/Swiss-Prot genetic disease variations for Episodic Pain Syndrome, Familial, 1:

72
# Symbol AA change Variation ID SNP ID
1 TRPA1 p.Asn855Ser VAR_069737 rs398123010

Expression for Episodic Pain Syndrome, Familial, 1

Search GEO for disease gene expression data for Episodic Pain Syndrome, Familial, 1.

Pathways for Episodic Pain Syndrome, Familial, 1

GO Terms for Episodic Pain Syndrome, Familial, 1

Sources for Episodic Pain Syndrome, Familial, 1

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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