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 56 73 71
Familial Episodic Pain Syndrome 1 12 29 6 15
Feps1 56 12 73
Familial Episodic Pain Syndrome with Predominantly Upper Body Involvement 58
Pain 43

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:

56
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 56 615040
OMIM Phenotypic Series 56 PS615040
MeSH 43 D010146
ICD10 via Orphanet 33 M79.6
Orphanet 58 ORPHA391389
SNOMED-CT via HPO 68 22253000 263681008
UMLS 71 C3808667

Summaries for Episodic Pain Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 73 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 chronic pain and paroxysmal extreme pain disorder. An important gene associated with Episodic Pain Syndrome, Familial, 1 is TRPA1 (Transient Receptor Potential Cation Channel Subfamily A Member 1). The drugs Coal tar and Ephedrine have been mentioned in the context of this disorder. Affiliated tissues include breast, spinal cord and testes, 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 : 56 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)

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 3694)
# Related Disease Score Top Affiliating Genes
1 chronic pain 12.7
2 paroxysmal extreme pain disorder 12.7
3 paine syndrome 12.7
4 back pain 12.7
5 complex regional pain syndrome 12.7
6 insensitivity to pain, congenital, with anhidrosis 12.6
7 familial episodic pain syndrome 12.6
8 indifference to pain, congenital, autosomal recessive 12.6
9 persistent idiopathic facial pain 12.6
10 central pain syndrome 12.6
11 myofascial pain syndrome 12.5
12 episodic pain syndrome, familial, 2 12.5
13 pain agnosia 12.5
14 patellofemoral pain syndrome 12.5
15 loin pain hematuria syndrome 12.4
16 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 12.4
17 painful legs and moving toes syndrome 12.4
18 pain sensitivity quantitative trait locus 1 12.3
19 neuropathy, hereditary sensory and autonomic, type v 12.3
20 callosities, hereditary painful 12.3
21 congenital insensitivity to pain with hyperhidrosis 12.3
22 interstitial cystitis 12.3
23 neuropathy, painful 12.3
24 insensitivity to pain with hyperplastic myelinopathy 12.3
25 ntrk1 congenital insensitivity to pain with anhidrosis 12.2
26 scn9a neuropathic pain syndromes 12.2
27 bone pain, periodic 12.2
28 pelger-huet-like anomaly and episodic fever with abdominal pain 12.2
29 fibromyalgia 12.2
30 congenital insensitivity to pain with severe intellectual disability 12.2
31 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain 12.1
32 reflex sympathetic dystrophy 12.0
33 neuropathy, hereditary sensory and autonomic, type vii 12.0
34 causalgia 12.0
35 tolosa-hunt syndrome 11.9
36 marsili syndrome 11.9
37 myotonia, potassium-aggravated 11.9
38 gardner-diamond syndrome 11.8
39 jansen-de vries syndrome 11.8
40 corneal neuropathic disease 11.8
41 eagle syndrome 11.8
42 charcot-marie-tooth disease, axonal, type 2v 11.7
43 eosinophilia-myalgia syndrome 11.7
44 endometriosis 11.6
45 trigeminal neuralgia 11.6
46 herpes zoster 11.6
47 migraine with or without aura 1 11.6
48 osteoarthritis 11.6
49 headache 11.6
50 angina pectoris 11.6

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:

56
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

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 769)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 4 8007-45-2
2
Ephedrine Approved Phase 4 299-42-3 9294
3
Pseudoephedrine Approved Phase 4 90-82-4 7028
4 Orange Approved Phase 4
5
Flunarizine Approved Phase 4 52468-60-7 941361
6
Nalbuphine Approved Phase 4 20594-83-6 5311304 5360630
7
Imipramine Approved Phase 4 50-49-7 3696
8
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
9 Pinaverium Approved Phase 4 59995-65-2
10
Hydroxyzine Approved Phase 4 68-88-2 3658
11
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
12
Nefopam Approved, Investigational Phase 4 13669-70-0
13 Ginger Approved Phase 4
14
Apomorphine Approved, Investigational Phase 4 41372-20-7, 58-00-4 6005
15
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
16
Cyclobenzaprine Approved Phase 4 303-53-7 2895
17
Lornoxicam Approved, Investigational Phase 4 70374-39-9 5282204
18
Methocarbamol Approved, Vet_approved Phase 4 532-03-6 4107
19
Tizanidine Approved, Investigational Phase 4 51322-75-9 5487
20
Levetiracetam Approved Phase 4 102767-28-2 441341
21
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
22
Zoledronic Acid Approved Phase 4 118072-93-8 68740
23
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
24
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
25
Dipivefrin Approved Phase 4 52365-63-6 3105
26
Cycloserine Approved Phase 4 68-41-7 401 6234
27
Nabilone Approved, Investigational Phase 4 51022-71-0 5284592
28
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
29
Opium Approved, Illicit Phase 4 8008-60-4
30
Glycerol Approved, Investigational Phase 4 56-81-5 753
31
Belladonna Approved, Experimental Phase 4
32
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
33
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
34
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
35
Chlorzoxazone Approved Phase 4 95-25-0 2733
36
Butorphanol Approved, Illicit, Vet_approved Phase 4 58786-99-5, 42408-82-2 5361092
37
Mefenamic acid Approved Phase 4 61-68-7 4044
38
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
39
Tenoxicam Approved Phase 4 59804-37-4 5312154
40
Caffeine Approved Phase 4 58-08-2 2519
41
Eletriptan Approved, Investigational Phase 4 143322-58-1 77993
42
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
43
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
44
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
45
Sertraline Approved Phase 4 79617-96-2 68617
46
Pantoprazole Approved Phase 4 102625-70-7 4679
47
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
48
Tropisetron Approved, Investigational Phase 4 89565-68-4, 105826-92-4 5595
49
Haloperidol Approved Phase 4 52-86-8 3559
50
Metaxalone Approved Phase 4 1665-48-1 15459

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Effect of Ketalar to Prevent Postoperative Chronic Pain After Mastectomy Unknown status NCT00129597 Phase 4 ketalar
2 Pain Scale in the Use of Topical Anesthesia in Small Gauge Vitrectomy Unknown status NCT01022879 Phase 4
3 Assessment of Pregabalin Efficacy for the Treatment and Prevention of At-level Non-evoked and Evoked Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
4 Ketoprofen Gel vs Placebo in Patients Presented With Low-back Pain to Emergency Department: A Ranodmized Controlled Trial Unknown status NCT02491879 Phase 4 Ketoprofen
5 Efficacy and Safety of Intranasal Ketorolac Tromethamine (SPRIX) as a Short Term Pain Management Tool for Adult Male Patients With Post-Vasectomy Pain Unknown status NCT02000388 Phase 4 Ketorolac Tromethamine
6 Comparison of Two Different Circumcision Surgical Technique on Postoperative Pain Unknown status NCT01909765 Phase 4
7 Ultrasound-guided Quadratus Lumborum Block for Postoperative Analgesia After Colostomy: A Randomized Controlled Trial Unknown status NCT02691403 Phase 4 levo-bupivacaine;normal saline
8 Intranasal Fentanyl in Treatment of Labour Pain - Efficacy and Safety Unknown status NCT02571179 Phase 4 intranasal fentanyl 50 microg dose up to 250 microg
9 An Enriched Enrollment, Double-Blind, Placebo-Controlled, Parallel Group, Randomized Withdrawal Trial to Evaluate the Efficacy, Tolerability and Safety of Etoricoxib (Arcoxia) in Patients With Moderate to Severe Neuropathic Pain Unknown status NCT01264237 Phase 4 Etoricoxib;Placebo
10 Continuous Infusion of Local Anesthetic for Optimal Post Operative Pain Control Following Hemorrhoidectomy: A Randomized Double-blind Controlled Trial Unknown status NCT01099605 Phase 4
11 Naproxen for Acute Pain After Surgery: A Randomized, Placebo-Controlled Trial Unknown status NCT00615875 Phase 4 naproxen;placebo
12 The Effect of Ketamine Infusion for Reduction of Neuropathic Pain and Improvement of Quality of Life After Lumbar Surgery Unknown status NCT02154438 Phase 4 Ketamine
13 Therapeutic Effects of Video Game Play Therapy on Patients With Chronic Low Back Pain:Randomized-Controlled Clinical Trail Unknown status NCT02125968 Phase 4
14 Lidocaine for Pain Control During Intrauterine Device Insertion: A Randomized Clinical Trial Unknown status NCT03362905 Phase 4 Lidocaine topical
15 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
16 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
17 Phase 4 Study of Topical NSAID for Ophthalmologic Use: Pain Measurement After First Drop. Unknown status NCT00869219 Phase 4 Nevanac;Acular LS
18 Efficacy and Safety of Dexamethasone Versus Betamethasone Epidural Caudal Administration for Treatment of Lumbosacral Radiculalgia: Randomized Clinical Trial Unknown status NCT02833116 Phase 4 Betamethasone;Dexamethasone
19 Comparison of Ketoprofen Gel to Placebo in Patients Presented With Mechanical Low Back Pain to the Emergency Department: A Randomized Placebo Controlled Trial Unknown status NCT02619695 Phase 4 Fastjel
20 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
21 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
22 Port Site Infiltration With Bupivacaine for Reduction of Postoperative Pain in Woman Undergoing Gynecologic Laparoscopy: A Randomized, Factorial, Double-Blind, Controlled Trial Unknown status NCT03259243 Phase 4 Bupivacaine Hydrochloride
23 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
24 Low Dose Intraoperative Intravenous Ketamine Combination With Spinal Morphine for Post Thoracic Surgery Pain : A Randomized Control Study Unknown status NCT02570230 Phase 4 Ketamine
25 The Impact of Perioperative Gabapentin on Chronic Groin Pain After Inguinal Hernia Repair Unknown status NCT02419443 Phase 4 Gabapentin;Placebo
26 Neurologic Signatures of Chronic Pain Disorders Unknown status NCT02747940 Phase 4 flunarizine and/or pregabalin
27 Phase IV Pilot Study of Ulipristal Acetate for Treatment of Endometriosis-related Pelvic Pain Unknown status NCT02213081 Phase 4 Ulipristal
28 Chronic Significant Pain and Functional Outcome After Laparoscopic Versus Open Groin Hernia Mesh Repair: Design of a Randomized Controlled Clinical Trial Unknown status NCT00625534 Phase 4
29 The Effect of Oxycodone to the Placental Circulation at Early Labour Unknown status NCT02573831 Phase 4 Oxycodone;Placebo
30 Prospective, Randomized, Controlled Comparison of Local Anesthetic Infusion Pump Versus DepoFoam Bupivacaine For Pain Management After Abdominoplasty and TRAM Flap Breast Reconstruction. Unknown status NCT02542956 Phase 4 Exparel;Marcaine;Marcaine
31 Effect of Three Therapeutic Strategies on the Restriction of the Participation of Patients With a Chronic Back Pain : Multidisciplinary is it the Key Component ? Unknown status NCT02030171 Phase 4
32 Influence of Anesthetic Technique on Acute and Chronic Neuropathic Pain Unknown status NCT02527083 Phase 4 Propofol;Sevoflurane;Remifentanil;Ketamine
33 Intravenous Terbutaline to Facilitate Epidural Catheter Placement for Parturients With Labor Pain Unknown status NCT01651962 Phase 4 Terbutaline;Fentanyl;0.9% NaCl
34 Effect of Intravenous Lidocaine on Postoperative Pain Management After Laparoscopy Cholecystectomy Unknown status NCT02997215 Phase 4 Lidocaine;Saline Placebo
35 a Randomized Controlled Trial of Dexmedetomidine on Chronic Postoperative Pain After Breast and Thoracic Surgery Unknown status NCT03275207 Phase 4 saline;dexmedetomidine
36 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Chronic Lumbar Pain (Lbp) Unknown status NCT00444990 Phase 4
37 Comparison of TAP Block With Two Different Doses of Levobupivacaine for Postoperative Pain Management in Pediatric Patients Unknown status NCT02567487 Phase 4 Levobupivacaine
38 Effect of the Administration of Etoricoxib on Postoperative Pain and Quality of Recovery in Patients Undergoing Thyroid Surgery Unknown status NCT00935116 Phase 4 etoricoxib
39 The Comparison of 0.15 Milligram Spinal Morphine vs.no Treatment for Morphine Requirement After Video-assisted Thoracoscopic Surgery. A Pilot Randomized Control Study Unknown status NCT01979354 Phase 4 Spinal morphine
40 Effect of Intraoperative Nefopam on Acute Pain After Remifentanil Based Anesthesia Unknown status NCT02493231 Phase 4 Nefopam;Ketamine;Saline
41 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? A Randomized, Double-blinded, Placebo-controlled, Crossover Study. Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
42 Efficacy of Transdermal Fentanyl Patches in Relief of Acute Postoperative Pain After Mastectomy Unknown status NCT03051503 Phase 4 The Transdermal Therapeutic System-Fentanyl (TTS-F)
43 Preemptive Paracetamol for Postoperative Pain: a Randomised, Double-blind, Two Way Crossover Trial Unknown status NCT02425254 Phase 4 Intravenous paracetamol;Intravenous saline 0.9%
44 Local Infiltration Analgesia With Ropivacaine Versus Placebo in Bilateral Hip Arthroplasty Unknown status NCT00864409 Phase 4 ropivacaine 0,2%;saline.9%
45 Evaluation of Analgesic Efficacy of Etoricoxib Compared With Ibuprofen in Third Molar Extraction Pain. Unknown status NCT00855777 Phase 4 etoricoxib;ibuprofen
46 Comparison of the Two Different Doses of Dexamethasone on Persistent Mastectomy Pain Unknown status NCT02551133 Phase 4 dexamethasone
47 A Comparison Between Lidocaine-Prilocaine Cream (EMLA) Application And Wound Infiltration With Lidocaine For Post Caesarean Section Pain Relief : A Randomized Controlled Trial Unknown status NCT02549105 Phase 4 EMLA CREAM 5 mg;LIDOCAINE 1 %
48 The Analgesic Effects of Morphine Versus Ketorolac in Low Back Pain Unknown status NCT02782286 Phase 4 Ketorolac;Morphine
49 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
50 Intraartikulær Versus ekstraartikulær Bolus Injektion Med Ropivacain Ved Total knæalloplastik: et Prospektivt, Randomiseret, Dobbeltblindet, Kontrolleret Studie Unknown status NCT00632580 Phase 4 intraarticular injection with ropivacaine;extraarticular injection with ropivacaine

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
Breast, Spinal Cord, Testes, Brain, Bone, Skin, Prostate

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. 56 6
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 GRCh37 Pos GRCh38 Pos
1 TRPA1 NM_007332.3(TRPA1):c.2564A>G (p.Asn855Ser)SNV Pathogenic 39602 rs398123010 8:72946604-72946604 8:72034369-72034369
2 TRPA1 NM_007332.3(TRPA1):c.2194C>G (p.Pro732Ala)SNV Uncertain significance 689623 8:72951201-72951201 8:72038966-72038966

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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