FEPS1
MCID: EPS039
MIFTS: 40

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 74 72
Familial Episodic Pain Syndrome 1 29 6
Feps1 57 74
Familial Episodic Pain Syndrome with Predominantly Upper Body Involvement 59
Pain 44

Characteristics:

Orphanet epidemiological data:

59
familial episodic pain syndrome with predominantly upper body involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
episodic pain syndrome, familial, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D010146
ICD10 via Orphanet 34 M79.6
Orphanet 59 ORPHA391389
UMLS 72 C3808667

Summaries for Episodic Pain Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 74 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 paine 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 Alfentanil and Imipramine have been mentioned in the context of this disorder. Affiliated tissues include breast, spinal cord and testes, and related phenotype is pain.

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)

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 3680)
# Related Disease Score Top Affiliating Genes
1 paine syndrome 12.8
2 chronic pain 12.7
3 paroxysmal extreme pain disorder 12.7
4 back pain 12.7
5 complex regional pain syndrome 12.7
6 insensitivity to pain, congenital, with anhidrosis 12.6
7 indifference to pain, congenital, autosomal recessive 12.6
8 persistent idiopathic facial pain 12.6
9 central pain syndrome 12.6
10 familial episodic pain syndrome 12.6
11 myofascial pain syndrome 12.5
12 pain agnosia 12.5
13 patellofemoral pain syndrome 12.5
14 episodic pain syndrome, familial, 2 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 callosities, hereditary painful 12.3
20 neuropathy, hereditary sensory and autonomic, type v 12.3
21 congenital insensitivity to pain with hyperhidrosis 12.3
22 interstitial cystitis 12.3
23 neuropathy, painful 12.2
24 insensitivity to pain with hyperplastic myelinopathy 12.2
25 bone pain, periodic 12.2
26 pelger-huet-like anomaly and episodic fever with abdominal pain 12.2
27 fibromyalgia 12.2
28 congenital insensitivity to pain with severe intellectual disability 12.2
29 obsolete: other muscle weakness and/or chronic muscle pain 12.1
30 obsolete: chronic muscular fatigue and/or chronic muscle pain 12.1
31 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain 12.1
32 chronic pain requiring intraspinal analgesia 12.1
33 reflex sympathetic dystrophy 12.0
34 neuropathy, hereditary sensory and autonomic, type vii 12.0
35 causalgia 11.9
36 tolosa-hunt syndrome 11.9
37 myotonia, potassium-aggravated 11.9
38 gardner-diamond syndrome 11.8
39 corneal neuropathic disease 11.8
40 jansen-de vries syndrome 11.8
41 eagle syndrome 11.8
42 marsili syndrome 11.8
43 charcot-marie-tooth disease, axonal, type 2v 11.7
44 eosinophilia-myalgia syndrome 11.7
45 endometriosis 11.6
46 trigeminal neuralgia 11.6
47 migraine with or without aura 1 11.6
48 herpes zoster 11.6
49 osteoarthritis 11.6
50 headache 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:

32
# Description HPO Frequency HPO Source Accession
1 pain 32 HP:0012531

Symptoms via clinical synopsis from OMIM:

57
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 864)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
2
Imipramine Approved Phase 4 50-49-7 3696
3
Dezocine Approved, Investigational Phase 4 53648-55-8 3033053 40841
4 Pinaverium Approved Phase 4 59995-65-2
5
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
6
Cefmetazole Approved, Investigational Phase 4 56796-20-4 42008
7
Hydroxyzine Approved Phase 4 68-88-2 3658
8
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
9
Nefopam Approved, Investigational Phase 4 13669-70-0
10
Colchicine Approved Phase 4 64-86-8 6167 2833
11
Apomorphine Approved, Investigational Phase 4 41372-20-7, 58-00-4 6005
12 Ginger Approved Phase 4
13
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
14
Promethazine Approved, Investigational Phase 4 60-87-7 4927
15
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
16
Ephedrine Approved Phase 4 299-42-3 9294
17
Pseudoephedrine Approved Phase 4 90-82-4 7028
18
Cyclobenzaprine Approved Phase 4 303-53-7 2895
19
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
20
Lornoxicam Approved, Investigational Phase 4 70374-39-9 5282204
21
Procaine Approved, Investigational, Vet_approved Phase 4 59-46-1 4914
22
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
23
Tizanidine Approved, Investigational Phase 4 51322-75-9 5487
24
Methocarbamol Approved, Vet_approved Phase 4 532-03-6 4107
25
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
26
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
27
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
28
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
29
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
30
Dipivefrin Approved Phase 4 52365-63-6 3105
31
Cycloserine Approved Phase 4 68-41-7 6234 401
32
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
33
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
34
Opium Approved, Illicit Phase 4 8008-60-4
35
Belladonna Approved, Experimental Phase 4
36
Nabilone Approved, Investigational Phase 4 51022-71-0 5284592
37
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
38
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
39
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
40
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
41
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
42
Phenylephrine Approved Phase 4 59-42-7 6041
43
Mefenamic acid Approved Phase 4 61-68-7 4044
44
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
45
Butorphanol Approved, Illicit, Vet_approved Phase 4 58786-99-5, 42408-82-2 5361092
46
Eletriptan Approved, Investigational Phase 4 143322-58-1 77993
47
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
48
Sertraline Approved Phase 4 79617-96-2 68617
49
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
50
Granisetron Approved, Investigational Phase 4 109889-09-0 3510

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 A Randomized, Placebo-Controlled, Double-Blind, Two-Part, Cross-over Study to Compare the Reduction in Pain Intensity After Single-Dose Administration of IV or Oral Acetaminophen and IV Morphine by Using UVB or IDC Pain Models Unknown status NCT02678416 Phase 4 IV Acetaminophen;IV Morphine;Acetaminophen tablets
4 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
5 Ketoprofen Gel vs Placebo in Patients Presented With Low-back Pain to Emergency Department: A Ranodmized Controlled Trial Unknown status NCT02491879 Phase 4 Ketoprofen
6 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
7 Comparison of Two Different Circumcision Surgical Technique on Postoperative Pain Unknown status NCT01909765 Phase 4
8 Ultrasound-guided Quadratus Lumborum Block for Postoperative Analgesia After Colostomy: A Randomized Controlled Trial Unknown status NCT02691403 Phase 4 levo-bupivacaine;normal saline
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 Intranasal Fentanyl in Treatment of Labour Pain - Efficacy and Safety Unknown status NCT02571179 Phase 4 intranasal fentanyl 50 microg dose up to 250 microg
11 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
12 Naproxen for Acute Pain After Surgery: A Randomized, Placebo-Controlled Trial Unknown status NCT00615875 Phase 4 naproxen;placebo
13 The Safety and Efficacy of 5% Lidocaine Patch and Flurbiprofen Patch for Relieving Acute Low Back Pain Unknown status NCT03171987 Phase 4 Lidocaine patch local application;Flurbiprofen patch local application
14 Continuous Infusion of Local Anesthetic for Optimal Post Operative Pain Control Following Hemorrhoidectomy: A Randomized Double-blind Controlled Trial Unknown status NCT01099605 Phase 4
15 Therapeutic Effects of Video Game Play Therapy on Patients With Chronic Low Back Pain:Randomized-Controlled Clinical Trail Unknown status NCT02125968 Phase 4
16 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
17 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
18 Phase 4 Study of Topical NSAID for Ophthalmologic Use: Pain Measurement After First Drop. Unknown status NCT00869219 Phase 4 Nevanac;Acular LS
19 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
20 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
21 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
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 The Impact of Perioperative Gabapentin on Chronic Groin Pain After Inguinal Hernia Repair Unknown status NCT02419443 Phase 4 Gabapentin;Placebo
25 Phase IV Pilot Study of Ulipristal Acetate for Treatment of Endometriosis-related Pelvic Pain Unknown status NCT02213081 Phase 4 Ulipristal
26 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
27 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
28 Intravenous Terbutaline to Facilitate Epidural Catheter Placement for Parturients With Labor Pain Unknown status NCT01651962 Phase 4 Terbutaline;Fentanyl;0.9% NaCl
29 The Effect of Oxycodone to the Placental Circulation at Early Labour Unknown status NCT02573831 Phase 4 Oxycodone;Placebo
30 Effect of Intravenous Lidocaine on Postoperative Pain Management After Laparoscopy Cholecystectomy Unknown status NCT02997215 Phase 4 Lidocaine;Saline Placebo
31 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Chronic Lumbar Pain (Lbp) Unknown status NCT00444990 Phase 4
32 Effect of the Administration of Etoricoxib on Postoperative Pain and Quality of Recovery in Patients Undergoing Thyroid Surgery Unknown status NCT00935116 Phase 4 etoricoxib
33 Comparison of TAP Block With Two Different Doses of Levobupivacaine for Postoperative Pain Management in Pediatric Patients Unknown status NCT02567487 Phase 4 Levobupivacaine
34 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
35 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)
36 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
37 Lidocaine Patch for Postoperative Analgesia After Laparoscopic Cholecystectomy Unknown status NCT01485939 Phase 4
38 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
39 Comparison of 2 Methods to Reduce Postoperative Pain in Children and a Comparison of 3 Methods of Preoperative Education Intervention to Reduce Anxiety in Children and Their Family Unknown status NCT00643032 Phase 4
40 Preemptive Paracetamol for Postoperative Pain: a Randomised, Double-blind, Two Way Crossover Trial Unknown status NCT02425254 Phase 4 Intravenous paracetamol;Intravenous saline 0.9%
41 The Effect of Esmolol on Pain Due to Rocuronium Injection Pain Unknown status NCT01824758 Phase 4 Lidocaine;Esmolol;rocuronium;Placebo
42 Role of Peritubal Infiltration of 0.25% Bupivacaine in Percutaneous Nephrolithotomy (PCNL) in Postoperative Pain Control Unknown status NCT02198027 Phase 4 Bupivacaine
43 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
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 The Analgesic Effects of Morphine Versus Ketorolac in Low Back Pain Unknown status NCT02782286 Phase 4 Ketorolac;Morphine
47 Comparison of the Two Different Doses of Dexamethasone on Persistent Mastectomy Pain Unknown status NCT02551133 Phase 4 dexamethasone
48 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 %
49 The Effect of Angiotensin II Receptor Antagonists on Acute and Chronic Postoperative Pain in Patients Treated for Hypertension. Unknown status NCT02513979 Phase 4 Angiotensin type II receptor antagonists
50 Efficacy of Extended-Release Liposomal Bupivacaine for Post-Operative Pain Management Following Urogynecologic Surgery: A Prospective, Randomized, Double-Blinded, Placebo-Controlled Trial Unknown status NCT02287246 Phase 4 Extended-Release liposomal bupivacaine (Exparel);Normal saline

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:

41
Breast, Spinal Cord, Testes, Bone, Brain, 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. 8 71
20547126 2010

Variations for Episodic Pain Syndrome, Familial, 1

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPA1 NM_007332.3(TRPA1): c.2564A> G (p.Asn855Ser) single nucleotide variant Pathogenic rs398123010 8:72946604-72946604 8:72034369-72034369

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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