MCID: EPS039
MIFTS: 33

Episodic Pain Syndrome, Familial, 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Episodic Pain Syndrome, Familial, 1

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

Name: Episodic Pain Syndrome, Familial, 1 53 71 69
Feps1 53 71
Familial Episodic Pain Syndrome with Predominantly Upper Body Involvement 55
Familial Episodic Pain Syndrome 1 28
Pain 41

Characteristics:

Orphanet epidemiological data:

55
familial episodic pain syndrome with predominantly upper body involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 615040
Orphanet 55 ORPHA391389
ICD10 via Orphanet 33 M79.6
MeSH 41 D010146
SNOMED-CT via HPO 65 263681008 22253000
UMLS 69 C3808667

Summaries for Episodic Pain Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 71 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 feps1, is related to paine syndrome and paroxysmal extreme pain disorder, and has symptoms including pain An important gene associated with Episodic Pain Syndrome, Familial, 1 is TRPA1 (Transient Receptor Potential Cation Channel Subfamily A Member 1).

OMIM : 53 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 all 11)
# Related Disease Score Top Affiliating Genes
1 paine syndrome 12.4
2 paroxysmal extreme pain disorder 12.4
3 complex regional pain syndrome 12.3
4 chronic pain 12.3
5 insensitivity to pain, congenital, with anhidrosis 12.3
6 indifference to pain, congenital, autosomal recessive 12.3
7 back pain 12.3
8 central pain syndrome 12.2
9 persistent idiopathic facial pain 12.2
10 myofascial pain syndrome 12.2
11 episodic pain syndrome, familial, 3 11.0

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

Symptoms via clinical synopsis from OMIM:

53
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

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

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

Drugs & Therapeutics for Episodic Pain Syndrome, Familial, 1

Search Clinical Trials , 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 28 TRPA1

Anatomical Context for Episodic Pain Syndrome, Familial, 1

Publications for Episodic Pain Syndrome, Familial, 1

Articles related to Episodic Pain Syndrome, Familial, 1:

(show top 50) (show all 10592)
# Title Authors Year
1
Chronic pain, discomfort, quality of life and impact on sex life after open inguinal hernia mesh repair: an expertise-based randomized clinical trial comparing lightweight and heavyweight mesh. ( 29353339 )
2018
2
Cumulative effects of multiple pains sites in youth with chronic pain. ( 29436161 )
2018
3
Prioritizing pediatric chronic pain and comprehensive pain treatment in the context of the opioid epidemic. ( 29451426 )
2018
4
Immediate Changes After Manual Therapy in Patients With Persistent, Nonspecific Back Pain: A Randomized Controlled Trial. ( 29428926 )
2018
5
A brain-based pain facilitation mechanism contributes to painful diabetic polyneuropathy. ( 29346515 )
2018
6
Is burning mouth syndrome a neuropathic pain condition? ( 29257770 )
2018
7
Combined Autograft and Bone Cement for Painful Chondroblastoma: A Case Report. ( 29307744 )
2018
8
Low back pain and gastroesophageal reflux in patients with COPD: the disease in the breath. ( 29403270 )
2018
9
Reciprocal associations of pain and post-traumatic stress symptoms after whiplash injury: A longitudinal, cross-lagged study. ( 29377453 )
2018
10
Stubborn heel pain: Treatment of plantar fasciitis using high-load strength training. ( 29358253 )
2018
11
Advances in intravesical therapy for bladder pain syndrome (BPS)/interstitial cystitis (IC). ( 29341502 )
2018
12
Research Design Characteristics of Published Pharmacologic Randomized Clinical Trials for Irritable Bowel Syndrome and Chronic Pelvic Pain Conditions: an Acttion Systemic Review. ( 29412183 )
2018
13
Open-to-Air Is a Viable Option for Initial Wound Care in Necrotizing Soft Tissue Infection that Allows Early Detection of Recurrence without Need for Painful Dressing Changes or Return to Operating Room. ( 29211657 )
2018
14
Catastrophizing, pain and traumatic stress symptoms following burns: A prospective study. ( 29436110 )
2018
15
Clinician, patient and general public beliefs about diagnostic imaging for low back pain: protocol for a qualitative evidence synthesis. ( 29440161 )
2018
16
Trunk postural balance and low back pain: Reliability and relationship with clinical changes following a lumbar stabilization exercise program. ( 29448220 )
2018
17
Plasma IL-8 signature correlates with pain and depressive symptomatology in patients with burning mouth syndrome: Results from a pilot study. ( 29194773 )
2018
18
IL-18 Contributes to Bone Cancer Pain by Regulating Glia Cells and Neuron Interaction. ( 29079540 )
2018
19
The Burden of Opioid-Induced Constipation in Younger Patients with Chronic Noncancer Pain. ( 29420795 )
2018
20
Current clinical, radiological and treatment perspectives of patellofemoral pain syndrome. ( 29303366 )
2018
21
Complex Regional Pain Syndrome After Distal Radius Fracture Is Uncommon and Is Often Associated With Fibromyalgia. ( 29419627 )
2018
22
Long-term use of naldemedine in the treatment of opioid-induced constipation in patients with chronic non-cancer pain: a randomized, double-blind, placebo-controlled phase 3 study. ( 29419653 )
2018
23
Diabetic neuropathy and painful diabetic neuropathy: Cinderella complications in South East Asia. ( 29371725 )
2018
24
The potential role of angiogenesis in the development of shoulder pain, shoulder dysfunction, and lymphedema after breast cancer treatment. ( 29391829 )
2018
25
Presence of pain on three or more days of the week is associated with worse patient reported outcomes in adults with sickle cell disease. ( 29445298 )
2018
26
Transcutaneous electrical nerve stimulation and interferential current demonstrate similar effects in relieving acute and chronic pain: a systematic review with meta-analysis. ( 29426587 )
2018
27
Telotristat Ethyl for Patients With Carcinoid Syndrome Associated With Chest Pain and Hypertension. ( 29232344 )
2018
28
Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity. ( 29149236 )
2018
29
Superior Mesenteric Artery Syndrome: An Uncommon Cause of Abdominal Pain. ( 29336988 )
2018
30
FDA Brudac 2018 Criteria for Interstitial Cystitis/Bladder Pain Syndrome Clinical Trials: Future Direction for IC/BPS Research. ( 29452126 )
2018
31
Attitudes of Irish patients with chronic pain towards medicinal cannabis. ( 29423824 )
2018
32
Clinimetric properties of the Nepali version of the Pain Catastrophizing Scale in individuals with chronic pain. ( 29430196 )
2018
33
Exacerbation of chronic pain after dental extractions in a patient with post-treatment Lyme disease syndrome. ( 29416466 )
2018
34
Long-term variability of sleep bruxism and psychological stress in patients with jaw-muscle pain: Report of two longitudinal clinical cases. ( 29197103 )
2018
35
Effectiveness of conservative treatment for patellofemoral pain syndrome: A systematic review and meta-analysis. ( 29392329 )
2018
36
Questionnaire-based Analysis of Owner-reported Scratching andA Pain Signs in Cavalier King Charles Spaniels Screened for Chiari-like Malformation and Syringomyelia. ( 29105875 )
2018
37
Acute Shoulder Pain Followed by Shoulder Weakness and Atrophy: A Characteristic Presentation of Parsonage-Turner Syndrome. ( 28956267 )
2018
38
Neurophysiological Pain-education for Patients with Chronic Low Back Pain - A Systematic Review and Meta-analysis. ( 29443723 )
2018
39
Utility of Radionuclide Bone Scintigraphy in Complex Regional Pain Syndrome. ( 29388057 )
2018
40
Computerised training improves cognitive performance in chronic pain: a participant-blinded randomised active-controlled trial with remote supervision. ( 29447133 )
2018
41
Chronic back pain cured by low-dose levodopa: is it a variant of restless legs syndrome? ( 29440925 )
2018
42
Function, Shoulder Motion, Pain, and Lymphedema in Breast Cancer With and Without Axillary Web Syndrome: An 18-Month Follow-Up. ( 29361075 )
2018
43
Mixed-Methods Development of a New Patient-Reported Outcome Instrument for Chronic Low Back Pain: Part 1 - The Patient Assessment for Low Back Pain - Symptoms (PAL-S). ( 29432327 )
2018
44
Pathophysiology and Management of Abdominal Myofascial Pain Syndrome (AMPS): A Three-Year Prospective Audit of a Management Pathway in 120 Patients. ( 29444277 )
2018
45
The Legal Doctrine on the Liability of Physicians in Medical Malpractice Lawsuits Involving Complex Regional Pain Syndrome. ( 29441736 )
2018
46
Complex Regional Pain Syndrome, Current Concepts and Treatment Options. ( 29404787 )
2018
47
The Effect of Ketamine Infusion in the Treatment of Complex Regional Pain Syndrome: a Systemic Review and Meta-analysis. ( 29404715 )
2018
48
Preconditioning with hydrogen sulfide prevents bone cancer pain in rats through a proliferator-activated receptor gamma/p38/Jun N-terminal kinase pathway. ( 29096563 )
2018
49
Chest pain as a manifestation of hypokalemia in a pediatric patient. ( 29126579 )
2018
50
Persistent Fever and Abdominal Pain in a Young Woman With Budd-Chiari Syndrome. ( 29352960 )
2018

Variations for Episodic Pain Syndrome, Familial, 1

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

71
# Symbol AA change Variation ID SNP ID
1 TRPA1 p.Asn855Ser VAR_069737 rs398123010

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPA1 NM_007332.2(TRPA1): c.2564A> G (p.Asn855Ser) single nucleotide variant Pathogenic rs398123010 GRCh37 Chromosome 8, 72946604: 72946604

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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