MCID: EPS039
MIFTS: 20

Episodic Pain Syndrome, Familial, 1

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 75 73
Familial Episodic Pain Syndrome 1 29 6
Feps1 57 75
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
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615040
Orphanet 59 ORPHA391389
ICD10 via Orphanet 34 M79.6
MeSH 44 D010146
SNOMED-CT via HPO 69 263681008 22253000
UMLS 73 C3808667

Summaries for Episodic Pain Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 75 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 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). 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:

# 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 insensitivity to pain, congenital, with anhidrosis 12.3
5 chronic pain 12.3
6 back pain 12.3
7 central pain syndrome 12.2
8 persistent idiopathic facial pain 12.2
9 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:

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

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

32
# Description HPO Frequency HPO Source Accession
1 pain 32 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 29 TRPA1

Anatomical Context for Episodic Pain Syndrome, Familial, 1

Publications for Episodic Pain Syndrome, Familial, 1

Variations for Episodic Pain Syndrome, Familial, 1

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

75
# 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
2 TRPA1 NM_007332.2(TRPA1): c.2564A> G (p.Asn855Ser) single nucleotide variant Pathogenic rs398123010 GRCh38 Chromosome 8, 72034369: 72034369

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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