FEPS1
MCID: EPS039
MIFTS: 31

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 58 76 74
Familial Episodic Pain Syndrome 1 30 6
Feps1 58 76
Familial Episodic Pain Syndrome with Predominantly Upper Body Involvement 60
Pain 45

Characteristics:

Orphanet epidemiological data:

60
familial episodic pain syndrome with predominantly upper body involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
episodic pain syndrome, familial, 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 615040
MeSH 45 D010146
ICD10 via Orphanet 35 M79.6
Orphanet 60 ORPHA391389
SNOMED-CT via HPO 70 22253000 263681008
UMLS 74 C3808667

Summaries for Episodic Pain Syndrome, Familial, 1

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include bone, heart and kidney, and related phenotype is pain.

OMIM : 58 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 2752)
# Related Disease Score Top Affiliating Genes
1 paine syndrome 12.7
2 paroxysmal extreme pain disorder 12.6
3 pain - chronic 12.6
4 complex regional pain syndrome 12.5
5 insensitivity to pain, congenital, with anhidrosis 12.5
6 indifference to pain, congenital, autosomal recessive 12.5
7 familial episodic pain syndrome 12.4
8 central pain syndrome 12.4
9 persistent idiopathic facial pain 12.4
10 myofascial pain syndrome 12.4
11 patellofemoral pain syndrome 12.4
12 episodic pain syndrome, familial, 2 12.4
13 pain agnosia 12.3
14 loin pain hematuria syndrome 12.3
15 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 12.3
16 painful legs and moving toes syndrome 12.3
17 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 12.2
18 neuropathy, hereditary sensory and autonomic, type v 12.2
19 pain sensitivity quantitative trait locus 1 12.2
20 callosities, hereditary painful 12.2
21 interstitial cystitis 12.1
22 congenital insensitivity to pain with severe intellectual disability 12.1
23 congenital insensitivity to pain with hyperhidrosis 12.0
24 insensitivity to pain with hyperplastic myelinopathy 12.0
25 neuropathy, painful 12.0
26 fibromyalgia 12.0
27 bone pain, periodic 11.9
28 pelger-huet-like anomaly and episodic fever with abdominal pain 11.9
29 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain 11.9
30 chronic pain requiring intraspinal analgesia 11.9
31 reflex sympathetic dystrophy 11.9
32 neuropathy, hereditary sensory and autonomic, type vii 11.9
33 tolosa-hunt syndrome 11.8
34 causalgia 11.8
35 myotonia, potassium-aggravated 11.7
36 gardner-diamond syndrome 11.7
37 eagle syndrome 11.7
38 marsili syndrome 11.7
39 charcot-marie-tooth disease, axonal, type 2v 11.6
40 eosinophilia-myalgia syndrome 11.6
41 corneal neuropathic disease 11.5
42 trigeminal neuralgia 11.5
43 endometriosis 11.5
44 herpes zoster 11.4
45 hemicrania continua 11.4
46 headache 11.4
47 angina pectoris 11.4
48 migraine with or without aura 1 11.4
49 sickle cell disease 11.3
50 postherpetic neuralgia 11.3

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:

33
# Description HPO Frequency HPO Source Accession
1 pain 33 HP:0012531

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TRPA1

Anatomical Context for Episodic Pain Syndrome, Familial, 1

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

42
Bone, Heart, Kidney, Thyroid, Brain, Endothelial, Skin

Publications for Episodic Pain Syndrome, Familial, 1

Articles related to Episodic Pain Syndrome, Familial, 1:

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

Variations for Episodic Pain Syndrome, Familial, 1

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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