MCID: PRX015
MIFTS: 44

Paroxysmal Extreme Pain Disorder

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Paroxysmal Extreme Pain Disorder

MalaCards integrated aliases for Paroxysmal Extreme Pain Disorder:

Name: Paroxysmal Extreme Pain Disorder 57 53 25 59 75 37 29 13 6 73
Familial Rectal Pain 53 25 59 75
Pepd 57 53 25 75
Pexpd 57 53 25
Submandibular, Ocular, and Rectal Pain with Flushing 53 25
Pain, Submandibular, Ocular, and Rectal, with Flushing 57
Pain Disorder, Paroxysmal, Extreme 40
Paroxysmal Extreme Pain Disorder, 57
Familial Rectal Syndrome 53
Rectal Pain, Familial 57
Pexpd; Pepd 57
Frp 75

Characteristics:

Orphanet epidemiological data:

59
paroxysmal extreme pain disorder
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in neonatal period or infancy
presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning
attacks tend to decrease with age
allelic disorder to primary erythermalgia


HPO:

32
paroxysmal extreme pain disorder:
Onset and clinical course neonatal onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 167400
Orphanet 59 ORPHA46348
UMLS via Orphanet 74 C1833661
MedGen 42 C1833661
KEGG 37 H00772
UMLS 73 C1833661

Summaries for Paroxysmal Extreme Pain Disorder

NIH Rare Diseases : 53 Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the location of the pain may change, with attacks affecting the head and face. Triggers of these pain attacks include changes in temperature, emotional distress or eating spicy foods and drinking cold beverages. Paroxysmal extreme pain disorder is caused by mutations  in the SCN9A gene. This condition is inherited in an autosomal dominant pattern. Treatment may include medications used to manage chronic neuropathic pain (anticonvulsants) such as the sodium channel blocker carbamazepine. 

MalaCards based summary : Paroxysmal Extreme Pain Disorder, also known as familial rectal pain, is related to erythromelalgia and paine syndrome, and has symptoms including pain An important gene associated with Paroxysmal Extreme Pain Disorder is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include skin and testes, and related phenotypes are seizures and constipation

OMIM : 57 Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. Onset is usually in the neonatal period or infancy (Fertleman et al., 2006). (167400)

UniProtKB/Swiss-Prot : 75 Paroxysmal extreme pain disorder: Autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing.

Genetics Home Reference : 25 Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea).

Wikipedia : 76 Paroxysmal extreme pain disorder (PEPD), originally named familial rectal pain syndrome, is a rare... more...

Related Diseases for Paroxysmal Extreme Pain Disorder

Diseases related to Paroxysmal Extreme Pain Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 erythromelalgia 29.2 SCN10A SCN4B SCN9A
2 paine syndrome 28.6 SCN10A SCN11A SCN9A TRPV1
3 prolidase deficiency 12.0
4 bacterial vaginosis 11.1
5 legg-calve-perthes disease 11.1
6 brittle bone disorder 11.1
7 hypermobility syndrome 11.1
8 osteogenesis imperfecta, type i 11.0
9 raynaud disease 11.0
10 griscelli syndrome, type 1 11.0
11 osteogenesis imperfecta, type iii 11.0
12 sexual sadism 11.0
13 facial hemiatrophy 11.0
14 cutaneous solitary mastocytoma 11.0
15 generalized epilepsy with febrile seizures plus, type 7 10.2 LOC101929680 SCN9A
16 burning mouth syndrome 10.0 SCN9A TRPV1
17 rheumatoid arthritis 10.0
18 arthritis 10.0
19 mononeuritis of lower limb 10.0 SCN10A TRPV1
20 somatoform disorder 10.0 SCN9A TRPV1
21 neuronitis 10.0
22 lesion of sciatic nerve 10.0 SCN10A TRPV1
23 sciatic neuropathy 9.9 SCN10A TRPV1
24 hematopoietic stem cell transplantation 9.9
25 pediatric ependymoma 9.9
26 ependymoma 9.9
27 hyper ige syndrome 9.9
28 osteoarthritis 9.9
29 glioma 9.9
30 peripheral nervous system disease 9.8 SCN9A TRPV1
31 headache 9.8
32 neuroma 9.8 SCN10A TRPV1
33 diabetic neuropathy 9.7 SCN9A TRPV1
34 generalized epilepsy with febrile seizures plus 9.6 LOC101929680 SCN9A
35 trigeminal neuralgia 9.5 SCN10A SCN9A TRPV1
36 dental pulp disease 9.5 SCN11A TRPV1
37 sodium channelopathy-related small fiber neuropathy 9.2 SCN10A SCN11A SCN9A
38 erythermalgia, primary 9.2 SCN10A SCN11A SCN9A
39 trigeminal nerve disease 9.2 SCN11A SCN9A TRPV1
40 indifference to pain, congenital, autosomal recessive 8.7 LOC101929680 SCN10A SCN11A SCN9A

Graphical network of the top 20 diseases related to Paroxysmal Extreme Pain Disorder:



Diseases related to Paroxysmal Extreme Pain Disorder

Symptoms & Phenotypes for Paroxysmal Extreme Pain Disorder

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
tachycardia
bradycardia
autonomic reflex asystolic syncopal events

Head And Neck Eyes:
lacrimation, episodic
ocular pain, episodic

Neurologic Peripheral Nervous System:
autonomic reflex asystolic syncopal events
burning pain, episodic
nonepileptic tonic attacks (most common in infants and young children)

Genitourinary Bladder:
painful micturition (in some patients)

Head And Neck Face:
mandibular and submandibular pain, episodic, triggered by eating and yawning

Head And Neck Nose:
rhinorrhea, episodic

Abdomen Gastrointestinal:
rectal pain, episodic, triggered by defecation

Skin Nails Hair Skin:
reddish discoloration, episodic, associated with pain
skin flushing, episodic, associated with pain


Clinical features from OMIM:

167400

Human phenotypes related to Paroxysmal Extreme Pain Disorder:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
3 lacrimation abnormality 32 HP:0000632
4 tachycardia 32 HP:0001649
5 bradycardia 32 HP:0001662
6 impaired pain sensation 32 HP:0007328
7 mandibular pain 32 HP:0200025
8 ocular pain 32 HP:0200026
9 anal pain 32 HP:0500005

UMLS symptoms related to Paroxysmal Extreme Pain Disorder:


pain

MGI Mouse Phenotypes related to Paroxysmal Extreme Pain Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 SCN10A SCN11A SCN9A TRPV1

Drugs & Therapeutics for Paroxysmal Extreme Pain Disorder

Search Clinical Trials , NIH Clinical Center for Paroxysmal Extreme Pain Disorder

Genetic Tests for Paroxysmal Extreme Pain Disorder

Genetic tests related to Paroxysmal Extreme Pain Disorder:

# Genetic test Affiliating Genes
1 Paroxysmal Extreme Pain Disorder 29 SCN9A

Anatomical Context for Paroxysmal Extreme Pain Disorder

MalaCards organs/tissues related to Paroxysmal Extreme Pain Disorder:

41
Skin, Testes

Publications for Paroxysmal Extreme Pain Disorder

Articles related to Paroxysmal Extreme Pain Disorder:

(show all 17)
# Title Authors Year
1
Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder. ( 27525141 )
2016
2
What are the treatment options for paroxysmal extreme pain disorder? ( 26059255 )
2015
3
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder. ( 25903274 )
2015
4
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. ( 26486037 )
2015
5
Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder. ( 24817410 )
2014
6
p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder. ( 25285947 )
2014
7
Paroxysmal extreme pain disorder. ( 23599527 )
2013
8
Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents. ( 21115638 )
2011
9
Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons. ( 21079636 )
2011
10
Case reports: anesthesia for a patient with paroxysmal extreme pain disorder. ( 20435947 )
2010
11
Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation. ( 18599537 )
2008
12
Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable. ( 18803825 )
2008
13
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. ( 18945915 )
2008
14
Voltage-gated ion channel Nav1.7 innervation in patients with idiopathic rectal hypersensitivity and paroxysmal extreme pain disorder (familial rectal pain). ( 17928139 )
2007
15
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). ( 17679678 )
2007
16
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. ( 17145499 )
2006
17
What's in a name--familial rectal pain syndrome becomes paroxysmal extreme pain disorder. ( 17043302 )
2006

Variations for Paroxysmal Extreme Pain Disorder

UniProtKB/Swiss-Prot genetic disease variations for Paroxysmal Extreme Pain Disorder:

75
# Symbol AA change Variation ID SNP ID
1 SCN9A p.Arg1007Cys VAR_032015 rs121908910
2 SCN9A p.Val1309Asp VAR_032016 rs121908911
3 SCN9A p.Val1309Phe VAR_032017 rs121908912
4 SCN9A p.Val1310Phe VAR_032018 rs121908913
5 SCN9A p.Ile1472Thr VAR_032020 rs121908914
6 SCN9A p.Phe1473Val VAR_032021
7 SCN9A p.Thr1475Ile VAR_032022 rs121908915
8 SCN9A p.Met1638Lys VAR_032023
9 SCN9A p.Leu1623Pro VAR_072279
10 SCN9A p.Ala1643Glu VAR_072280 rs879253994

ClinVar genetic disease variations for Paroxysmal Extreme Pain Disorder:

6
(show top 50) (show all 294)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.2986C> T (p.Arg996Cys) single nucleotide variant Likely pathogenic rs121908910 GRCh37 Chromosome 2, 167129241: 167129241
2 SCN9A NM_002977.3(SCN9A): c.2986C> T (p.Arg996Cys) single nucleotide variant Likely pathogenic rs121908910 GRCh38 Chromosome 2, 166272731: 166272731
3 SCN9A NM_002977.3(SCN9A): c.3893T> A (p.Val1298Asp) single nucleotide variant Pathogenic rs121908911 GRCh37 Chromosome 2, 167085481: 167085481
4 SCN9A NM_002977.3(SCN9A): c.3893T> A (p.Val1298Asp) single nucleotide variant Pathogenic rs121908911 GRCh38 Chromosome 2, 166228971: 166228971
5 SCN9A NM_002977.3(SCN9A): c.3892G> T (p.Val1298Phe) single nucleotide variant Pathogenic rs121908912 GRCh37 Chromosome 2, 167085482: 167085482
6 SCN9A NM_002977.3(SCN9A): c.3892G> T (p.Val1298Phe) single nucleotide variant Pathogenic rs121908912 GRCh38 Chromosome 2, 166228972: 166228972
7 SCN9A NM_002977.3(SCN9A): c.3895G> T (p.Val1299Phe) single nucleotide variant Pathogenic rs121908913 GRCh37 Chromosome 2, 167085479: 167085479
8 SCN9A NM_002977.3(SCN9A): c.3895G> T (p.Val1299Phe) single nucleotide variant Pathogenic rs121908913 GRCh38 Chromosome 2, 166228969: 166228969
9 SCN9A NM_002977.3(SCN9A): c.4382T> C (p.Ile1461Thr) single nucleotide variant Pathogenic rs121908914 GRCh37 Chromosome 2, 167060958: 167060958
10 SCN9A NM_002977.3(SCN9A): c.4382T> C (p.Ile1461Thr) single nucleotide variant Pathogenic rs121908914 GRCh38 Chromosome 2, 166204448: 166204448
11 SCN9A NM_002977.3(SCN9A): c.4391C> T (p.Thr1464Ile) single nucleotide variant Pathogenic rs121908915 GRCh37 Chromosome 2, 167060949: 167060949
12 SCN9A NM_002977.3(SCN9A): c.4391C> T (p.Thr1464Ile) single nucleotide variant Pathogenic rs121908915 GRCh38 Chromosome 2, 166204439: 166204439
13 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
14 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
15 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
16 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
17 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
18 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
19 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119
20 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh38 Chromosome 2, 166280609: 166280609
21 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh37 Chromosome 2, 167137120: 167137120
22 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh38 Chromosome 2, 166280610: 166280610
23 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
24 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
25 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
26 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
27 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
28 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
29 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh37 Chromosome 2, 167138321: 167138321
30 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh38 Chromosome 2, 166281811: 166281811
31 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
32 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265
33 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh37 Chromosome 2, 167094721: 167094721
34 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh38 Chromosome 2, 166238211: 166238211
35 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
36 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
37 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh37 Chromosome 2, 167083161: 167083161
38 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh38 Chromosome 2, 166226651: 166226651
39 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh37 Chromosome 2, 167055370: 167055370
40 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh38 Chromosome 2, 166198860: 166198860
41 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh37 Chromosome 2, 167160752: 167160752
42 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh38 Chromosome 2, 166304242: 166304242
43 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh37 Chromosome 2, 167055438: 167055438
44 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh38 Chromosome 2, 166198928: 166198928
45 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh37 Chromosome 2, 167134706: 167134706
46 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh38 Chromosome 2, 166278196: 166278196
47 SCN9A NM_002977.3(SCN9A): c.4895C> A (p.Ala1632Glu) single nucleotide variant Pathogenic rs879253994 GRCh37 Chromosome 2, 167056221: 167056221
48 SCN9A NM_002977.3(SCN9A): c.4895C> A (p.Ala1632Glu) single nucleotide variant Pathogenic rs879253994 GRCh38 Chromosome 2, 166199711: 166199711
49 SCN9A NM_002977.3(SCN9A): c.294C> A (p.Phe98Leu) single nucleotide variant Uncertain significance rs199824489 GRCh37 Chromosome 2, 167163549: 167163549
50 SCN9A NM_002977.3(SCN9A): c.294C> A (p.Phe98Leu) single nucleotide variant Uncertain significance rs199824489 GRCh38 Chromosome 2, 166307039: 166307039

Expression for Paroxysmal Extreme Pain Disorder

Search GEO for disease gene expression data for Paroxysmal Extreme Pain Disorder.

Pathways for Paroxysmal Extreme Pain Disorder

Pathways related to Paroxysmal Extreme Pain Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 SCN10A SCN11A SCN4B SCN9A
2
Show member pathways
12.95 SCN10A SCN11A SCN4B SCN9A
3
Show member pathways
12.54 SCN10A SCN11A SCN4B SCN9A
4
Show member pathways
12.35 SCN10A SCN11A SCN4B SCN9A
5
Show member pathways
12.15 SCN10A SCN11A SCN4B SCN9A
6 12.11 SCN10A SCN11A SCN9A
7
Show member pathways
11.55 SCN10A SCN11A SCN4B SCN9A
8
Show member pathways
11.13 SCN10A SCN11A SCN4B SCN9A
9 10.4 SCN10A SCN11A SCN4B SCN9A

GO Terms for Paroxysmal Extreme Pain Disorder

Cellular components related to Paroxysmal Extreme Pain Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.96 SCN4B TRPV1
2 voltage-gated sodium channel complex GO:0001518 8.92 SCN10A SCN11A SCN4B SCN9A

Biological processes related to Paroxysmal Extreme Pain Disorder according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.78 SCN10A SCN11A SCN9A TRPV1
2 ion transport GO:0006811 9.77 SCN10A SCN11A SCN4B SCN9A TRPV1
3 ion transmembrane transport GO:0034220 9.67 SCN11A SCN9A TRPV1
4 sensory perception of pain GO:0019233 9.58 SCN10A SCN9A TRPV1
5 membrane depolarization during action potential GO:0086010 9.5 SCN10A SCN11A SCN9A
6 behavioral response to pain GO:0048266 9.46 SCN9A TRPV1
7 regulation of ion transmembrane transport GO:0034765 9.46 SCN10A SCN11A SCN4B SCN9A
8 AV node cell action potential GO:0086016 9.43 SCN10A SCN4B
9 neuronal action potential GO:0019228 9.43 SCN10A SCN11A SCN9A
10 sodium ion transport GO:0006814 9.26 SCN10A SCN11A SCN4B SCN9A
11 sodium ion transmembrane transport GO:0035725 8.92 SCN10A SCN11A SCN4B SCN9A

Molecular functions related to Paroxysmal Extreme Pain Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.62 SCN10A SCN11A SCN9A TRPV1
2 voltage-gated ion channel activity GO:0005244 9.56 SCN10A SCN11A SCN4B SCN9A
3 cation channel activity GO:0005261 9.46 SCN10A SCN11A SCN9A TRPV1
4 ion channel binding GO:0044325 9.37 SCN10A SCN4B
5 sodium channel activity GO:0005272 9.26 SCN10A SCN11A SCN4B SCN9A
6 voltage-gated sodium channel activity GO:0005248 8.92 SCN10A SCN11A SCN4B SCN9A

Sources for Paroxysmal Extreme Pain Disorder

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
Content
Loading form....