PEPD
MCID: PRX015
MIFTS: 50

Paroxysmal Extreme Pain Disorder (PEPD)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 paine syndrome and erythromelalgia, 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, testes and bone, and related phenotypes are seizures and constipation

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).

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.

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 46)
# Related Disease Score Top Affiliating Genes
1 paine syndrome 30.2 TRPV1 SCN9A SCN11A SCN10A
2 erythromelalgia 30.0 SCN9A SCN4B SCN10A
3 prolidase deficiency 12.1
4 bacterial vaginosis 11.3
5 legg-calve-perthes disease 11.2
6 brittle bone disorder 11.2
7 hypermobility syndrome 11.2
8 osteogenesis imperfecta, type i 11.1
9 raynaud disease 11.1
10 griscelli syndrome, type 1 11.1
11 cystathioninuria 11.1
12 sexual sadism 11.1
13 cutaneous solitary mastocytoma 11.1
14 rheumatoid arthritis 10.2
15 arthritis 10.2
16 generalized epilepsy with febrile seizures plus 10.1 SCN9A SCN1A-AS1
17 generalized epilepsy with febrile seizures plus, type 7 10.1 SCN9A SCN1A-AS1
18 trigeminal nerve disease 10.0 TRPV1 SCN9A
19 proline-negative auxotroph of hamster, complementation of 10.0
20 hematopoietic stem cell transplantation 10.0
21 pediatric ependymoma 10.0
22 ependymoma 10.0
23 hyper ige syndrome 10.0
24 burning mouth syndrome 10.0 TRPV1 SCN9A
25 spondylocarpotarsal synostosis syndrome 10.0
26 human immunodeficiency virus type 1 10.0
27 osteoarthritis 10.0
28 glioma 10.0
29 mononeuritis of lower limb 10.0 TRPV1 SCN10A
30 lesion of sciatic nerve 10.0 TRPV1 SCN10A
31 somatoform disorder 10.0 TRPV1 SCN9A
32 sciatic neuropathy 10.0 TRPV1 SCN10A
33 diabetic neuropathy 10.0 TRPV1 SCN9A
34 neuroma 9.9 TRPV1 SCN10A
35 headache 9.9
36 stomach disease 9.9 TRPV1 SCN10A
37 trigeminal neuralgia 9.9 TRPV1 SCN9A SCN10A
38 dental pulp disease 9.9 TRPV1 SCN11A
39 causalgia 9.9 SCN11A SCN10A
40 peripheral nervous system disease 9.8 TRPV1 SCN9A
41 long qt syndrome 1 9.8 SCN4B SCN10A
42 epilepsy 9.8
43 reflex epilepsy 9.8
44 sodium channelopathy-related small fiber neuropathy 9.8 SCN9A SCN11A SCN10A
45 erythermalgia, primary 9.8 SCN9A SCN11A SCN10A
46 indifference to pain, congenital, autosomal recessive 9.6 SCN9A SCN1A-AS1 SCN11A SCN10A

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 10)
# 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 impaired pain sensation 32 HP:0007328
4 lacrimation abnormality 32 HP:0000632
5 tachycardia 32 HP:0001649
6 ocular pain 32 HP:0200026
7 flushing 32 HP:0031284
8 bradycardia 32 HP:0001662
9 mandibular pain 32 HP:0200025
10 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 behavior/neurological MP:0005386 9.55 SCN10A SCN11A SCN4B SCN9A TRPV1
2 integument MP:0010771 9.26 SCN10A SCN11A SCN9A TRPV1
3 nervous system MP:0003631 9.02 SCN10A SCN11A SCN4B 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, Bone

Publications for Paroxysmal Extreme Pain Disorder

Articles related to Paroxysmal Extreme Pain Disorder:

(show all 21)
# 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
18
Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby. ( 16338680 )
2005
19
Familial rectal pain: is it under-diagnosed? ( 8778439 )
1996
20
Familial rectal pain. ( 4111621 )
1972
21
Familial rectal pain. ( 4112340 )
1972

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 rs113169177
10 SCN9A p.Ala1643Glu VAR_072280 rs879253994

ClinVar genetic disease variations for Paroxysmal Extreme Pain Disorder:

6 (show top 50) (show all 334)
# 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.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
14 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
15 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
16 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508
17 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh37 Chromosome 2, 167129256: 167129256
18 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh38 Chromosome 2, 166272746: 166272746
19 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh37 Chromosome 2, 167055393: 167055393
20 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh38 Chromosome 2, 166198883: 166198883
21 SCN9A NM_002977.3(SCN9A): c.1119T> C (p.Ala373=) single nucleotide variant Benign rs13414203 GRCh37 Chromosome 2, 167145142: 167145142
22 SCN9A NM_002977.3(SCN9A): c.1119T> C (p.Ala373=) single nucleotide variant Benign rs13414203 GRCh38 Chromosome 2, 166288632: 166288632
23 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh37 Chromosome 2, 167145106: 167145106
24 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh38 Chromosome 2, 166288596: 166288596
25 SCN9A NM_002977.3(SCN9A): c.1266A> G (p.Glu422=) single nucleotide variant Benign rs13402180 GRCh37 Chromosome 2, 167144995: 167144995
26 SCN9A NM_002977.3(SCN9A): c.1266A> G (p.Glu422=) single nucleotide variant Benign rs13402180 GRCh38 Chromosome 2, 166288485: 166288485
27 SCN9A NM_002977.3(SCN9A): c.1287T> A (p.Arg429=) single nucleotide variant Benign rs6747673 GRCh37 Chromosome 2, 167144974: 167144974
28 SCN9A NM_002977.3(SCN9A): c.1287T> A (p.Arg429=) single nucleotide variant Benign rs6747673 GRCh38 Chromosome 2, 166288464: 166288464
29 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh37 Chromosome 2, 167142979: 167142979
30 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh38 Chromosome 2, 166286469: 166286469
31 SCN9A NM_002977.3(SCN9A): c.174G> A (p.Gln58=) single nucleotide variant Benign rs6432901 GRCh37 Chromosome 2, 167168093: 167168093
32 SCN9A NM_002977.3(SCN9A): c.174G> A (p.Gln58=) single nucleotide variant Benign rs6432901 GRCh38 Chromosome 2, 166311583: 166311583
33 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh37 Chromosome 2, 167129258: 167129258
34 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh38 Chromosome 2, 166272748: 166272748
35 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh37 Chromosome 2, 167108385: 167108385
36 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh38 Chromosome 2, 166251875: 166251875
37 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh37 Chromosome 2, 167094730: 167094730
38 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh38 Chromosome 2, 166238220: 166238220
39 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh37 Chromosome 2, 167094638: 167094638
40 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh38 Chromosome 2, 166238128: 166238128
41 SCN9A NM_002977.3(SCN9A): c.3769-4A> G single nucleotide variant Benign rs75230218 GRCh37 Chromosome 2, 167089976: 167089976
42 SCN9A NM_002977.3(SCN9A): c.3769-4A> G single nucleotide variant Benign rs75230218 GRCh38 Chromosome 2, 166233466: 166233466
43 SCN9A NM_002977.3(SCN9A): c.3769-8T> C single nucleotide variant Benign rs76550960 GRCh37 Chromosome 2, 167089980: 167089980
44 SCN9A NM_002977.3(SCN9A): c.3769-8T> C single nucleotide variant Benign rs76550960 GRCh38 Chromosome 2, 166233470: 166233470
45 SCN9A NM_002977.3(SCN9A): c.444A> G (p.Pro148=) single nucleotide variant Benign rs9646771 GRCh37 Chromosome 2, 167163043: 167163043
46 SCN9A NM_002977.3(SCN9A): c.444A> G (p.Pro148=) single nucleotide variant Benign rs9646771 GRCh38 Chromosome 2, 166306533: 166306533
47 SCN9A NM_002977.3(SCN9A): c.4779G> T (p.Val1593=) single nucleotide variant Benign rs149207258 GRCh37 Chromosome 2, 167056337: 167056337
48 SCN9A NM_002977.3(SCN9A): c.4779G> T (p.Val1593=) single nucleotide variant Benign rs149207258 GRCh38 Chromosome 2, 166199827: 166199827
49 SCN9A NM_002977.3(SCN9A): c.688+13T> C single nucleotide variant Benign rs74449889 GRCh37 Chromosome 2, 167160735: 167160735
50 SCN9A NM_002977.3(SCN9A): c.688+13T> C single nucleotide variant Benign rs74449889 GRCh38 Chromosome 2, 166304225: 166304225

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 axon GO:0030424 9.33 SCN10A SCN11A SCN9A
2 intrinsic component of plasma membrane GO:0031226 8.96 SCN4B TRPV1
3 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 SCN10A SCN9A TRPV1
4 sensory perception of pain GO:0019233 9.58 SCN10A SCN9A TRPV1
5 regulation of ion transmembrane transport GO:0034765 9.56 SCN10A SCN11A SCN4B SCN9A
6 neuronal action potential GO:0019228 9.5 SCN10A SCN11A SCN9A
7 behavioral response to pain GO:0048266 9.46 SCN9A TRPV1
8 sodium ion transport GO:0006814 9.46 SCN10A SCN11A SCN4B SCN9A
9 AV node cell action potential GO:0086016 9.43 SCN10A SCN4B
10 membrane depolarization during action potential GO:0086010 9.13 SCN10A SCN11A 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 9.56 SCN10A SCN11A SCN9A TRPV1
2 voltage-gated ion channel activity GO:0005244 9.46 SCN10A SCN11A SCN4B SCN9A
3 ion channel binding GO:0044325 9.32 SCN10A SCN4B
4 sodium channel activity GO:0005272 9.26 SCN10A SCN11A SCN4B SCN9A
5 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
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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