PEPD
MCID: PRX015
MIFTS: 53

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 56 12 52 25 58 73 36 29 13 6 43 71
Familial Rectal Pain 12 52 25 58 73
Pepd 56 12 52 25 73
Pexpd 56 12 52 25
Submandibular, Ocular, and Rectal Pain with Flushing 52 25
Pain, Submandibular, Ocular, and Rectal, with Flushing 56
Submandibular, Ocular and Rectal Pain with Flushing 12
Pain Disorder, Paroxysmal, Extreme 39
Familial Rectal Syndrome 52
Rectal Pain, Familial 56
Pexpd; Pepd 56
Frp 73

Characteristics:

Orphanet epidemiological data:

58
paroxysmal extreme pain disorder
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
paroxysmal extreme pain disorder:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111537
OMIM 56 167400
KEGG 36 H00772
MeSH 43 C563475
UMLS via Orphanet 72 C1833661
Orphanet 58 ORPHA46348
MedGen 41 C1833661
UMLS 71 C1833661

Summaries for Paroxysmal Extreme Pain Disorder

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). As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks. Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.

MalaCards based summary : Paroxysmal Extreme Pain Disorder, also known as familial rectal pain, is related to neuropathy, hereditary sensory and autonomic, type vii 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. The drugs Lacosamide and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are seizures and constipation

Disease Ontology : 12 An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has material basis in heterozygous mutation in SCN9A on chromosome 2q24.3.

NIH Rare Diseases : 52 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 .

OMIM : 56 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)

KEGG : 36 Paroxysmal extreme pain disorder (PEPD) is a autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7. Severe pain in PEPD patients along with flushing are induced by bowel movement or probing of the perianal areas, and are sometimes accompanied by tonic nonepileptic seizures and cardiac deficits. The pain attacks are most severe in the lower part of the body and are often triggered by temperature changes (such as cold winds), eating, and/or emotional upsets (such as crying).

UniProtKB/Swiss-Prot : 73 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 : 74 Paroxysmal extreme pain disorder originally named familial rectal pain syndrome, is a rare disorder... 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 top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type vii 31.2 SCN11A SCN10A
2 paine syndrome 29.3 TRPV1 SCN9A SCN11A SCN10A
3 erythermalgia, primary 29.3 SCN9A SCN11A SCN10A
4 erythromelalgia 28.4 SCN9A SCN4B SCN1A-AS1 SCN11A SCN10A
5 prolidase deficiency 12.3
6 mucocutaneous ulceration, chronic 11.5
7 bacterial vaginosis 11.4
8 legg-calve-perthes disease 11.3
9 brittle bone disorder 11.3
10 hypermobility syndrome 11.3
11 connective tissue disease 11.3
12 osteogenesis imperfecta, type i 11.1
13 fatal familial insomnia 11.1
14 corneal dystrophy, posterior amorphous 11.1
15 female breast nipple and areola cancer 11.1
16 cutaneous solitary mastocytoma 11.1
17 hair whorl 10.4
18 autosomal recessive disease 10.3
19 rheumatoid arthritis 10.3
20 48,xyyy 10.3
21 epilepsy, partial, with pericentral spikes 10.2
22 scn9a-related inherited erythromelalgia 10.2
23 human immunodeficiency virus type 1 10.2
24 osteoarthritis 10.2
25 glioma 10.2
26 glial tumor 10.2
27 febrile seizures 10.1 SCN9A SCN1A-AS1
28 myotonic dystrophy 1 10.1
29 proline-negative auxotroph of hamster, complementation of 10.1
30 bloom syndrome 10.1
31 alacrima, achalasia, and mental retardation syndrome 10.1
32 hyper ige syndrome 10.1
33 bacterial infectious disease 10.1
34 microcephaly 10.1
35 thrombocytopenia 10.1
36 benign ependymoma 10.1
37 cellular ependymoma 10.1
38 pediatric ependymoma 10.1
39 situs inversus 10.1
40 myotonic dystrophy 10.1
41 dextrocardia with situs inversus 10.1
42 febrile seizures, familial, 1 10.1 SCN9A SCN1A-AS1
43 generalized epilepsy with febrile seizures plus, type 7 10.1 SCN9A SCN1A-AS1
44 familial febrile seizures 10.0 SCN9A SCN1A-AS1
45 pain sensitivity quantitative trait locus 1 9.9
46 hyperekplexia 9.9
47 allergic hypersensitivity disease 9.9
48 constipation 9.9
49 sensory peripheral neuropathy 9.9
50 fibromyalgia 9.9

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

Human phenotypes related to Paroxysmal Extreme Pain Disorder:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
3 lacrimation abnormality 31 HP:0000632
4 impaired pain sensation 31 HP:0007328
5 tachycardia 31 HP:0001649
6 ocular pain 31 HP:0200026
7 bradycardia 31 HP:0001662
8 flushing 31 HP:0031284
9 rhinorrhea 31 HP:0031417
10 mandibular pain 31 HP:0200025
11 anal pain 31 HP:0500005

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Paroxysmal Extreme Pain Disorder:


pain

MGI Mouse Phenotypes related to Paroxysmal Extreme Pain Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 SCN10A SCN11A SCN4B SCN9A TRPV1
2 nervous system MP:0003631 9.02 SCN10A SCN11A SCN4B SCN9A TRPV1

Drugs & Therapeutics for Paroxysmal Extreme Pain Disorder

Drugs for Paroxysmal Extreme Pain Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
2 Sodium Channel Blockers Phase 3
3 Anticonvulsants Phase 3
4 Diuretics, Potassium Sparing Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy, Safety and Tolerability of Lacosamide in Patients With Gain-of-function Nav1.7 Mutations Related Small Fiber Neuropathy: a Randomized, Double-blind, Placebo Controlled, Crossover Trial Completed NCT01911975 Phase 3 Lacosamide;Placebo
2 Painful Channelopathies Study Recruiting NCT02696746

Search NIH Clinical Center for Paroxysmal Extreme Pain Disorder

Cochrane evidence based reviews: 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:

40
Skin, Brain, Eye, Spinal Cord, Breast, Adipocyte, Testes

Publications for Paroxysmal Extreme Pain Disorder

Articles related to Paroxysmal Extreme Pain Disorder:

(show top 50) (show all 215)
# Title Authors PMID Year
1
Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder. 61 56 6
24817410 2014
2
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 61 56 6
17145499 2006
3
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). 61 56
17679678 2007
4
What's in a name--familial rectal pain syndrome becomes paroxysmal extreme pain disorder. 61 56
17043302 2006
5
SCN9A Neuropathic Pain Syndromes 61 6
20301342 2006
6
Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy. 6
22826602 2012
7
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 6
21698661 2012
8
Familial rectal pain. 56
4112340 1972
9
Familial rectal pain. 56
4111621 1972
10
Identification of key biomolecules in rheumatoid arthritis through the reconstruction of comprehensive disease-specific biological networks. 61
32013628 2020
11
Functional Screening of Candidate Causal Genes for Insulin Resistance in Human Preadipocytes and Adipocytes. 61
31739742 2020
12
Surgical results and prognostic factors following percutaneous full endoscopic posterior decompression for thoracic myelopathy caused by ossification of the ligamentum flavum. 61
31992790 2020
13
Understanding high ε-poly-L-lysine production by Streptomyces albulus using pH shock strategy in the level of transcriptomics. 61
31595454 2019
14
Enzymatic characteristics of a recombinant protease (rPepD) from Aspergillus niger expressed in Pichia pastoris. 61
31181254 2019
15
Effect of the optimized selective enrichment medium on the expression of the p60 protein used as Listeria monocytogenes antigen in specific sandwich ELISA. 61
30953690 2019
16
East Asian Genome-wide association study derived loci in relation to type 2 diabetes in the Han Chinese population. 61
31145772 2019
17
A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene. 61
31192996 2019
18
Epistasis between ADIPOQ rs1501299 and PON1 rs662 polymorphisms is potentially associated with the development of knee osteoarthritis. 61
30734899 2019
19
Percutaneous full endoscopic posterior decompression of thoracic myelopathy caused by ossification of the ligamentum flavum. 61
30656471 2019
20
A recombinant human protein targeting HER2 overcomes drug resistance in HER2-positive breast cancer. 61
30674653 2019
21
Structural basis for prolidase deficiency disease mechanisms. 61
30066404 2018
22
Loss of Cardio-Protective Effects at the CDH13 Locus Due to Gene-Sleep Interaction: The BCAMS Study. 61
29903569 2018
23
Flushing Disorders Associated with Gastrointestinal Symptoms: Part 2, Systemic Miscellaneous Conditions. 61
29650526 2018
24
Flushing Disorders Associated with Gastrointestinal Symptoms: Part 1, Neuroendocrine Tumors, Mast Cell Disorders and Hyperbasophila. 61
29650525 2018
25
Enhancing inactivation rather than reducing activation of Nav1.7 channels by a clinically effective analgesic CNV1014802. 61
29094728 2018
26
AcfA is an essential regulator for pathogenesis of fish pathogen Vibrio alginolyticus. 61
29292001 2018
27
The Pediatric Ependymoma Protein Database (PEPD). 61
29124086 2017
28
PEPD is a pivotal regulator of p53 tumor suppressor. 61
29233996 2017
29
Genetic risk of prediabetes and diabetes development in chronic myeloid leukemia patients treated with nilotinib. 61
28757432 2017
30
Interaction between genes and macronutrient intake on the risk of developing type 2 diabetes: systematic review and findings from European Prospective Investigation into Cancer (EPIC)-InterAct. 61
28592605 2017
31
Network topology of NaV1.7 mutations in sodium channel-related painful disorders. 61
28235406 2017
32
[Pain and analgesia : Mutations of voltage-gated sodium channels]. 61
27402262 2017
33
Characterisation of Nav1.7 functional expression in rat dorsal root ganglia neurons by using an electrical field stimulation assay. 61
29166836 2017
34
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. 61
28686612 2017
35
Kinetic Analysis of Membrane Potential Dye Response to NaV1.7 Channel Activation Identifies Antagonists with Pharmacological Selectivity against NaV1.5. 61
26861708 2016
36
Sodium channel slow inactivation interferes with open channel block. 61
27174182 2016
37
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. 61
27385964 2016
38
Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder. 61
27525141 2016
39
Genome-wide association study of schizophrenia in Ashkenazi Jews. 61
26198764 2015
40
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. 61
26486037 2015
41
Host Protein Biomarkers Identify Active Tuberculosis in HIV Uninfected and Co-infected Individuals. 61
26501113 2015
42
Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression. 61
26159719 2015
43
Prolidase Deficiency 61
26110198 2015
44
Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin. 61
25957174 2015
45
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations. 61
25995458 2015
46
Inhibition of ERBB2-overexpressing Tumors by Recombinant Human Prolidase and Its Enzymatically Inactive Mutant. 61
26086037 2015
47
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder. 61
25285947 2015
48
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder. 61
25903274 2015
49
What are the treatment options for paroxysmal extreme pain disorder? 61
26059255 2015
50
Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia. 61
26035178 2015

Variations for Paroxysmal Extreme Pain Disorder

ClinVar genetic disease variations for Paroxysmal Extreme Pain Disorder:

6 (show top 50) (show all 181) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN9A NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)SNV Pathogenic 6357 rs121908911 2:167085481-167085481 2:166228971-166228971
2 SCN9A NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe)SNV Pathogenic 6358 rs121908912 2:167085482-167085482 2:166228972-166228972
3 SCN9A NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe)SNV Pathogenic 6359 rs121908913 2:167085479-167085479 2:166228969-166228969
4 SCN9A NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr)SNV Pathogenic 6360 rs121908914 2:167060958-167060958 2:166204448-166204448
5 SCN9A NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile)SNV Pathogenic 6361 rs121908915 2:167060949-167060949 2:166204439-166204439
6 SCN9A NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu)SNV Pathogenic 245903 rs879253994 2:167056221-167056221 2:166199711-166199711
7 SCN9A NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val)SNV Pathogenic 446177 rs1553474394 2:167060956-167060956 2:166204446-166204446
8 SCN9A NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn)SNV Pathogenic 446178 rs121908914 2:167060958-167060958 2:166204448-166204448
9 SCN9A NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro)SNV Likely pathogenic 430091 rs1131691776 2:167056281-167056281 2:166199771-166199771
10 SCN9A NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)SNV Likely pathogenic 6356 rs121908910 2:167129241-167129241 2:166272731-166272731
11 SCN9A NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)SNV Conflicting interpretations of pathogenicity 198153 rs71428908 2:167160752-167160752 2:166304242-166304242
12 SCN9A NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)SNV Conflicting interpretations of pathogenicity 234820 rs79805025 2:167055438-167055438 2:166198928-166198928
13 SCN9A NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)SNV Conflicting interpretations of pathogenicity 195488 rs144941725 2:167094721-167094721 2:166238211-166238211
14 SCN9A NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)SNV Conflicting interpretations of pathogenicity 195592 rs180922748 2:167089942-167089942 2:166233432-166233432
15 SCN9A NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)SNV Conflicting interpretations of pathogenicity 195816 rs188336294 2:167083161-167083161 2:166226651-166226651
16 SCN9A NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)SNV Conflicting interpretations of pathogenicity 157597 rs182650126 2:167136962-167136962 2:166280452-166280452
17 SCN9A NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)SNV Conflicting interpretations of pathogenicity 193859 rs187453572 2:167142893-167142893 2:166286383-166286383
18 SCN9A NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)SNV Conflicting interpretations of pathogenicity 30357 rs200945460 2:167137018-167137018 2:166280508-166280508
19 SCN9A NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)SNV Conflicting interpretations of pathogenicity 94090 rs4369876 2:167129256-167129256 2:166272746-166272746
20 SCN9A NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)SNV Conflicting interpretations of pathogenicity 130260 rs199692186 2:167129258-167129258 2:166272748-166272748
21 SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)SNV Conflicting interpretations of pathogenicity 130265 rs141268327 2:167094638-167094638 2:166238128-166238128
22 SCN9A NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)SNV Conflicting interpretations of pathogenicity 254095 rs41268671 2:167134706-167134706 2:166278196-166278196
23 SCN9A NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)SNV Conflicting interpretations of pathogenicity 291185 rs200682458 2:167142984-167142984 2:166286474-166286474
24 SCN9A NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)SNV Conflicting interpretations of pathogenicity 331963 rs187558439 2:167060878-167060878 2:166204368-166204368
25 SCN9A NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)SNV Conflicting interpretations of pathogenicity 331984 rs200014315 2:167138313-167138313 2:166281803-166281803
26 SCN9A NM_001365536.1(SCN9A):c.213G>A (p.Val71=)SNV Conflicting interpretations of pathogenicity 332000 rs200240989 2:167168054-167168054 2:166311544-166311544
27 SCN9A NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)SNV Conflicting interpretations of pathogenicity 331987 rs200876333 2:167141224-167141224 2:166284714-166284714
28 SCN9A NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)SNV Conflicting interpretations of pathogenicity 331988 rs199748300 2:167141318-167141318 2:166284808-166284808
29 SCN9A NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)SNV Conflicting interpretations of pathogenicity 331992 rs199986805 2:167145053-167145053 2:166288543-166288543
30 SCN9A NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)SNV Conflicting interpretations of pathogenicity 331981 rs200185692 2:167134671-167134671 2:166278161-166278161
31 SCN9A NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)SNV Conflicting interpretations of pathogenicity 415032 rs200415928 2:167144984-167144984 2:166288474-166288474
32 SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insTinsertion Conflicting interpretations of pathogenicity 331962 rs767624579 2:167060861-167060862 2:166204351-166204352
33 SCN9A NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)SNV Conflicting interpretations of pathogenicity 331974 rs188145203 2:167129240-167129240 2:166272730-166272730
34 SCN9A NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)SNV Conflicting interpretations of pathogenicity 331990 rs777699798 2:167142966-167142966 2:166286456-166286456
35 SCN9A NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)SNV Conflicting interpretations of pathogenicity 331991 rs201990547 2:167143101-167143101 2:166286591-166286591
36 SCN9A NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)SNV Uncertain significance 331993 rs746956041 2:167145054-167145054 2:166288544-166288544
37 SCN9A NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr)SNV Uncertain significance 331998 rs755653914 2:167160751-167160751 2:166304241-166304241
38 SCN9A NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr)SNV Uncertain significance 331999 rs747265095 2:167163569-167163569 2:166307059-166307059
39 SCN9A NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)SNV Uncertain significance 331961 rs201875421 2:167055770-167055770 2:166199260-166199260
40 SCN9A NM_001365536.1(SCN9A):c.4434_4436GAA[1] (p.Lys1480del)short repeat Uncertain significance 331964 rs886055050 2:167060934-167060936 2:166204424-166204426
41 SCN9A NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)SNV Uncertain significance 448293 rs750269576 2:167099101-167099101 2:166242591-166242591
42 SCN9A NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His)SNV Uncertain significance 471092 rs200374987 2:167138287-167138287 2:166281777-166281777
43 SCN9A NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys)SNV Uncertain significance 471155 rs371454107 2:167055329-167055329 2:166198819-166198819
44 SCN9A NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met)SNV Uncertain significance 471128 rs1362318488 2:167083107-167083107 2:166226597-166226597
45 SCN9A NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys)SNV Uncertain significance 471146 rs202083986 2:167162345-167162345 2:166305835-166305835
46 SCN9A NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile)SNV Uncertain significance 538464 rs770802841 2:167055201-167055201 2:166198691-166198691
47 SCN9A NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)SNV Uncertain significance 538480 rs201354321 2:167141333-167141333 2:166284823-166284823
48 SCN9A NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=)SNV Uncertain significance 626166 rs1558945594 2:167060891-167060891 2:166204381-166204381
49 SCN9A NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser)SNV Uncertain significance 331995 rs886055055 2:167149754-167149754 2:166293244-166293244
50 SCN9A NM_001365536.1(SCN9A):c.*226A>CSNV Uncertain significance 331953 rs886055048 2:167054956-167054956 2:166198446-166198446

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

73
# 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 rs155347439
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

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 SCN9A SCN4B SCN11A SCN10A
2
Show member pathways
12.95 SCN9A SCN4B SCN11A SCN10A
3
Show member pathways
12.54 SCN9A SCN4B SCN11A SCN10A
4
Show member pathways
12.35 SCN9A SCN4B SCN11A SCN10A
5
Show member pathways
12.15 SCN9A SCN4B SCN11A SCN10A
6 12.11 SCN9A SCN11A SCN10A
7
Show member pathways
11.55 SCN9A SCN4B SCN11A SCN10A
8
Show member pathways
11.13 SCN9A SCN4B SCN11A SCN10A
9 10.4 SCN9A SCN4B SCN11A SCN10A

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 TRPV1 SCN4B
2 voltage-gated sodium channel complex GO:0001518 8.92 SCN9A SCN4B SCN11A SCN10A

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 TRPV1 SCN9A SCN11A SCN10A
2 ion transport GO:0006811 9.77 TRPV1 SCN9A SCN4B SCN11A SCN10A
3 ion transmembrane transport GO:0034220 9.67 TRPV1 SCN9A SCN10A
4 sensory perception of pain GO:0019233 9.58 TRPV1 SCN9A SCN10A
5 regulation of ion transmembrane transport GO:0034765 9.56 SCN9A SCN4B SCN11A SCN10A
6 neuronal action potential GO:0019228 9.5 SCN9A SCN11A SCN10A
7 behavioral response to pain GO:0048266 9.46 TRPV1 SCN9A
8 sodium ion transport GO:0006814 9.46 SCN9A SCN4B SCN11A SCN10A
9 AV node cell action potential GO:0086016 9.43 SCN4B SCN10A
10 membrane depolarization during action potential GO:0086010 9.13 SCN9A SCN11A SCN10A
11 sodium ion transmembrane transport GO:0035725 8.92 SCN9A SCN4B SCN11A SCN10A

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 TRPV1 SCN9A SCN11A SCN10A
2 voltage-gated ion channel activity GO:0005244 9.46 SCN9A SCN4B SCN11A SCN10A
3 ion channel binding GO:0044325 9.32 SCN4B SCN10A
4 sodium channel activity GO:0005272 9.26 SCN9A SCN4B SCN11A SCN10A
5 voltage-gated sodium channel activity GO:0005248 8.92 SCN9A SCN4B SCN11A SCN10A

Sources for Paroxysmal Extreme Pain Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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50 NDF-RT
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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