Paroxysmal extreme pain disorder

A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.



Input patient's signs and symptoms


Narrow down the case reports



Total: 7 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 25903274
(4414864)
 Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.
Imai N, Miyake N, Saito Y, Kobayashi E, Ikawa M, Manaka S, Shiina M, Ogata K, Matsumoto N.
J Headache Pain. 2015;16:519.
Headache
SCN9A
c|SUB|G|5218|C p|SUB|V|1740|L
Child, Preschool Cluster Headache DNA Mutational Analysis Females Flushing Headache Homo sapiens Mutation NAV1.7 Voltage-Gated Sodium Channel Pain Rectum
1
(4.0%)		 24817410
 Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder.
Megli A, Perkovi-Benedik M, Trebuak Podkrajek K, Bertok S.
Pediatr Nephrol. 2014;29(9):1643-6.
Sensory neuropathy
c|SUB|G|554|A;RS#:73969684 p|SUB|R|185|H;RS#:73969684 rs73969684
Analgesics, Non-Narcotic Base Sequence Child, Preschool Females Homo sapiens Missense Mutation Molecular Sequence Data NAV1.7 Voltage-Gated Sodium Channel Pain Rectum Urination Urination Disorders
1
(4.0%)		 23129781
(3594382)
 Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ.
J Neurol Neurosurg Psychiatry. 2013;84(4):386-91.
Sensory neuropathy
SCN9A
c|DEL|IVS24-7|GTTT c|SUB|A|IVS8-2|G p|SUB|P|610|T;RS#:41268673 p|SUB|Q|10|K p|SUB|R|523|X rs121908919 rs41268673 rs6746030 rs6754031 rs77944059
Adult Age of Onset Alternative Splicing Biopsy Child Child, Preschool Cohort Studies Congenital Pain Insensitivity Databases, Genetic Electron Microscopy Erythromelalgia Exons Females Gene Frequency Homo sapiens Male Middle Aged Mutation NAV1.7 Voltage-Gated Sodium Channel Nerve Fibers Neurologic Examination Single Nucleotide Polymorphism Skin Young Adult
1
(4.0%)		 21094958
 Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.
Dabby R, Sadeh M, Gilad R, Lampl Y, Cohen S, Inbar S, Leshinsky-Silver E.
J Neurol Sci. 2011;301(1-2):90-2.
Erythromelalgia
PEPD SCN9A
p|SUB|W|1550|R rs202084411 rs6190
Amino Acid Sequence Amino Acid Substitution Conserved Sequence DNA Mutational Analysis Exons Females Heterozygote Homo sapiens Jews Missense Mutation Models, Molecular Molecular Sequence Data Mutant Proteins NAV1.7 Voltage-Gated Sodium Channel Neuralgia Phenotype Point Mutation Sequence Alignment Sequence Homology, Amino Acid Sodium Channel
1
(4.0%)		 21079636
 Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.
Choi JS, Boralevi F, Brissaud O, Sanchez-Martin J, Te Morsche RH, Dib-Hajj SD, Drenth JP, Waxman SG.
Nat Rev Neurol. 2011;7(1):51-5.
Flushing
IGLV2-23 SCN9A
p|SUB|G|1607|R
Homo sapiens Infant Male Mutation NAV1.7 Voltage-Gated Sodium Channel Neuralgia Sodium Channel
1
(4.0%)		 18803825
(2556659)
 Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.
Dib-Hajj SD, Estacion M, Jarecki BW, Tyrrell L, Fischer TZ, Lawden M, Cummins TR, Waxman SG.
Mol Pain. 2008;4:37.
Flushing
SCN9A
p|SUB|M|1627|K
Action Potentials Adult Amino Acid Substitution Animals Females Ganglia, Spinal Homo sapiens Hyperalgesia Male Missense Mutation NAV1.7 Voltage-Gated Sodium Channel Neurons Pain Rats, Sprague-Dawley Rattus Sodium Channel Spinal Cord Injuries
1
(4.0%)		 16338680
 Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby.
Bednarek N, Arbues AS, Motte J, Sabouraud P, Plouin P, Morville P.
Epileptic Disord. 2005;7(4):360-2.
Bradycardia
Anticonvulsants Apnea Bradycardia Bronchospasm Conjunctival Diseases Differential Diagnosis Epilepsy, Generalized Flushing Food Genes, Dominant Homo sapiens Infant, Newborn Male Pain Rectal Diseases Sialorrhea Syncope Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 2

HPO ID Term Frequency
HP:0001250 Seizures Very frequent (99-80%)
HP:0002019 Constipation Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000763 Sensory neuropathy 1
HP:0001662 Bradycardia 1
HP:0002315 Headache 1
HP:0002373 Febrile seizures 1
HP:0025428 Bronchospasm 1
HP:0031284 Flushing 1
HP:0032147 Erythromelalgia 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
SCN10A sodium voltage-gated channel alpha subunit 10 6336
SCN11A sodium voltage-gated channel alpha subunit 11 11280
SCN9A sodium voltage-gated channel alpha subunit 9 6335