{"orpha":46348,"name":"Paroxysmal extreme pain disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial rectal pain"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46348/","orphanet_url":"https://www.orpha.net/en/disease/detail/46348","names":{"fr":{"name":"Syndrome de douleur extrême paroxystique","synonyms":["Douleur rectale familiale"],"definition":"Maladie neurologique génétique rare caractérisée par des douleurs épisodiques sévères dans la région périrectale, accompagnées d'une rougeur de la peau, généralement provoquée par le passage de selles. Les douleurs oculaires et sous-maxillaires, associées à des facteurs déclenchants, tels que le froid ou d'autres facteurs irritants, peuvent s'intensifier avec l'âge."},"de":{"name":"Paroxysmale extreme Schmerzstörung","synonyms":["Familiärer rektaler Schmerz"],"definition":"Eine seltene, genetisch bedingte, neurologische Störung, die durch schwere episodische perirektale Schmerzen begleitet von Hautrötungen gekennzeichnet ist, die typischerweise durch Stuhlgang ausgelöst werden. Begleitende Augen- und Kieferschmerzen, die mit Auslösern wie Kälte oder anderen Reizstoffen assoziiert sind, können mit zunehmendem Alter stärker werden."},"es":{"name":"Trastorno del dolor extremo paroxístico","definition":"Es un trastorno neurológico, genético y poco frecuente, caracterizado por un intenso dolor perirrectal episódico acompañado de enrojecimiento de la piel generalmente desencadenado por la defecación. El dolor ocular y submaxilar, asociado a desencadenantes como el frío u otros irritantes, puede exarcerbarse con la edad."},"it":{"name":"Sindrome da dolore parossistico estremo","synonyms":["Dolore rettale familiare"],"definition":"È una malattia neurologica genetica rara, caratterizzata da episodi di forte dolore perirettale, associato all'arrossamento della cute, di solito causato dalla defecazione. Il dolore agli occhi e quello sottomascellare, scatenato dal freddo o da altri fattori irritanti, può aggravarsi con l'età."},"nl":{"name":"Aandoening met paroxysmale extreme pijn","synonyms":["Familiale rectale pijn"],"definition":"Een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door ernstige, episodische, perirectale pijn vergezeld van blozen van de huid, doorgaans uitgelokt door ontlasting. Oculaire en submaxillaire pijn, geassocieerd met uitlokkende stimuli waaronder koude of andere irriterende factoren, kunnen verergeren met de leeftijd."},"pt":{"name":"doença de dor extrema paroxística","synonyms":["Dor retal familiar"]},"pl":{"name":"Zespół napadowego bólu ekstremalnego","synonyms":["Rodzinny ból odbytnicy"]},"cs":{"name":"Paroxysmální extrémní bolest","synonyms":["Familiární rektální bolest"]},"uk":{"name":"Пароксизмальний сильний больовий розлад","synonyms":["Сімейний біль у прямій кишці"],"definition":"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."},"zh":{"name":"阵发性剧痛症","synonyms":["家族性直肠痛"]},"tr":{"name":"Paroksismal aşırı ağrı bozukluğu","synonyms":["Ailesel rektal ağrı"]}},"xrefs":[{"source":"OMIM","code":"167400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"8E43.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"9604457"},{"source":"MONDO","code":"0008179","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833661","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12854","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[{"symbol":"SCN10A","name":"sodium voltage-gated channel alpha subunit 10","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10582","ensembl":"ENSG00000185313","omim":"604427","loci":["3p22.2"]},{"symbol":"SCN11A","name":"sodium voltage-gated channel alpha subunit 11","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10583","ensembl":"ENSG00000168356","omim":"604385","loci":["3p22.2"]},{"symbol":"SCN9A","name":"sodium voltage-gated channel alpha subunit 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"17145499[PMID]","hgnc":"10597","ensembl":"ENSG00000169432","omim":"603415","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8778439[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17145499[PMID]","terms":[{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null}]}}