{"orpha":443236,"name":"Postural orthostatic tachycardia syndrome due to NET deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial orthostatic tachycardia due to norepinephrine transporter deficiency","Orthostatic intolerance due to NET deficiency","POTS due to NET deficiency"],"definition":"A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443236/","orphanet_url":"https://www.orpha.net/en/disease/detail/443236","names":{"fr":{"name":"Syndrome de tachycardie orthostatique posturale par déficit en NET","synonyms":["Intolérance orthostatique par déficit en NET","Tachycardie orthostatique familiale due à un déficit du transporteur de la norépinéphrine"],"definition":"Trouble orthostatique primaire rare d'origine génétique, caractérisé par des vertiges, des palpitations, une fatigue, une vision trouble et une tachycardie après un changement de position (de la position couchée à la position verticale), en l'absence d'hypotension. Une syncope avec troubles cognitifs transitoires et dyspnée peuvent aussi survenir. Le déficit en transporteur de la noradrénaline peut entraîner une capture anormale et des concentrations plasmatiques élevées de noradrénaline."},"de":{"name":"Posturales orthostatisches Tachykardiesyndrom durch NET-Mangel","synonyms":["Familiäre orthostatische Tachykardie durch Noradrenalin-Transporter-Mangel","Orthostatische Intoleranz durch NET-Mangel","POTS durch NET-Mangel"]},"es":{"name":"Síndrome de taquicardia ortostática postural por deficiencia de NET","synonyms":["Intolerancia ortostática por deficiencia de NET","POTS por deficiencia de NET","Taquicardia ortostática familiar por deficiencia del transportador de norepinefrina"],"definition":"Es un trastorno ortostático primario, genético y poco frecuente, caracterizado por mareos, palpitaciones, fatiga, visión borrosa y taquicardia tras un cambio postural de una posición supina a una posición vertical en ausencia de hipotensión. También puede producirse síncope con deterioro cognitivo transitorio y disnea. La deficiencia del transportador de norepinefrina conduce a una absorción anómala con concentraciones plasmáticas elevadas de norepinefrina."},"it":{"name":"Tachicardia ortostatica posturale da deficit di NET","definition":"È una malattia ortostatica primitiva genetica rara, caratterizzata da vertigini, palpitazioni, affaticamento, annebbiamento della vista e tachicardia, scatenati da un cambiamento posturale dalla posizione supina a quella eretta, in assenza di ipotensione. I pazienti possono presentare sincope con deficit cognitivo transitorio e dispnea. Il deficit del trasportatore della norepinefrina ne causa un anomalo assorbimento, con concentrazioni elevate di norepinefrina nel plasma."},"nl":{"name":"Posturale orthostatische tachycardie-syndroom door NET-deficiëntie","synonyms":["Orthostatische intolerantie door NET-deficiëntie","POTS door NET-deficiëntie","Familiale orthostatische tachycardie door norepinefrinetransporterdeficiëntie"],"definition":"Een zeldzame, genetische, primaire orthostatische stoornis die gekarakteriseerd wordt door duizeligheid, hartkloppingen, vermoeidheid, troebel zicht en tachycardie na verandering van houding van een liggende naar een rechtstaande positie, in afwezigheid van hypotensie. Een syncope met transiënte cognitieve beperking en dyspneu kan ook voorkomen. De deficiëntie van de norepinefrinetransporter leidt tot abnormale opname en hoge concentraties in het plasma van norepinefrine."},"pt":{"name":"Síndrome de taquicardia ortostática postural por défice de NET"},"pl":{"name":"Nietolerancja ortostatyczna spowodowana niedoborem NET","synonyms":["Rodzinny częstoskurcz ortostatyczny spowodowany niedoborem transportera norepinefryny","Zespół częstoskurczu posturalnego spowodowanego niedoborem NET"]},"cs":{"name":"Posturální ortostatická tachykardie způsobená deficitem NET","synonyms":["Familiární ortostatická tachykardie způsobená deficitem norepinefrinového transportéru","Posturální tachykardický syndrom způsobený deficitem NET"]},"uk":{"name":"Синдром постуральної ортостатичної тахікардії, зумовлений дефіцитом NET","synonyms":["Сімейна ортостатична тахікардія внаслідок дефіциту транспортера норадреналіну","Ортостатична непереносимість через дефіцит NET","POTS через дефіцит NET"],"definition":"A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine."},"zh":{"name":"NET缺乏所致体位性心动过速综合征","synonyms":["去甲肾上腺素转运蛋白缺乏导致家族性体位性心动过速"],"definition":"一种罕见的遗传性原发性直立性疾病，其特征是在没有低血压的情况下，从仰卧位变为直立位后头晕，心悸，疲劳，视力模糊和心动过速。具有短暂认知障碍和呼吸困难的晕厥也可能发生。去甲肾上腺素转运蛋白的缺乏会导致摄取异常和去甲肾上腺素的血浆浓度高。"},"tr":{"name":"NET eksikliğine bağlı postural ortostatik taşikardi sendromu","synonyms":["NET eksikliğine bağlı POTS","NET eksikliğine bağlı ortostatik intolerans","Norepinefrin taşıyıcı eksikliğine bağlı ailesel ortostatik taşikardi"]}},"xrefs":[{"source":"OMIM","code":"604715","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I95.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11479","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680060","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13591","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":521232,"name":"Genetic primary orthostatic disorder","classifications":[156]},{"orpha":521236,"name":"Primary orthostatic disorder","classifications":[181]}],"children":[],"genes":[{"symbol":"SLC6A2","name":"solute carrier family 6 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10684912[PMID]","hgnc":"11048","ensembl":"ENSG00000103546","omim":"163970","loci":["16q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10684912[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10684912[PMID]"}],"phenotypes":null}