{"orpha":178481,"name":"Intestinal botulism","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Intestinal colonization botulism","Intestinal toxemia botulism","Intestinal toxin-mediated botulism"],"definition":"A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178481/","orphanet_url":"https://www.orpha.net/en/disease/detail/178481","names":{"fr":{"name":"Botulisme intestinal","synonyms":["Botulisme par colonisation intestinale","Botulisme par toxi-infection intestinale","Toxi-infection botulique intestinale"],"definition":"Le botulisme intestinal est une forme rare de botulisme , une maladie acquise rare de la jonction neuromusculaire avec paralysie flasque descendante due à la neurotoxine botulique (BoNT), qui constitue une toxi-infection par colonisation intestinale de <i>Clostridium botulinum</i>. La maladie touche les enfants (botulisme infantile) et plus rarement les adultes (botulisme intestinal de l'adulte;)."},"de":{"name":"Botulismus, intestinaler","synonyms":["Botulismus, intestinaler, toxämischer"],"definition":"Der intestinale Botulismus ist eine seltene Form des Botulismus, einer erworbenen Störung der Muskelendplatte mit absteigender schlaffer Lähmung, verursacht durch Botulinum-Neurotoxine (BoNTs). Ursache ist eine Besiedlung des Darms durch Clostridium botulinum mit Toxinbildung und Toxämie. Die Krankheit tritt nahezu immer bei Kindern auf (Säuglingsbotulismus) und nur sehr selten bei Erwachsenen (Adulter intestinaler Botulismus)."},"es":{"name":"Botulismo intestinal","synonyms":["Botulismo con toxemia intestinal","Botulismo intestinal por toxinas","Botulismo por colonización intestinal"],"definition":"Es una forma rara de botulismo, una enfermedad, poco frecuente, adquirida de la unión neuromuscular con parálisis flácida descendente causada por la neurotoxina botulínica (BoNT), que constituye una toxiinfección por colonización intestinal de <i>Clostridium botulinum</i>. La enfermedad afecta a los niños (botulismo infantil) y muy excepcionalmente a los adultos (botulismo intestinal del adulto)."},"it":{"name":"Botulismo intestinale","synonyms":["Botulismo da colonizzazione intestinale","Botulismo da tossiemia intestinale","Botulismo intestinale tossino-mediato"],"definition":"Il botulismo intestinale è una forma rara di botulismo (si veda questo termine), una malattia acquisita delle giunzioni neuromuscolari associata a paralisi flaccida discendente da neurotossina del botulino (BoNT). È dovuta alla colonizzazione intestinale da parte del Clostridium botulinum, che causa un'infezione tossino-mediata con tossiemia. La malattia interessa i neonati (botulismo infantile; si veda questo termine) e molto raramente gli adulti (botulismo intestinale dell'adulto; si veda questo termine)."},"nl":{"name":"Intestinaal botulisme","synonyms":["Botulisme geassocieerd met intestinale kolonisatie","Intestinaal toxemisch botulisme","Intestinaal toxine-gemedieerd botulisme"],"definition":"Een zeldzame vorm van botulisme, een zeldzame verworven aandoening van neuromusculaire overgang met afdalende slappe verlamming veroorzaakt door botuline-neurotoxinen (BoNT's), en te wijten aan intestinale kolonisatie door <i>Clostridium botulinum</i> die leidt tot toxine-gemedieerde infectie met toxemie. De ziekte treft zuigelingen (infantiel botulisme) en zeer zelden volwassenen (intestinaal botulisme bij volwassenen)."},"pt":{"name":"Toxemia por botulismo intestinal","definition":"O botulismo intestinal é uma forma rara de botulismo (ver este termo), uma doença rara adquirida da junção neuromuscular com paralisia flácida descendente causada por neurotoxinas botulínicas (BoNTs), e é causada pela colonização intestinal por <i> Clostridium botulinum </ i> levando a infecção mediada por toxina com toxemia. A doença afecta crianças (botulismo infantil; ver este termo) e muito raramente os adultos (botulismo intestinal do adulto; ver este termo)."},"pl":{"name":"Botulizm jelitowy","synonyms":["Intestinal colonization botulism","Intestinal toxemia botulism","Intestinal toxin-mediated botulism"]},"cs":{"name":"Střevní botulismus","synonyms":["Střevní kolonizující botulismus","Střevní toxemický botulismus","Střevní botulismus způsobený toxinem"]},"uk":{"name":"Кишковий ботулізм","synonyms":["Кишковий колонізаційний ботулізм","Кишкова токсикоінфекція ботулізм","Ботулізм, спричинений кишковим токсином"],"definition":"A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism)."},"zh":{"name":"肠肉毒中毒","synonyms":["肠毒素介导肉毒中毒"],"definition":"肠肉毒中毒是一种罕见的肉毒中毒，是一种罕见的获得性神经肌肉连接疾病，由于肉毒杆菌的肠道定植引起毒素介导毒血症所致，其主要临床表现为肉毒杆菌神经毒素（BoNTs）引起的下行性弛缓性麻痹，这种疾病多发生于婴儿（婴儿肉毒中毒），很少发生于成人（成人肠肉毒中毒）。"},"tr":{"name":"Bağırsak botulizmi","synonyms":["Bağırsak toksemisi botulizmi","Bağırsak kolonizasyonu botulizmi","Bağırsak toksin aracılı botulizm"]}},"xrefs":[{"source":"ICD-10","code":"A05.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"1A11.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1393712712"},{"source":"MONDO","code":"0015805","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1443901","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":230800,"name":"Toxin-mediated infectious botulism","classifications":[181,189,203]}],"children":[{"orpha":178487,"name":"Adult intestinal botulism","type":"Clinical subtype"},{"orpha":178478,"name":"Infant botulism","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}