{"orpha":2978,"name":"Chronic intestinal pseudoobstruction syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CIPO","CIPO syndrome","CIPS","CIP syndrome"],"definition":"A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2978/","orphanet_url":"https://www.orpha.net/en/disease/detail/2978","names":{"fr":{"name":"Syndrome de pseudo-obstruction intestinale chronique","synonyms":["Syndrome de POIC"],"definition":"Syndrome clinique gastro-entérologique rare et hétérogène caractérisé par des symptômes récurrents d'obstruction intestinale et de signes radiologiques de dilatation de l'intestin grêle ou du gros intestin en l'absence de toute obstruction mécanique. Des altérations permanentes des structures neurales, musculaires ou mésenchymateuses de la paroi intestinale ou de son contrôle neuronal extrinsèque modifient de manière chronique les activités motrices toniques et propulsives dans un ou plusieurs segments de l'intestin."},"de":{"name":"Pseudoobstruktion, chronische intestinale","synonyms":["CIPO","CIPO-Syndrom","CIPS","Chronisches intestinales Pseudoobstruktionssyndrom"],"definition":"Ein seltenes und heterogenes klinisches gastroenterologisches Syndrom, das durch rezidivierende Symptome einer Darmobstruktion mit radiologischen Merkmalen eines dilatierten Dünn- oder Dickdarms bei Fehlen einer mechanischen Verschlussläsion gekennzeichnet ist. Permanente Veränderungen der neuralen, muskulären oder mesenchymalen Strukturen der Darmwand oder ihrer extrinsischen neuralen Kontrolle beeinträchtigen chronisch die tonischen und propulsiven motorischen Funktionen in einem oder mehreren Darmsegmenten."},"es":{"name":"Síndrome de pseudoobstrucción intestinal crónica","synonyms":["Síndrome CIP","Síndrome CIPO","Síndrome PIC","Síndrome POIC"],"definition":"Es un síndrome clínico gastroenterológico poco frecuente y heterogéneo, caracterizado por síntomas recurrentes de obstrucción intestinal, acompañados de hallazgos radiológicos que muestran dilatación del intestino delgado o grueso, sin la presencia de causa mecánica oclusiva. Este trastorno se asocia con alteraciones permanentes en las estructuras neurales, musculares o mesenquimatosas de la pared intestinal o en el control neural extrínseco, lo que afecta crónicamente las funciones motoras tónicas y propulsivas de uno o más segmentos del intestino."},"it":{"name":"Pseudo-ostruzione intestinale cronica","synonyms":["CIPO"]},"nl":{"name":"Syndroom van chronische intestinale pseudo-obstructie","synonyms":["CIP-syndroom","CIPO","CIPO-syndroom","CIPS"],"definition":"Een zeldzaam en heterogeen gastro-enterologisch klinisch syndroom, gekenmerkt door recidiverende symptomen van darmobstructie met radiologische kenmerken van gedilateerde dunne of dikke darm in afwezigheid van enige mechanische occlusieve laesie. Permanente veranderingen in neurale, musculaire, of mesenchymale structuren van de darmwand of de extrinsieke neurale controle ervan leiden tot chronische verstoring van tonische en propulsieve motorische functies in een of meer darmsegmenten."},"pt":{"name":"Síndrome de pseudo-obstrução intestinal crónica","synonyms":["CIPO","CIPS","Síndrome CIP","Síndrome CIPO"],"definition":"Síndrome clínica gastroenterológica rara e heterogénea caracterizada por sintomas recorrentes de obstrução intestinal com características radiológicas de intestino delgado ou grosso dilatado na ausência de qualquer lesão oclusiva mecânica. Alterações permanentes nas estruturas neurais, musculares ou mesenquimais da parede intestinal ou seu controle neural extrínseco prejudicam cronicamente as funções motoras tónicas e propulsivas num ou mais segmentos do intestino."},"pl":{"name":"Przewlekła rzekoma niedrożność jelit","synonyms":["CIPO"]},"cs":{"name":"Chronická střevní pseudoobstrukce","synonyms":["CIPO"],"definition":"Chronická střevní pseudoobstrukce (chronic intestinal pseudoobstruction – CIPO) je vzácné postižení gastrointestinální motility (pohyblivosti) charakterizované opakovanými epizodami připomínajícími mechanickou obstrukci v trávicím systému při nepřítomnosti jakékoliv orgánové, systémové či metabolické poruchy, a bez jakékoliv skutečné obstrukce zobrazitelné při rentgenovém vyšetření nebo během chirurgického zákroku. CIPO se vyvíjí především u dětí a může být přítomna při narození."},"uk":{"name":"Хронічна псевдообструкція кишечника","synonyms":["CIPO"],"definition":"A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut."},"zh":{"name":"慢性小肠假性梗阻","synonyms":["CIPO"]},"tr":{"name":"Kronik bağırsak psödoobstrüksiyon","synonyms":["CIPO"]}},"xrefs":[{"source":"OMIM","code":"243180","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300048","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601223","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609629","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K59.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1977250518"},{"source":"MONDO","code":"0017574","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238062","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12744","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]}],"children":[{"orpha":104077,"name":"Myopathic intestinal pseudoobstruction","type":"Etiological subtype"},{"orpha":99811,"name":"Neuronal intestinal pseudoobstruction","type":"Etiological subtype"},{"orpha":104078,"name":"Unclassified intestinal pseudoobstruction","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ACTG2","name":"actin gamma 2, smooth muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24591628[PMID]","hgnc":"145","ensembl":"ENSG00000163017","omim":"102545","loci":["2p13.1"],"via":{"orpha":104077,"name":"Myopathic intestinal pseudoobstruction"}},{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17357080[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"],"via":{"orpha":99811,"name":"Neuronal intestinal pseudoobstruction"}}],"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:0002242","label":"Abnormal intestine morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011875","label":"Abnormal platelet morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}