{"orpha":99811,"name":"Neuronal intestinal pseudoobstruction","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99811/","orphanet_url":"https://www.orpha.net/en/disease/detail/99811","names":{"fr":{"name":"Pseudo-obstruction intestinale type neuronal","definition":"La pseudo-obstruction intestinale type neuronal est une forme chronique de pseudo-obstruction intestinale causée une anomalie dans la différentiation et la migration lors du développement neuronal entérique et qui se manifeste comme une obstruction intestinale."},"de":{"name":"Pseudoobstruktion, intestinale neuronale","definition":"Die Neuronale intestinale Pseudoobstruktion ist eine Form der chronischen intestinalen Pseudoobstruktion. Ursache ist eine Entwicklungs- oder Migrationsstörung der Neuronen des Darms, die als Obstruktion des Darmes manifest wird."},"es":{"name":"Pseudoobstrucción intestinal neuronal","definition":"La pseudoobstrucción intestinal neuronal es una forma crónica de pseudoobstrucción intestinal causada por un fallo en el desarrollo de las neuronas entéricas para diferenciarse o migrar correctamente y se manifiesta como una obstrucción intestinal."},"it":{"name":"Pseudo-ostruzione intestinale neuronale","definition":"La pseudo-ostruzione intestinale neuronale è una forma di pseudo-ostruzione intestinale cronica, che si manifesta come ostruzione intestinale, causata dal mancato sviluppo dei neuroni enterici, che pertanto non sono in grado di differenziarsi e di migrare nelle sedi corrette."},"nl":{"name":"Neuronale intestinale pseudo-obstructie","definition":"Een vorm van chronische intestinale pseudo-obstructie, veroorzaakt door een ontwikkelingsdefect waardoor darmneuronen niet correct differentiëren of migreren, en met darmobstructie als manifestatie."},"pt":{"name":"Pseudo-obstrução intestinal, neuronal"},"pl":{"name":"Neuronalna rzekoma niedrożność jelit"},"cs":{"name":"Neuronální intestinální pseudoobstrukce"},"uk":{"name":"Нейрональна кишкова псевдообструкція","definition":"Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction."},"zh":{"name":"神经性假性肠梗阻","definition":"神经元性肠梗阻是一种慢性假性肠梗阻，由肠神经元发育分化或迁移障碍所致，表现为肠梗阻。"},"tr":{"name":"Nöronal yalancı bağırsak tıkanıklığı"}},"xrefs":[{"source":"OMIM","code":"243185","qualifier":"E","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":"1631550149"},{"source":"MONDO","code":"8000011","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855733","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3928","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1654,"name":"OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome","status":"inactive"}],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":2978,"name":"Chronic intestinal pseudoobstruction syndrome","classifications":[152,156,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-15","source":"1269170[PMID]","terms":[{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null}]}}