{"orpha":100078,"name":"Ileal neuroendocrine tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ileal neuroendocrine neoplasm"],"definition":"Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100078/","orphanet_url":"https://www.orpha.net/en/disease/detail/100078","names":{"fr":{"name":"Tumeur neuroendocrine de l'iléon","synonyms":["Néoplasme neuroendocrine de l'iléon"],"definition":"Un néoplasme épithélial primaire, malin et rare de l'intestin grêle, issu des cellules entérochromaffines de l'iléon (habituellement l'iléon terminal). Le comportement clinique dépend du stade histologique de la tumeur, mais initialement, il se caractérise généralement par des symptômes abdominaux vagues (crampes, ballonnements, diarrhée) de survenue insidieuse. Cependant, il peut parfois se manifester par des signes d'occlusion/perforation intestinale ou par un saignement gastro-intestinal. Le diagnostic est fréquent pendant les stades avancés avec une dissémination régionale ou distale, mais les signes du syndrome carcinoïde (bouffées vasomotrices, sueurs, diarrhée) ne sont habituellement pas apparents jusqu'à la survenue des métastases hépatiques."},"de":{"name":"Tumor, neuroendokriner, des Ileums","synonyms":["Ileale neuroendokrine Neoplasie"]},"es":{"name":"Tumor neuroendocrino ileal","synonyms":["Neoplasia neuroendocrina ileal"],"definition":"El tumor neuroendocrino ileal, es una neoplasia epitelial maligna primaria del intestino delgado poco frecuente que se genera en las células enterocromafines del íleon (generalmente en el íleon terminal). El curso clínico depende del grado histológico, pero se caracteriza inicialmente por síntomas abdominales vagos (calambres, distensión abdominal, diarrea) de inicio insidioso, aunque en ocasiones puede presentar signos de obstrucción / perforación intestinal o hemorragia gastrointestinal. Es común el diagnóstico en estadíos avanzados con diseminación regional o metástasis a distancia pero, por lo general, los signos del síndrome carcinoide (enrojecimiento, sudoración, diarrea) no son evidentes hasta que aparece la metástasis hepática."},"it":{"name":"Tumore neuroendocrino dell'ileo","definition":"Il tumore neuroendocrino dell'ileo è una neoplasia epiteliale primitiva maligna rara dell'intestino tenue, che origina dalle cellule enterocromaffini dell'ileo, di solito nella porzione terminale. Il decorso clinico dipende dal grado istologico, ma l'esordio è per lo più insidioso, caratterizzato da sintomi addominali sfumati (crampi, gonfiore, diarrea). Occasionalmente esordisce con i segni clinici caratteristici dell'ostruzione/perforazione intestinale o con emorragie gastrointestinali. Spesso la diagnosi viene posta negli stadi avanzati della malattia, quando sono presenti infiltrazioni locali o metastasi, ma i sintomi tipici della sindrome da carcinoide (arrossamento, sudorazione, diarrea) in genere si manifestano solo quando sono già presenti metastasi epatiche."},"nl":{"name":"Neuro-endocriene tumor van ileum","synonyms":["Ileale neuro-endocriene tumor","Neuro-endocrien neoplasma van ileum","Neuro-endocriene tumor van kronkeldarm"],"definition":"Neuro-endocriene tumor van het ileum is een zeldzaam, primair, maligne, epitheliaal neoplasma van de dunne darm die ontstaat uit enterochromaffiene cellen in het ileum (kronkeldarm) (meestal in het terminale ileum). Het klinisch gedrag van de tumor hangt af van de histologische graad, maar initieel wordt het doorgaans gekenmerkt door vage abdominale symptomen (krampen, opgeblazen gevoel, diarree) met een sluipende aanvang, hoewel de ziekte zich soms kan presenteren met tekenen van darmobstructie/-perforatie of gastro-intestinale bloeding. Diagnose in gevorderde stadia met regionale of afgelegen verspreiding is gangbaar, maar tekenen van carcinoïdsyndroom (blozen, zweten, diarree) zijn meestal niet duidelijk tot hepatische metastase heeft plaatsgevonden."},"pt":{"name":"Tumor endócrino do íleo"},"pl":{"name":"Guz neuroendokrynny jelita krętego","synonyms":["Nowotwór neuroendokrynny jelita krętego"],"definition":"*Guz neuroendokrynny jelita krętego jest rzadkim, pierwotnym, złośliwym nowotworem nabłonkowym jelita cienkiego, powstającym z komórek enterochromafinowych w jelicie krętym (zwykle w końcowym odcinku). Obraz kliniczny zależy od stopnia zróżnicowania histologicznego. Początkowo generalnie charakteryzuje się niespecyficznymi objawami brzusznymi (skurcze, wzdęcia, biegunka) o podstępnym początku, czasami jednak może dawać objawy niedrożności/perforacji jelit lub krwawienie z przewodu pokarmowego. Rozpoznanie często stawiane jest w zaawansowanych stadiach z miejscowym lub odległym szerzeniem się choroby, natomiast objawy zespołu rakowiaka (zaczerwienienie, pocenie się, biegunka) zwykle nie są obecne, dopóki nie pojawią się przerzuty do wątroby."},"cs":{"name":"Ileální endokrinní nádor","synonyms":["Ileal neuroendocrine neoplasm"]},"uk":{"name":"Нейроендокринна пухлина клубової кишки","synonyms":["Нейроендокринне новоутворення клубової кишки"],"definition":"Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred."},"zh":{"name":"回肠神经内分泌肿瘤","synonyms":["回肠神经内分泌瘤"],"definition":"回肠神经内分泌肿瘤是一种罕见的、原发性的、恶性的小肠上皮性肿瘤，起源于回肠(通常是回肠末端)的嗜铬细胞。临床表现取决于组织学分级，但最初通常以隐匿性起病的模糊腹部症状(抽筋、腹胀、腹泻)为特征，尽管有时可能出现肠梗阻/穿孔或消化道出血的迹象。晚期伴有局部或远处扩散的诊断是常见的，但类癌综合征的体征(潮红、出汗、腹泻)通常在肝转移发生之前不明显。"},"tr":{"name":"İleal nöroendokrin tümör","synonyms":["İleal nöroendokrin neoplazm"]}},"xrefs":[{"source":"ICD-10","code":"C17.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B80.11","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4081841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":423975,"name":"Neuroendocrine tumor of the small intestine","classifications":[152,193,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-27","source":"22052063[PMID]_9070484[PMID]_18097129[PMID]_18097129[PMID]_22997445[PMID]_22262004[PMID]_18941127[PMID]_26511392[PMID]","terms":[{"hpo":"HP:0006722","label":"Small intestine carcinoid","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001005","label":"Dermatological manifestations of systemic disorders","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030142","label":"Abnormal bowel sounds","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025324","label":"Arterial occlusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003148","label":"Elevated serum acid phosphatase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012334","label":"Extrahepatic cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005249","label":"Functional intestinal obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004796","label":"Gastrointestinal obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100819","label":"Intestinal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030149","label":"Cardiogenic shock","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010446","label":"Tricuspid stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002044","label":"Zollinger-Ellison syndrome","frequency":"Very rare (<4-1%)","criteria":null}]}}