{"orpha":100080,"name":"Neuroendocrine tumor of the colon","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Colonic NET","NET of the colon","Neuroendocrine neoplasm of the colon"],"definition":"A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100080/","orphanet_url":"https://www.orpha.net/en/disease/detail/100080","names":{"fr":{"name":"Tumeur neuroendocrine du côlon","synonyms":["Néoplasme neuroendocrine du côlon"],"definition":"Tumeur épithéliale rare du côlon, se développant à partir de cellules entérochromaffines, le plus souvent dans le cæcum ou le côlon ascendant. De manière générale, la tumeur évolue lentement et peut être diagnostiquée de manière fortuite chez un patient asymptomatique. Aux stades plus avancés, on observe des douleurs abdominales, une masse abdominale palpable, des changements dans les habitudes intestinales, des signes d'occlusion intestinale, des saignements gastro-intestinaux, une anorexie, une perte de poids ou, rarement, un syndrome carcinoïde (rougeur du visage, diarrhée, tachycardie, hypo-et hypertension, anomalies cardiaques)."},"de":{"name":"Tumor, neuroendokriner, des Kolons","synonyms":["NET des Kolons","Neuroendokrine Neoplasie des Kolons"]},"es":{"name":"Tumor neuroendocrino de colon","synonyms":["Neoplasia neuroendocrina de colon","TNE de colon"],"definition":"Es un tumor epitelial poco frecuente del intestino grueso, que se origina en las células enterocromafines, más comúnmente localizado en el intestino ciego o el colon ascendente. El tumor suele ser de crecimiento lento y puede diagnosticarse como un hallazgo incidental en un afectado asintomático, mientras que en las últimas etapas se puede presentar con dolor abdominal, masa abdominal palpable, cambios en los hábitos intestinales, signos de obstrucción intestinal, sangrado gastrointestinal, anorexia, pérdida de peso o, excepcionalmente, síndrome carcinoide (enrojecimiento facial, diarrea, taquicardia, hipo- e hipertensión, anomalías cardíacas)."},"it":{"name":"Tumore neuroendocrino del colon","definition":"Il tumore neuroendocrino del colon è una neoplasia epiteliale rara dell'intestino crasso, che origina dalle cellule enterocromaffini, per lo più nel cieco o nel colon ascendente. Di solito cresce lentamente e viene diagnosticato casualmente nei pazienti asintomatici, mentre negli stadi più avanzati i pazienti presentano dolore addominale, una massa addominale palpabile, modificazioni delle abitudini intestinali, segni di ostruzione intestinale, emorragie gastrointestinali, anoressia, perdita di peso oppure, raramente, la sindrome da carcinoide (arrossamento del viso, diarrea, tachicardia, ipo/ipertensione, cardiopatie)."},"nl":{"name":"Neuro-endocriene tumor van colon","synonyms":["NET van colon","Neuro-endocrien neoplasma van colon","Neuro-endocriene tumor van karteldarm"],"definition":"Een zeldzame, epitheliale tumor van de dikke darm die ontstaat uit enterochromaffiene cellen, doorgaans in het caecum (blindedarm) of het stijgende deel van de dikke darm. De tumor groeit meestal traag en kan toevallig gediagnosticeerd worden bij een asymptomatische patiënt, terwijl in de latere stadia patiënten zich kunnen presenteren met abdominale pijn, tastbare abdominale massa, veranderingen in stoelgang, tekenen van darmobstructie, gastro-intestinale bloeding, anorexie, gewichtsverlies of, zelden, carcinoïd syndroom (blozen, diarree, tachycardie, hypo- en hypertensie, hartafwijkingen)."},"pt":{"name":"Tumor endócrino do colon"},"pl":{"name":"Guz neuroendokrynny jelita grubego","synonyms":["NET jelita grubego","Nowotwór neuroendokrynny jelita grubego"],"definition":"*Guz neuroendokrynny jelita grubego jest rzadkim nowotworem nabłonkowym jelita grubego, który rozwija się z komórek enterochromafinowych, najczęściej w jelicie ślepym lub okrężnicy wstępującej. Guz zwykle rośnie powoli i można go wykryć przypadkowo u pacjenta, który nie zgłasza objawów. W późniejszych stadiach choroby niekiedy stwierdza się obecność palpacyjnie wyczuwalnej masy w jamie brzusznej, mogą wystąpić bóle brzucha, , zmiana rytmu wypróżnień, objawy niedrożności jelit, krwawienie z przewodu pokarmowego, jadłowstręt (anoreksja), utrata masy ciała lub rzadko zespół rakowiaka (zaczerwienienie twarzy, biegunka, tachykardia, spadek ciśnienia lub nadciśnienie, nieprawidłowości dotyczące serca)."},"cs":{"name":"Endokrinní nádor tlustého střeva","synonyms":["Colonic NET","NET of the colon","Neuroendocrine neoplasm of the colon"]},"uk":{"name":"Нейроендокринна пухлина товстої кишки","synonyms":["НЕП товстої кишки","НЕП товстої кишки","Нейроендокринне новоутворення товстої кишки"],"definition":"A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities)."},"zh":{"name":"结肠神经内分泌肿瘤","synonyms":["结肠神经内分泌瘤"],"definition":"结肠神经内分泌瘤是一种罕见的大肠上皮性肿瘤，起源于肠嗜铬细胞，最常发生在盲肠或升结肠。肿瘤通常生长缓慢，可被诊断为无症状患者的偶然发现，而在晚期患者可能出现腹痛、可触摸到的腹部肿块、排便习惯改变、肠梗阻迹象、胃肠道出血、厌食、体重减轻，或罕见的类癌综合征(脸红、腹泻、心动过速、低血压、心脏异常)。"},"tr":{"name":"Kolonun nöroendokrin tümörü","synonyms":["Kolonik NET","Kolonun NET'i","Kolonun nöroendokrin neoplazmı"]}},"xrefs":[{"source":"ICD-10","code":"C18.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"698700436"},{"source":"MONDO","code":"0002882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1333097","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":481508,"name":"Gastroenteric neuroendocrine neoplasm","classifications":[193,202]},{"orpha":423991,"name":"Rare epithelial tumor of colon","classifications":[152,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":"20664474[PMID]_24763982[PMID]_24412088[PMID]_16913162[PMID]_22052063[PMID]_1568162[PMID]_15213627[PMID]_24468036[PMID]_27175651[PMID]","terms":[{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030446","label":"Atypical pulmonary carcinoid tumor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030144","label":"Hypoactive bowel sounds","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031566","label":"Abnormal pulmonary valve cusp morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012701","label":"Bowel urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:4000007","label":"Bronchoconstriction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030145","label":"Lack of bowel sounds","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004385","label":"Protracted diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null}]}}