{"orpha":100081,"name":"Neuroendocrine tumor of the rectum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NET of the rectum","Rectal NET","Rectal neuroendocrine tumor"],"definition":"Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100081/","orphanet_url":"https://www.orpha.net/en/disease/detail/100081","names":{"fr":{"name":"Tumeur neuroendocrine du rectum","synonyms":["NET du rectum"],"definition":"Tumeur épithéliale rare du rectum provenant des cellules entérochromaffines, le plus souvent du moyen rectum. Dans les premiers stades, les tumeurs se développent lentement, sont asymptomatiques et diagnostiquées de manière fortuite. Dans les stades plus avancés, la tumeur peut se manifester par des saignements rectaux, des douleurs abdominales ou rectales, un ténesme, des changements dans les habitudes intestinales ou par une perte de poids. Certains patients présentent des symptômes carcinoïdes, tels que des rougeurs et une augmentation de la motilité intestinale."},"de":{"name":"Tumor, neuroendokriner, des Rektums","synonyms":["NET des Rektums","Neuroendokriner Tumor, rektaler","Rektaler NET"],"definition":"Der neuroendokrine Tumor des Rektums ist ein seltener epithelialer Tumor, der von enterochromaffinen Zellen ausgeht, meist im mittleren Rektum. Die Tumore sind langsam wachsend, in frühen Stadien zumeist asymptomatisch und werden zufällig diagnostiziert. Im späteren Verlauf kann der Tumor mit rektalen Blutungen, abdominalen oder rektalen Schmerzen, Tenesmen, Veränderungen der Stuhlgewohnheiten oder Gewichtsverlust auftreten. In einigen Fällen kann der Tumor mit Karzinoid-Syndromen wie Flush und erhöhter Darmmotilität einhergehen."},"es":{"name":"Tumor neuroendocrino de recto","synonyms":["TNE de recto","TNE rectal","Tumor neuroendocrino rectal"],"definition":"El tumor neuroendocrino del recto, es un tumor epitelial del recto poco frecuente que se origina en las células enterocromafines, más frecuentemente en el recto medio. Los tumores son de crecimiento lento y asintomáticos en etapas tempranas en la mayoría de los casos, siendo diagnosticados de manera incidental. En estadíos más avanzados, el tumor puede presentarse con sangrado rectal, dolor abdominal o rectal, tenesmo, cambios en los hábitos intestinales o pérdida de peso. En algunos casos, puede presentar un sindrome carcinoide con enrojecimiento y aumento de la motilidad intestinal."},"it":{"name":"Tumore neuroendocrino del retto","definition":"Il tumore neuroendocrino del retto è una neoplasia epiteliale rara che origina dalle cellule enterocromaffini, per lo più del retto medio. Il tumore presenta una crescita lenta; nelle prime fasi, la maggior parte dei pazienti è asintomatica e il tumore viene diagnosticato casualmente. Nelle fasi successive, il tumore esordisce con emorragia rettale, dolore addominale o rettale, tenesmo, cambiamenti nelle abitudini intestinali o perdita di peso. Alcuni pazienti presentano sintomi carcinoidi, come l'arrossamento e l'aumento della motilità intestinale."},"nl":{"name":"Neuro-endocriene tumor van rectum","synonyms":["NET van rectum","Neuro-endocriene tumor van endeldarm","Rectale NET","Rectale neuro-endocriene tumor"],"definition":"Neuro-endocriene tumor van het rectum is een zeldzame epitheliale tumor van het rectum die ontstaat uit enterochromaffiene cellen, meestal in het midden rectum. De tumoren groeien traag, en de meerderheid is in de vroege stadia asymptomatisch en wordt toevallig gediagnosticeerd. Later in het ziekteverloop kan de tumor zich presenten met rectale bloeding, abdominale of rectale pijn, tenesmus, veranderingen van de stoelgang, of gewichtsverlies. In sommige gevallen kan het zich voordoen met carcinoïde symptomen als blozen en verhoogde darmmotiliteit."},"pt":{"name":"Tumor endócrino retal"},"pl":{"name":"Nowotwór neuroendokrynny odbytnicy","synonyms":["Guz neuroendokrynny odbytnicy"]},"cs":{"name":"Endokrinní nádor rekta","synonyms":["Rektální endokrinní nádor"]},"uk":{"name":"Нейроендокринна пухлина прямої кишки","synonyms":["НЕП прямої кишки","Ректальна НЕП","Нейроендокринна пухлина прямої кишки"],"definition":"Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility."},"zh":{"name":"直肠神经内分泌肿瘤","synonyms":["直肠神经内分泌瘤"],"definition":"直肠神经内分泌肿瘤是一种罕见的直肠上皮性肿瘤，起源于肠嗜铬细胞，多见于直肠中段。肿瘤生长缓慢，早期多数无症状，可偶然诊断。病程后期，肿瘤可能出现直肠出血、腹痛或直肠疼痛、内翻、排便习惯改变或体重减轻。在某些情况下，它可能会出现潮红和肠道动力增强的类癌症状。"},"tr":{"name":"Rektumun nöroendokrin tümörü","synonyms":["Rektal NET","Rektumun NET'i","Rektal nöroendokrin tümör"]}},"xrefs":[{"source":"ICD-10","code":"C20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B92.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1619951900"},{"source":"MONDO","code":"0003646","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15068","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"3646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5554035","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085767","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":423998,"name":"Rare epithelial tumor of rectum","classifications":[152,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":"20664474[PMID]_24163193[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:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030144","label":"Hypoactive bowel sounds","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012702","label":"Tenesmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031566","label":"Abnormal pulmonary valve cusp morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012701","label":"Bowel urgency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:4000007","label":"Bronchoconstriction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030145","label":"Lack of bowel sounds","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004385","label":"Protracted diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Very rare (<4-1%)","criteria":null}]}}