{"orpha":100082,"name":"Neuroendocrine tumor of anal canal","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NET of anal canal"],"definition":"A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100082/","orphanet_url":"https://www.orpha.net/en/disease/detail/100082","names":{"fr":{"name":"Tumeur neuroendocrine du canal anal","synonyms":["NET du canal anal"],"definition":"Une tumeur épithéliale du canal anal issue des cellules entérochromaffines de l'épithélium colorectal situé au-dessus de la ligne pectinée et dans la zone de transition anale. La tumeur pousse lentement et est diagnostiquée au stade très avancé dans la plupart des cas. Elle peut se manifester par des signes liés à sa localisation anatomique (masse rectale, saignement ou douleur rectale, épreintes ou modifications des habitudes intestinales), les manifestations d'un syndrome carcinoïde (bouffées vasomotrices et augmentation de la motilité intestinale) ou par des signes non spécifiques d'une maladie avancée (hépatomégalie, fièvre, perte de poids, anorexie, malaise)."},"de":{"name":"Tumor, neuroendokriner, des Analkanals","synonyms":["NET des Analkanals"],"definition":"Ein epithelialer Tumor des Analkanals, der aus enterochromaffinen Zellen im kolorektalen Epithel oberhalb der Dentatlinie und in der analen Übergangszone entsteht. Der Tumor wächst langsam und wird in der Mehrzahl der Fälle erst in fortgeschrittenen Stadien diagnostiziert. Die Symptome sind von der anatomischen Lage des Tumors abhängig (rektale Masse, rektale Blutungen und Schmerzen, Tenesmus oder Veränderungen der Stuhlgewohnheiten), mit Symptomen des Karzinoid-Syndroms (Flush und erhöhte Darmmotilität) oder mit unspezifischen Symptomen einer fortgeschrittenen Erkrankung (Hepatomegalie, Fieber, Gewichtsverlust, Anorexie, Unwohlsein)."},"es":{"name":"Tumor neuroendocrino del canal anal","synonyms":["TNE del canal anal"],"definition":"Es un tumor epitelial del canal anal que se origina en las células enterocromafines del epitelio colorrectal por encima de la línea dentada y en la zona de transición anal. Los tumores son de crecimiento lento y la mayoría de los casos son diagnosticados en estadíos avanzados. Puede presentar síntomas relacionados con la ubicación anatómica del tumor (masa rectal, sangrado rectal y dolor, tenesmo o cambios en los hábitos intestinales), síntomas del síndrome carcinoide (enrojecimiento y aumento de la motilidad intestinal) o síntomas inespecíficos de enfermedad avanzada (hepatomegalia, fiebre, pérdida de peso, anorexia, malestar)."},"it":{"name":"Tumore neuroendocrino del canale anale","definition":"Il tumore neuroendocrino del canale anale è una neoplasia epiteliale che origina dalle cellule enterocromaffini nell'epitelio colorettale al di sopra della linea pettinata e nella zona di transizione anale. Si tratta di tumori a crescita lenta, che nella maggior parte dei casi vengono diagnosticati negli stadi avanzati. Il tumore può esordire con segni clinici collegati alla sua localizzazione anatomica (massa rettale, dolore ed emorragie rettali, tenesmo o cambiamenti nelle abitudini intestinali), o con i sintomi caratteristici della sindrome da carcinoide (arrossamento e aumento della motilità intestinale), oppure con sintomi aspecifici tipici degli stadi avanzati della malattia (epatomegalia, febbre, perdita di peso, anoressia, malessere)."},"nl":{"name":"Neuro-endocriene tumor van anaal kanaal","synonyms":["NET van anaal kanaal"],"definition":"Een zeldzame epitheliale tumor van anaal kanaal, die ontstaat uit enterochromaffiene cellen in colorectaal epitheel boven linea dentata en in anale transitiezone. De tumoren groeien traag en de meerderheid van de gevallen wordt in verder gevorderde stadia gediagnosticeerd. Het kan zich voordoen met symptomen gerelateerd aan de anatomische locatie van de tumor (rectale massa, rectale bloeding en pijn, tenesmus of veranderingen van stoelgang), symptomen van carcinoïd syndroom (blozen en verhoogde maagmotiliteit) of aspecifieke symptomen van gevorderde ziekte (hepatomegalie, koorts, gewichtsverlies, anorexie, malaise)."},"pt":{"name":"Tumor endócrino anal"},"pl":{"name":"Guz neuroendokrynny kanału odbytu","synonyms":["NET kanału odbytu","Nowotwór neuroendokrynny kanału odbytu"],"definition":"Rzadki guz nabłonkowy kanału odbytu, wywodzący się z komórek enterochromafinowych w nabłonku jelita grubego powyżej linii zębatej i w strefie przejściowej odbytu. Nowotwory rozwijają się powoli, a większość przypadków diagnozuje się w późniejszych stadiach zaawansowania. Może dawać objawy związane z anatomiczną lokalizacją guza (obecność masy tkankowej w odbytnicy, ból i krwawienie z odbytu, uczucie parcia na stolec lub zmiana rytmu wypróżnień), objawy zespołu rakowiaka (epizody nagłego zaczerwienienia i wzmożona motoryka jelit) lub niespecyficzne objawy zaawansowanej choroby (hepatomegalia, gorączka, utrata masy ciała, jadłowstręt, złe samopoczucie)."},"cs":{"name":"Endokrinní nádor análního kanálu","synonyms":["NET of anal canal"]},"uk":{"name":"Нейроендокринна пухлина анального каналу","synonyms":["НЕП анального каналу"],"definition":"A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise)."},"zh":{"name":"肛管神经内分泌肿瘤","synonyms":["肛管NET"],"definition":"肛管神经内分泌肿瘤是一种肛管上皮性肿瘤，起源于齿状线以上和肛门移行区的结直肠型上皮中的肠嗜铬细胞。肿瘤生长缓慢，大多数病例是在晚期被诊断出来的。它可能会出现与肿瘤的解剖位置有关的症状(直肠肿块、直肠出血和疼痛、内翻或排便习惯改变)、类癌综合征的症状(潮红和肠道动力增强)或晚期疾病的非特异性症状(肝肿大、发烧、体重减轻、食欲减退、身体不适)。"},"tr":{"name":"Anal kanalın nöroendokrin tümörü","synonyms":["NET anal kanal"]}},"xrefs":[{"source":"ICD-10","code":"C21.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C00.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1927831331"},{"source":"MONDO","code":"0015069","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3272849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":424010,"name":"Epithelial tumor of anal canal","classifications":[152,202,233]},{"orpha":481508,"name":"Gastroenteric neuroendocrine neoplasm","classifications":[193,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":"18490556[PMID]_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:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","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:0012702","label":"Tenesmus","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":"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:0002249","label":"Melena","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}]}}