{"orpha":100086,"name":"Gallbladder neuroendocrine tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100086/","orphanet_url":"https://www.orpha.net/en/disease/detail/100086","names":{"fr":{"name":"Tumeur neuroendocrine de la vésicule biliaire","definition":"Néoplasme neuroendocrine rare et très agressif caractérisé par la présence d'une ou plusieurs masses nodulaires prenant naissance dans le col, le fond ou le corps de la vésicule biliaire ou par un épaississement diffus de la paroi de la vésicule biliaire. Les patients peuvent être asymptomatiques (diagnostiqués fortuitement après une résection chirurgicale de la vésicule biliaire) ou présenter des douleurs épigastriques, une masse abdominale et/ou des symptômes non spécifiques, tels que nausées, ictère, bouffées vasomotrices, toux, respiration sifflante, ascite et anépithymie. Les syndromes paranéoplasiques, tels que le syndrome de Cushing, l'hypercalcémie, l'acanthosis nigricans, la pemphigoïde bulleuse, la dermatomyosite et le signe de Leser-Trélat, peuvent être associés."},"de":{"name":"Tumor, neuroendokriner, der Gallenblase"},"es":{"name":"Tumor neuroendocrino de la vesícula biliar","definition":"Es una neoplasia neuroendocrina muy agresiva y poco frecuente caracterizada por la presencia de masa(s) nodulares que aparecen en el cuello, fondo o cuerpo de la vesícula biliar o por un engrosamiento difuso de la pared vesicular. Los pacientes pueden estar asintomáticos (diagnosticados incidentalmente después de la resección quirúrgica de la vesícula biliar) o presentar dolor epigástrico, masa abdominal y/o síntomas inespecíficos, tales como náuseas, ictericia, sofocos, tos, sibilancias, ascitis y anepitimia. Esta enfermedad puede estar asociada a síndromes paraneoplásicos, tales como el síndrome de Cushing, la hipercalcemia, la acantosis nigricans, el penfigoide bulloso, la dermatomiositis y el signo de Leser-Trélat."},"it":{"name":"Tumore neuroendocrino della cistifellea","definition":"È una neoplasia neuroendocrina rara e molto aggressiva, caratterizzata dalla presenza di una o più masse nodulari che originano dal collo, dal fondo o dal corpo della cistifellea, oppure dall'ispessimento generalizzato della parete della cistifellea. I pazienti possono essere asintomatici (la diagnosi avviene casualmente a seguito della resezione chirurgica della cistifellea) oppure possono presentare dolore epigastrico, una massa addominale e/o sintomi aspecifici, come la nausea, l'ittero, l'arrossamento, la tosse, l'affanno, le asciti e l'assenza di appetito. Possono associarsi alcune sindromi paraneoplastiche, come la sindrome di Cushing, l'ipercalcemia, l'acanthosis nigricans, il pemfigoide bolloso, la dermatomiosite e il segno di Leser-Trélat."},"nl":{"name":"Neuro-endocriene tumor van galblaas","definition":"Een zeldzaam, zeer agressief, neuro-endocrien neoplasma dat gekarakteriseerd wordt door de aanwezigheid van nodulaire massa(s) ontstaan in hals, fundus of lichaam van de galblaas of door diffuse verdikking van de wand van de galblaas. Patiënten kunnen asymptomatisch zijn (toevallig gediagnosticeerd na chirurgische resectie van de galblaas) of vertonen epigastrische pijn, abdominale massa en/of niet-specifieke symptomen zoals misselijkheid, geelzucht, blozen, hoest, piepende ademhaling, ascites, en anepithymie (gebrek aan lust). Paraneoplastische syndromen, zoals syndroom van Cushing, hypercalciëmie, acanthosis nigricans, bulleus pemfigoïd, dermatomyositis en het teken van Leser-Trélat, kunnen geassocieerd zijn."},"pt":{"name":"Tumor endócrino da vesícula biliar"},"pl":{"name":"Guz neuroendokrynny woreczka żółciowego"},"cs":{"name":"Endokrinní nádor žlučníku"},"uk":{"name":"Нейроендокринна пухлина жовчного міхура","definition":"A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated."},"zh":{"name":"胆囊神经内分泌肿瘤","definition":"胆囊瘤一种罕见的、侵袭性极强的神经内分泌肿瘤，其特征是出现来自胆囊颈部、底部或身体的结节状肿块，或胆囊壁弥漫性增厚。患者可能没有症状(在手术切除胆囊后偶然诊断)，或者可能出现上腹痛、腹部肿块和/或非特异性症状，如恶心、黄疸、潮红、咳嗽、喘息、腹水和上皮萎缩。副肿瘤综合征，如库欣综合征、高钙血症、黑棘皮病、大疱性类天疱疮、皮肌炎和Leser-Tr catlat征可能与此相关。"},"tr":{"name":"Safra kesesi nöroendokrin tümörü"}},"xrefs":[{"source":"ICD-10","code":"C23","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C13.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"793283627"},{"source":"UMLS","code":"C3273115","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100101,"name":"Neuroendocrine tumor with other location","classifications":[193,202]},{"orpha":306633,"name":"Rare tumor of gallbladder and extrahepatic biliary tract","classifications":[183,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-13","source":"26576584[PMID]_20375728[PMID]_26000067[PMID]_25910356[PMID]_25525590[PMID]_25043774[PMID]_24666880[PMID]_24455579[PMID]_23826575[PMID]","terms":[{"hpo":"HP:0100574","label":"Biliary tract neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005230","label":"Biliary tract obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010638","label":"Elevated alkaline phosphatase of hepatic origin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012334","label":"Extrahepatic cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001046","label":"Intermittent jaundice","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:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004375","label":"Neoplasm of the nervous system","frequency":"Very rare (<4-1%)","criteria":null}]}}