{"orpha":100075,"name":"Neuroendocrine tumor of stomach","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GNET","Gastric NET","Gastric neuroendocrine tumor","NET of stomach"],"definition":"A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100075/","orphanet_url":"https://www.orpha.net/en/disease/detail/100075","names":{"fr":{"name":"Tumeur neuroendocrine de l'estomac","synonyms":["Tumeur neuroendocrine gastrique"],"definition":"Un sous-type rare de néoplasme neuroendocrinien, qui provient de cellules ressemblant aux cellules entérochromaffines de l'estomac. La présentation clinique, l'évolution de la maladie et le pronostic varient selon le type de maladie et le grade histologique. La plupart des patients sont asymptomatiques. Le diagnostic est généralement réalisé de manière fortuite au cours d'une gastroscopie. Cependant, des manifestations de dyspepsie, anémie, douleur, perte de poids et saignement gastro-intestinal peuvent s'observer. La tumeur peut être associée au syndrome de Zollinger-Ellison et à la néoplasie endocrinienne multiple type 1."},"de":{"name":"Tumor, neuroendokriner, des Magens","synonyms":["GNET","Gastraler NET","Gastraler neuroendokriner Tumor","NET des Magens"],"definition":"Ein seltener Subtyp der neuroendokrinen Neoplasie, der von enterochromaffinen Zellen des Magens ausgeht und eine variable klinische Präsentation und Krankheitsverlauf aufweist. Die Prognose ist abhängig vom Krankheitstyp und histologischem Grad. Die meisten Patienten sind asymptomatisch, wobei die Diagnose in der Regel zufällig bei einer Gastroskopie gestellt wird, jedoch können Symptome wie Dyspepsie, Anämie, Schmerzen, Gewichtsverlust und gastrointestinale Blutungen beobachtet werden. Eine Assoziation mit dem Zollinger-Ellison-Syndrom und der multiplen endokrinen Neoplasie Typ I wurde berichtet."},"es":{"name":"Tumor neuroendocrino de estómago","synonyms":["TNE de estómago","TNE gástrico","TNEG","Tumor neuroendocrino gástrico"],"definition":"Es un subtipo de neoplasia neuroendocrina poco frecuente, que surge en las células similares a las enterocromafines en el estómago, con una presentación clínica, curso de la enfermedad y pronóstico variables, según el tipo de enfermedad y el grado histológico. La mayoría de los afectados son asintomáticos, el diagnóstico suele ocurrir de manera incidental durante una gastroscopia; sin embargo, se pueden observar síntomas de dispepsia, anemia, dolor, pérdida de peso y hemorragia gastrointestinal. Se ha notificado asociación con el síndrome de Zollinger-Ellison y con la neoplasia endocrina múltiple tipo I."},"it":{"name":"Tumore neuroendocrino dello stomaco","definition":"Il tumore neuroendocrino dello stomaco è un sottotipo raro di neoplasia neuroendocrina, che origina dalle cellule simil-enterocromaffini dello stomaco. Il quadro clinico, il decorso della malattia e la prognosi sono variabili e dipendono dal tipo e dal grado di malignità. La maggior parte dei pazienti è asintomatica e la diagnosi viene posta casualmente durante una gastroscopia. I pazienti possono presentare comunque dispepsia, anemia, dolore, perdita di peso ed emorragie gastrointestinali. Può associarsi alla sindrome di Zollinger-Ellison e alla neoplasia endocrina multipla tipo I."},"nl":{"name":"Neuro-endocriene tumor van maag","synonyms":["GNET","NET van maag","Neuro-endocriene maagtumor"],"definition":"Een zeldzaam subtype van neuro-endocrien neoplasma, dat ontstaat uit enterochromaffiene-achtige cellen in maag, met variabel klinisch beeld, ziekteverloop en prognose, afhankelijk van type en histologische graad van de ziekte. De meeste patiënten zijn asymptomatisch en worden meestal toevallig gediagnosticeerd tijdens een gastroscopie, hoewel echter symptomen van dyspepsie, anemie, pijn, gewichtsverlies en gastro-intestinale bloeding kunnen waargenomen worden. Er werd associatie met syndroom van Zollinger-Ellison en multipele endocriene neoplasie type I gerapporteerd."},"pt":{"name":"Tumor endócrino gástrico"},"pl":{"name":"Guz neuroendokrynny żołądka","synonyms":["GNET"],"definition":"Rzadki podtyp nowotworu neuroendokrynnego, wywodzący się z komórek enterochromafinopodobnych w żołądku, o zmiennym obrazie klinicznym, przebiegu i rokowaniu, w zależności od typu choroby i stopnia złośliwości histologicznej. U większości pacjentów choroba przebiega bezobjawowo, a rozpoznanie jest zwykle ustalane przypadkowo podczas gastroskopii, jednak może wystąpić niestrawność, niedokrwistość, ból, chudnięcie oraz krwawienie z przewodu pokarmowego. Zgłaszano związek z zespołem Zollingera-Ellisona i zespołem gruczolakowatości wewnątrzwydzielniczej typu I."},"cs":{"name":"Žaludeční endokrinní nádor","synonyms":["GNET","Gastric NET","Gastric neuroendocrine tumor","NET of stomach"]},"uk":{"name":"Нейроендокринна пухлина шлунка","synonyms":["Gastric NET","Нейроендокринна пухлина шлунка","GNET","НЕП шлунку"],"definition":"A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported."},"zh":{"name":"胃神经内分泌肿瘤","synonyms":["胃神经内分泌瘤"],"definition":"胃神经内分泌肿瘤是一种罕见的神经内分泌肿瘤亚型，起源于胃内的肠嗜铬细胞样细胞，其临床表现、病程和预后随疾病类型和组织学分级的不同而不同。大多数患者没有症状，诊断通常是在胃镜检查中偶然发生的，但也可以观察到消化不良、贫血、疼痛、体重减轻和消化道出血的症状。有关卓-艾综合征和多发性内分泌肿瘤I型的报道。"},"tr":{"name":"Mide nöroendokrin tümörü","synonyms":["GNET","Mide ağı","Mide NET","Gastrik nöroendokrin tümör"]}},"xrefs":[{"source":"ICD-10","code":"C16.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B72.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"166659419"},{"source":"MONDO","code":"0003111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1333783","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":481469,"name":"OBSOLETE: Gastric neuroendocrine tumor type 1","status":"inactive"},{"type":"Referred to","orpha":481475,"name":"OBSOLETE: Gastric neuroendocrine tumor type 2","status":"inactive"},{"type":"Referred to","orpha":481478,"name":"OBSOLETE: Gastric neuroendocrine tumor type 3","status":"inactive"},{"type":"Referred to","orpha":481481,"name":"OBSOLETE: Gastric neuroendocrine tumor type 4","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":481508,"name":"Gastroenteric neuroendocrine neoplasm","classifications":[193,202]},{"orpha":63443,"name":"Rare epithelial tumor of stomach","classifications":[152,202]}],"children":[],"genes":[{"symbol":"ATRX","name":"ATRX chromatin remodeler","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"26026117[PMID]","hgnc":"886","ensembl":"ENSG00000085224","omim":"300032","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Europe","status":"Validated","source":"25480460[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"United States","status":"Validated","source":"25480460[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"United Kingdom","status":"Validated","source":"25480460[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Japan","status":"Validated","source":"25480460[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":"24415864[PMID]_22052063[PMID]_9070484[PMID]_18097129[PMID]_18097129[PMID]_22997445[PMID]_22262004[PMID]_18941127[PMID]_26511392[PMID]","terms":[{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030446","label":"Atypical pulmonary carcinoid tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001005","label":"Dermatological manifestations of systemic disorders","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002248","label":"Hematemesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","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:0002044","label":"Zollinger-Ellison syndrome","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:0030149","label":"Cardiogenic shock","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002668","label":"Paraganglioma","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}]}}