{"orpha":456333,"name":"Hereditary neuroendocrine tumor of small intestine","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary SB-NET","Hereditary SI-NET","Hereditary neuroendocrine tumor of small bowel","Small bowel hereditary neuroendocrine tumor","Small intestine hereditary neuroendocrine tumor"],"definition":"A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-456333/","orphanet_url":"https://www.orpha.net/en/disease/detail/456333","names":{"fr":{"name":"Tumeur neuroendocrine de l'intestin grêle héréditaire","definition":"Syndrome héréditaire de prédisposition aux cancers caractérisé par l'apparition de multiples tumeurs carcinoïdes primaires synchrones de l'intestin grêle. Impossibles à distinguer de ceux des tumeurs carcinoïdes sporadiques, les signes cliniques du syndrome, ne survenant souvent qu'après une longue période asymptomatique, incluent des douleurs abdominales, des bouffées de chaleur et des diarrhées. La plupart des patients présentent des tumeurs de bas grade. La présence de tumeurs carcinoïdes du poumon a également été rapportée."},"de":{"name":"Hereditärer neuroendokriner Tumor des Dünndarms","synonyms":["Familiärer karzinoider Tumor des Dünndarms","Hereditärer NET des Dünndarms"],"definition":"Ein hereditäres Krebsprädisposition-Syndrom, das durch das Auftreten multipler synchroner Primärkarzinoide des Dünndarms gekennzeichnet ist. Die klinische Präsentation ist ansonsten nicht von sporadischen Karzinoiden zu unterscheiden und umfasst Bauchschmerzen, Rötungen und Durchfall, die sich oft erst nach einer langen asymptomatischen Phase manifestieren. Die meisten Patienten weisen niedriggradige Tumore auf. Es wurde auch über das Auftreten pulmonaler Karzinoide berichtet."},"es":{"name":"Tumor neuroendocrino hereditario del intestino delgado","definition":"Es un síndrome de predisposición al cáncer, hereditario y poco frecuente, caracterizado por la aparición de múltiples carcinoides primarios sincrónicos en el intestino delgado. Por lo demás, la presentación clínica es indistinguible de los carcinoides esporádicos e incluye dolor abdominal, rubor y diarrea, que suelen manifestarse después de un período asintomático prolongado. La mayoría de los pacientes se presenta con tumores de bajo grado. También se ha descrito el desarrollo de carcinoides pulmonares."},"it":{"name":"Tumore neuroendocrino ereditario dell'intestino tenue","synonyms":["SB-NET ereditario","SI-NET ereditario","Tumore neuroendocrino ereditario del piccolo intestino","Tumore neuroendocrino ereditario dell'intestino tenue"],"definition":"Si tratta di una malattia ereditaria rara che predispone allo sviluppo dei tumori, caratterizzata da carcinoidi primitivi sincroni multipli dell'intestino tenue. Il quadro clinico, altrimenti indistinguibile da quello dei carcinoidi sporadici, comprende il dolore addominale, le vampate e la diarrea, che spesso si manifestano solo dopo un lungo periodo asintomatico. La maggior parte dei pazienti presenta tumori di basso grado. Sono stati documentati anche carcinoidi polmonari."},"nl":{"name":"Hereditaire neuro-endocriene tumor van dunne darm","synonyms":["Erfelijke neuro-endocriene tumor van dunne darm","Hereditaire SB-NET","Hereditaire SI-NET"],"definition":"Een zeldzaam hereditair kankerpredispositiesyndroom, gekarakteriseerd door voorkomen van multipele synchrone primaire carcinoïden van dunne darm. De klinische presentatie valt niet te onderscheiden van sporadische carcinoïden, en omvat onder meer abdominale pijn, blozen en diarree, en manifesteert zich vaak pas na een lange asymptomatische periode. De meeste patiënten vertonen laaggradige tumoren. Voorkomen van pulmonaal carcinoïd werd ook reeds gerapporteerd."},"pt":{"name":"Tumor neuroendócrino hereditário do intestino delgado","synonyms":["SB-NET hereditário","SI-NET hereditário","Tumor neuroendócrino hereditário do intestino curto"]},"pl":{"name":"Dziedziczny neuroendokrynny guz jelita cienkiego","synonyms":["Hereditary SB-NET","Hereditary SI-NET","Hereditary neuroendocrine tumor of small bowel","Small bowel hereditary neuroendocrine tumor","Small intestine hereditary neuroendocrine tumor"]},"cs":{"name":"Hereditární neuroendokrinní nádor tenkého střeva","synonyms":["Familiární karcinoid tenkého střeva"]},"uk":{"name":"Спадкова нейроендокринна пухлина тонкої кишки","synonyms":["Спадкова нейроендокринна пухлина тонкої кишки","Спадковий SB-NET","Спадковий SI-NET","Спадкова нейроендокринна пухлина тонкої кишки","Спадкова нейроендокринна пухлина тонкої кишки"],"definition":"A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported."},"zh":{"name":"遗传性小肠神经内分泌肿瘤","synonyms":["遗传性小肠神经内分泌肿瘤"]},"tr":{"name":"İnce bağırsağın kalıtsal nöroendokrin tümörü","synonyms":["İnce bağırsağın kalıtsal nöroendokrin tümörü"]}},"xrefs":[{"source":"ICD-10","code":"C17.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B80.21","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679993","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":425003,"name":"Inherited digestive cancer-predisposing syndrome","classifications":[152,156,202]}],"children":[],"genes":[{"symbol":"IPMK","name":"inositol polyphosphate multikinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25865046[PMID]","hgnc":"20739","ensembl":"ENSG00000151151","omim":"609851","loci":["10q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}