{"orpha":464756,"name":"Familial gastric type 1 neuroendocrine tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464756/","orphanet_url":"https://www.orpha.net/en/disease/detail/464756","names":{"fr":{"name":"Tumeur neuroendocrine de l'estomac de type 1, forme familiale","synonyms":["Tumeur neuroendocrine gastrique de type 1, forme familiale"],"definition":"Maladie néoplasique rare caractérisée par le développement de tumeurs neuroendocrines (TNE) de l'estomac de type 1, atypiques et agressives, chez le jeune adulte. Les tumeurs présentent souvent des infiltrats nodulaires, nécessitant une gastrectomie totale. Des cas d'adénocarcinome gastrique synchrone ont également été rapportés. Les patients présentent des concentrations sériques élevées en gastrine et une anémie ferriprive (et non une anémie mégaloblastique, qui est un signe caractéristique des TNE de l'estomac de type 1 sporadiques où la tumeur se développe généralement sur fond de gastrite atrophique auto-immune)."},"de":{"name":"Familiärer neuroendokriner Magentumor Typ 1","synonyms":["Gastrischer neuroendokriner Tumor, familiärer, Typ 1","Typ-1-NET des Magens"],"definition":"Eine seltene Neoplasie, die durch das Auftreten atypischer und aggressiver neuroendokriner Tumoren des Magens vom Typ 1 (NET) im frühen Erwachsenenalter gekennzeichnet ist. Die Tumoren weisen häufig eine nodale Infiltration auf, die eine vollständige Gastrektomie erforderlich macht. Auch ein synchrones Adenokarzinom des Magens wurde beschrieben. Die Patienten weisen erhöhte Serumkonzentrationen von Gastrin und eine Eisenmangelanämie auf (im Gegensatz zur megaloblastären Anämie, die ein typisches Merkmal von Patienten mit sporadischen neuroendokrinen Tumoren des Magens vom Typ 1 ist, bei denen sich der Tumor in der Regel vor dem Hintergrund einer autoimmunen atrophischen Gastritis entwickelt)."},"es":{"name":"Tumor neuroendocrino gástrico familiar tipo 1","definition":"Es una enfermedad neoplásica poco frecuente caracterizada por el desarrollo de tumores neuroendocrinos (TNE) gástricos de tipo 1 atípicos y agresivos en la edad adulta temprana. Los tumores suelen presentar infiltración ganglionar, requiriendo una gastrectomía total. También se ha descrito adenocarcinoma gástrico sincrónico. Los pacientes presentan unos niveles elevados de gastrina sérica y anemia ferropénica (en lugar de anemia megaloblástica, que es un hallazgo típico en pacientes con TNE gástrico tipo 1 esporádico, en los que el tumor suele surgir en el contexto de una gastritis atrófica autoinmune)."},"it":{"name":"Tumore neuroendocrino gastrico familiare tipo 1","definition":"Si tratta di una neoplasia rara, caratterizzata da tumori neuroendocrini (NET) gastrici di tipo 1 atipici e aggressivi, che esordiscono nella prima età adulta. I tumori spesso infiltrano i linfonodi, rendendo necessaria una gastrectomia totale. La malattia può associarsi anche ad un adenocarcinoma gastrico. I pazienti presentano concentrazioni elevate di gastrina nel siero e anemia da deficit di ferro (piuttosto che anemia megaloblastica, che è una caratteristica tipica del NET gastrico sporadico di tipo 1, in cui il tumore di solito si sviluppa nel quadro di una gastrite atrofica autoimmune)."},"nl":{"name":"Familiale neuro-endocriene tumor van maag type 1","synonyms":["Familiale neuro-endocriene maagtumor type 1"],"definition":"Een zeldzame neoplastische aandoening, gekarakteriseerd door optreden van atypische en agressieve type 1 neuro-endocriene tumoren (NET) van maag in de vroege volwassenheid. De tumoren vertonen vaak infiltratie van lymfeklieren, wat volledige gastrectomie vereist. Synchroon adenocarcinoom van maag werd ook reeds gerapporteerd. Patiënten vertonen hoge concentraties van gastrine in serum en anemie door ijzerdeficiëntie (eerder dan megaloblastische anemie, dat een typisch kenmerk is van patiënten met sporadische type 1 NET van maag, waar de tumor vaak ontstaat in de context van auto-immune atrofische gastritis)."},"pt":{"name":"Tumor neuroendócrino gástrico familiar de tipo 1"},"pl":{"name":"Rodzinny guz neuroendokrynowy żołądka typu 1"},"cs":{"name":"Familiární neuroendokrinní tumor žaludku, typ 1"},"uk":{"name":"Сімейна нейроендокринна пухлина шлунка, тип 1","definition":"A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis)."},"zh":{"name":"家族性胃神经内分泌肿瘤1型"},"tr":{"name":"Ailesel mide tip 1 nöroendokrin tümörü"}},"xrefs":[{"source":"ICD-10","code":"C16.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681095","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":63443,"name":"Rare epithelial tumor of stomach","classifications":[152,202]}],"children":[],"genes":[{"symbol":"ATP4A","name":"ATPase H+/K+ transporting subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25678551[PMID]","hgnc":"819","ensembl":"ENSG00000105675","omim":"137216","loci":["19q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25678551[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25678551[PMID]"}],"phenotypes":null}