{"orpha":26106,"name":"Hereditary diffuse gastric cancer","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FDGC","Familial diffuse cancer of stomach","Familial diffuse gastric cancer","HDGC","Hereditary diffuse cancer of stomach","Hereditary diffuse gastric adenocarcinoma"],"definition":"Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of <i>CDH1</i>, <i>MAP3K6</i> and <i>CTNNA1</i> genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-26106/","orphanet_url":"https://www.orpha.net/en/disease/detail/26106","names":{"fr":{"name":"Cancer gastrique diffus héréditaire","synonyms":["Adénocarcinome gastrique diffus héréditaire","Cancer de l'estomac diffus familial","Cancer de l'estomac diffus héréditaire","Cancer gastrique diffus familial","HDGC"],"definition":"Tumeur épithéliale rare de l'estomac, caractérisée par le développement d'un cancer gastrique de type diffus (cellules en « bague à chaton ») à un jeune âge, associée à des mutations hétérozygotes germinales des gènes <i>CDH1</i>, <i>MAP3K6</i>, et <i>CTNNA1</i>. Dans les premiers stades, elle se manifeste par des symptômes nuancés et non spécifiques. Dans les stades avancés, elle peut provoquer des nausées et des vomissements, une dysphagie, une perte d'appétit, une masse abdominale ou une perte de poids. Les femmes sont également exposées au risque de cancer lobulaire du sein."},"de":{"name":"Magenkarzinom, diffuses hereditäres","synonyms":["Diffuser Magenkrebs, familiäre Form","FDGC","Familiärer diffuser Krebs des Magens","HDGC","Hereditäres diffuses gastrisches Adenokarzinom"],"definition":"Das hereditäre diffuse Magenkarzinom ist ein seltener Epitheltumor des Magens, der durch die Entwicklung eines diffusen (Siegelringzell-) Magenkarzinoms in jungen Jahren gekennzeichnet ist und mit keimbahnheterozygoten Mutationen der <i>CDH1</i>-, <i>MAP3K6</i>- und <i>CTNNA1</i>-Gene assoziiert ist. In frühen Stadien tritt es mit unspezifischen und vagen Symptomen auf, in fortgeschrittenen Stadien kann es zu Übelkeit und Erbrechen, Dysphagie, Appetitlosigkeit, abdominaler Masse oder Gewichtsverlust kommen. Frauen haben ein erhöhtes Risiko, auch an lobulärem Brustkrebs zu erkranken."},"es":{"name":"Cáncer gástrico difuso hereditario","synonyms":["Adenocarcinoma gástrico difuso hereditario","Cáncer de estómago difuso familiar","Cáncer de estómago difuso hereditario","Cáncer gástrico difuso familiar","FDGC","HDGC"],"definition":"Es un tumor epitelial poco frecuente del estómago caracterizado por el desarrollo de cáncer gástrico difuso (células en anillo de sello) a una edad joven, asociado a mutaciones heterocigotas de la línea germinal en los genes <i>CDH1</i>, <i>MAP3K6</i> y <i>CTNNA1</i>. En las primeras etapas se presenta con síntomas inespecíficos y vagos; en etapas avanzadas puede causar náuseas y vómitos, disfagia, pérdida de apetito, masa abdominal o pérdida de peso. Las mujeres también presentan un mayor riesgo de cáncer de mama lobular."},"it":{"name":"Tumore gastrico diffuso ereditario","synonyms":["Adenocarcinoma gastrico diffuso ereditario","FDGC","HDGC","Tumore diffuso ereditario dello stomaco","Tumore diffuso familiare dello stomaco","Tumore gastrico diffuso familiare"],"definition":"Il tumore gastrico diffuso ereditario è una neoplasia epiteliale rara dello stomaco, caratterizzata dallo sviluppo di un tumore diffuso dello stomaco (cellule ad anello con castone) ad esordio in giovane età, associato a mutazioni eterozigoti germinale dei geni <i>CDH1</i>, <i>MAP3K6</i> e <i>CTNNA1</i>. Nelle prime fasi, esordisce con sintomi sfumati ed aspecifici, mentre nelle fasi avanzate può causare nausea e vomito, disfagia, perdita dell'appetito, la presenza di una massa addominale o la perdita di peso. Le femmine sono anche a rischio di tumore lobulare delle mammella."},"nl":{"name":"Hereditaire diffuse maagkanker","synonyms":["Erfelijke diffuse kanker van maag","FDGC","Familiale diffuse kanker van maag","Familiale diffuse maagkanker","HDGC","Hereditair diffuus adenocarcinoom van maag"],"definition":"Erfelijke diffuse maagkanker is een zeldzame epitheliale tumor van de maag die gekarakteriseerd wordt door de ontwikkeling van diffuse (zegelringcel) maagkanker op jonge leeftijd, geassocieerd met heterozygote kiembaanmutaties in de genen <i>CDH1</i>, <i>MAP3K6</i> en <i>CTNNA1</i>. Tijdens de vroege stadia manifesteert de tumor zich met niet-specifieke en vage symptomen, en in latere stadia kan het misselijkheid en braken, dysfagie, verlies van eetlust, abdominale masse of gewichtsverlies veroorzaken. Vrouwen vertonen ook een verhoogd risico op lobulaire borstkanker."},"pt":{"name":"Cancro gástrico difuso hereditário","synonyms":["Cancro do estômago difuso familiar","Cancro do estômago difuso hereditário","Cancro gástrico difuso familiar","FDGC","HDGC","Adenocarcinoma gástrico difuso hereditário"]},"pl":{"name":"Dziedziczny rozlany rak żołądka","synonyms":["Dziedziczny rozlany gruczolakorak żołądka","FDGC","HDGC","Rodzinny rozlany rak żołądka"]},"cs":{"name":"Hereditární difuzní žaludeční nádor","synonyms":["FDGC","Familiární difuzní nádor žaludku","HDGC","Hereditární difuzní nádor žaludku","Familiární difuzní žaludeční nádor","Hereditární difuzní žaludeční adenokarcinom"]},"uk":{"name":"Спадковий дифузний рак шлунка","synonyms":["Сімейний дифузний рак шлунка","Сімейний дифузний рак шлунка","FDGC","HDGC","Спадковий дифузний рак шлунка","Спадкова дифузна аденокарцинома шлунка"],"definition":"Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of <i>CDH1</i>, <i>MAP3K6</i> and <i>CTNNA1</i> genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well."},"zh":{"name":"遗传性弥漫性胃癌","synonyms":["遗传性弥漫性胃腺癌"]},"tr":{"name":"Kalıtsal yaygın mide kanseri","synonyms":["FDGC","HDGC","Ailesel yaygın mide kanseri","Ailesel yaygın mide kanseri","Kalıtsal yaygın mide kanseri","Kalıtsal yaygın mide adenokarsinomu"]}},"xrefs":[{"source":"OMIM","code":"137215","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C16.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B72.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007648","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10900","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":271835,"name":"Genetic digestive tract tumor","classifications":[156]},{"orpha":165658,"name":"Genetic gastro-esophageal disease","classifications":[156]},{"orpha":423776,"name":"Hereditary gastric cancer","classifications":[152,202]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"CTNNA1","name":"catenin alpha 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"26049741[PMID]_26182300[PMID]_23208944[PMID]","hgnc":"2509","ensembl":"ENSG00000044115","omim":"116805","loci":["5q31.2"]},{"symbol":"MAP3K6","name":"mitogen-activated protein kinase kinase kinase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25340522[PMID]","hgnc":"6858","ensembl":"ENSG00000142733","omim":"604468","loci":["1p36.11"]},{"symbol":"CDH1","name":"cadherin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19168852[PMID]_20301318[PMID]","hgnc":"1748","ensembl":"ENSG00000039068","omim":"192090","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}