{"orpha":99976,"name":"Adenocarcinoma of the oesophagus and oesophagogastric junction","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adenocarcinoma of the esophagus and the gastroesophageal junction","Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction"],"definition":"Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC) affecting the glandular cells of the lower esophagus at the junction with the stomach.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99976/","orphanet_url":"https://www.orpha.net/en/disease/detail/99976","names":{"fr":{"name":"Adénocarcinome de l'oesophage et de la jonction oesogastrique","definition":"L'adénocarcinome de l'oesophage (ACO) est un sous-type du carcinome de l'oesophage qui touche les cellules glandulaires du bas de l'oesophage à la jonction avec l'estomac."},"de":{"name":"Adenokarzinom der Speiseröhre und des ösophago-gastralen Übergangs","synonyms":["Adenokarzinom des Ösophagus und des gastroösophagealen Übergangs"],"definition":"Das Ösophagus-Adenokarzinom (EAC) ist ein Subtyp des Speiseröhrenkrebses (EC; siehe dort) und entsteht in den Drüsenzellen der unteren Speiseröhre am Mageneingang."},"es":{"name":"Adenocarcinoma de esófago y de la unión esofagogástrica","synonyms":["Adenocarcinoma esofágico y adenocarcinoma de la unión esofagogástrica"],"definition":"El adenocarcinoma de esófago (ACE) es un subtipo de carcinoma de esófago (CE) que afecta a las células glandulares del esófago inferior en la unión con el estómago."},"it":{"name":"Adenocarcinoma dell'esofago e della giunzione esofago-gastrica","synonyms":["Adenocarcinoma dell'esofago e della giunzione gastroesofagea","Adenocarcinoma esofageo e adenocarcinoma della giunzione esofago-gastrica"],"definition":"L'adenocarcinoma esofageo (EAC) è un sottotipo del carcinoma dell'esofago (EC), che interessa le cellule ghiandolari del basso esofago nel punto di giunzione con lo stomaco."},"nl":{"name":"Adenocarcinoom van oesofagus en oesofagogastrische overgang","synonyms":["Oesofageaal adenocarcinoom en adenocarcinoom van oesofagogastrische overgang","Adenocarcinoom van slokdarm en gastro-oesofageale overgang"],"definition":"Oesofageaal adenocarcinoom (EAC) is een subtype van oesofageaal carcinoom (EC; zie deze term) die de kliercellen onderaan de oesofagus treft, aan de aansluiting met de maag."},"pt":{"name":"Adenocarcinoma do esófago","synonyms":["Adenocarcinoma esofágico"]},"pl":{"name":"Gruczolakorak przełyku","synonyms":["Gruczolakorak przełyku i połączenia przełykowo-żołądkowego"]},"cs":{"name":"Adenokarcinom jícnu","synonyms":["Ezofageální adenokarcinom"]},"uk":{"name":"Аденокарцинома стравоходу","synonyms":["Аденокарцинома стравоходу"],"definition":"Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach."},"zh":{"name":"食道腺癌","synonyms":["食管腺癌"],"definition":"食管腺癌(EAC)是食道癌(EC)的一个亚型，影响下食管与胃交界处的腺体细胞"},"tr":{"name":"Yemek borusu adenokarsinomu","synonyms":["Özofageal adenokarsinom"]}},"xrefs":[{"source":"OMIM","code":"614266","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C15.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.5","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B70.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"829915640"},{"source":"MONDO","code":"0005028","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0279628","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10030137","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":70482,"name":"Carcinoma of esophagus","classifications":[152,202]}],"children":[],"genes":[{"symbol":"ERBB2","name":"erb-b2 receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"27468182[PMID]","hgnc":"3430","ensembl":"ENSG00000141736","omim":"164870","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.264,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"22033323[PMID]_[EXPERT]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.55,"area":"Europe","status":"Validated","source":"22033323[PMID]_[EXPERT]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Worldwide","status":"Validated","source":"25320104[PMID]_WHO World Health Organization (GLOBOCAN 2012)[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.592,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.848,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.178,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.485,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.28,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.305,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.681,"area":"France","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.636,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.471,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.736,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.947,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.235,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.918,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.364,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.526,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.319,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.315,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.829,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.578,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.651,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.612,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.196,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100580","label":"Barrett esophagus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001864","label":"Clinodactyly of the 5th toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011459","label":"Esophageal carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null}]}}