{"orpha":99977,"name":"Squamous cell carcinoma of the esophagus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ESCC","Esophageal epidermoid carcinoma","Esophageal squamous cell carcinoma"],"definition":"Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99977/","orphanet_url":"https://www.orpha.net/en/disease/detail/99977","names":{"fr":{"name":"Carcinome épidermoïde de l'oesophage","definition":"Le carcinome épidermoïde de l'oesophage (CEO) est un type de carcinome de l'oesophage qui peut toucher les différents segments de l'oesophage, mais est généralement limité à la partie haute ou moyenne."},"de":{"name":"Plattenepithelkarzinom des Ösophagus","synonyms":["ESCC","Karzinom, oesophageales squamöses","Ösophageales Plattenepithelkarzinom"],"definition":"Das Ösophagus-Plattenepithelkarzimon (ESCC) ist ein Typ des Speiseröhrenkrebses (EC; siehe dort), der jeden Teil der Speiseröhre befallen kann, jedoch in der Regel im oberen oder mittlerem Drittel auftritt."},"es":{"name":"Carcinoma de células escamosas de esófago","synonyms":["Carcinoma esofágico de células escamosas","Carcinoma esofágico epidermoide","ESCC"],"definition":"El carcinoma escamoso de esófago (CEE) es un tipo de carcinoma esofágico (CE; consulte este término) que puede afectar a cualquier parte del esófago, pero suele estar localizado en su tercio superior o medio."},"it":{"name":"Carcinoma a cellule squamose dell'esofago","synonyms":["Carcinoma epidermoide esofageo","Carcinoma esofageo a cellule squamose","ESCC"],"definition":"Il carcinoma esofageo a cellule squamose (ESCC) è una forma di carcinoma dell'esofago, che può interessare ogni tratto dell'esofago, anche se di solito si localizza nel terzo medio o superiore."},"nl":{"name":"Plaveiselcelcarcinoom van oesofagus","synonyms":["ESCC","Oesofageaal epidermoïd carcinoom","Oesofageaal plaveiselcelcarcinoom","Plaveiselcelcarcinoom van slokdarm"],"definition":"Plaveiselcelcarcinoom van de oesofagus (ESCC) is een type carcinoom van de oesofagus (EC; zie deze term) dat elk deel van de oesofagus kan treffen, maar meestal gesitueerd is in het bovenste of middelste derde deel."},"pt":{"name":"Carcinoma de células escamosas esofágicas"},"pl":{"name":"Rak płaskonabłonkowy przełyku","synonyms":["ESCC","Rak nabłonkowy przełyku"]},"cs":{"name":"Dlaždicobuněčný karcinom jícnu","synonyms":["ESCC","Epidermoidní karcinom jícnu"]},"uk":{"name":"Плоскоклітинний рак стравоходу","synonyms":["ESCC","Епідермоїдна карцинома стравоходу","Плоскоклітинний рак стравоходу"],"definition":"Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third."},"zh":{"name":"食道鳞状细胞癌","synonyms":["食管鳞状细胞癌"],"definition":"食管鳞状细胞癌(ESCC)是一种食道癌，可影响食管的任何部位，但通常位于上三分之一或中三分之一。"},"tr":{"name":"Yemek borusunun skuamöz hücre karsinomu","synonyms":["ESCC","Özofageal epidermoid karsinom","Özofageal skuamöz hücreli karsinom"]}},"xrefs":[{"source":"OMIM","code":"133239","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C15.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B70.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1417891145"},{"source":"MONDO","code":"0005580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0279626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10061534","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":"DLEC1","name":"DLEC1 cilia and flagella associated protein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10213508[PMID]","hgnc":"2899","ensembl":"ENSG00000008226","omim":"604050","loci":["3p22.2"]},{"symbol":"RNF6","name":"ring finger protein 6","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12154016[PMID]","hgnc":"10069","ensembl":"ENSG00000127870","omim":"604242","loci":["13q12.13"]},{"symbol":"TGFBR2","name":"transforming growth factor beta receptor 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17680270[PMID]","hgnc":"11773","ensembl":"ENSG00000163513","omim":"190182","loci":["3p24.1"]},{"symbol":"WWOX","name":"WW domain containing oxidoreductase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"11956080[PMID]_22213016[PMID]","hgnc":"12799","ensembl":"ENSG00000186153","omim":"605131","loci":["16q23.1-q23.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.357,"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":5.42,"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 / 100 000","value":5.2,"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":3.122,"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":2.325,"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":5.069,"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":4.172,"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":2.215,"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":3.443,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.623,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.896,"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":2.922,"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":1.256,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.706,"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":1.996,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.734,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.866,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.234,"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":3.544,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.026,"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":3.881,"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":0.801,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.79,"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":2.315,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.139,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.186,"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":3.778,"area":"Switzerland","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: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:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","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}]}}