{"orpha":913,"name":"Zollinger-Ellison syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gastrinoma"],"definition":"A rare neuroendocrine neoplasm (NEN) characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrin-secreting NEN (gastrinoma) resulting in increased gastric acid secretion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-913/","orphanet_url":"https://www.orpha.net/en/disease/detail/913","names":{"fr":{"name":"Syndrome de Zollinger-Ellison","synonyms":["Gastrinome"],"definition":"Néoplasme neuroendocrine (NEN) rare caractérisé par une maladie peptique sévère (ulcères/maladie oesophagienne) causé par une hypergastrinémie secondaire à un NEN sécrétant de la gastrine (gastrinome) entraînant une hypersécrétion d'acide gastrique."},"de":{"name":"Zollinger-Ellison-Syndrom","synonyms":["Gastrinom"],"definition":"Eine seltene neuroendokrine Neoplasie (NEN), die durch eine schwere Magenerkrankung (Ulzera/Ösophaguserkrankung) gekennzeichnet ist, die durch eine Hypergastrinämie sekundär zu einem Gastrin-sezernierenden NEN (Gastrinom) verursacht wird, was zu einer erhöhten Magensäuresekretion führt."},"es":{"name":"Síndrome de Zollinger-Ellison","synonyms":["Gastrinoma"],"definition":"Es una neoplasia neuroendocrina (NNE) poco frecuente caracterizada por enfermedad péptica grave (úlceras/enfermedad esofágica) causada por hipergastrinemia secundaria a una NNE secretora de gastrina (gastrinoma) que provoca en un aumento de la secreción de ácido gástrico."},"it":{"name":"Sindrome di Zollinger-Ellison","synonyms":["Gastrinoma"]},"nl":{"name":"Syndroom van Zollinger-Ellison","synonyms":["Gastrinoom"],"definition":"Een zeldzaam neuro-endocrien neoplasma (NEN), gekenmerkt door ernstige peptische ziekte (ulcera/oesofageale ziekte) veroorzaakt door hypergastrinemie secundair aan een gastrine-secreterend NEN (gastrinoom), met verhoogde secretie van maagzuur tot gevolg."},"pt":{"name":"Síndrome Zollinger-Ellison","synonyms":["Gastrinoma"],"definition":"O síndrome de Zollinger-Ellison (ZES) é caracterizado por doença péptica grave (úlceras/doença esofágica) causada por hipergastrinemia secundária a gastrinoma, resultando na secreção aumentada de ácido gástrico."},"pl":{"name":"Zespół Zollingera i Ellisona","synonyms":["Gastrinoma"]},"cs":{"name":"Zollingerův-Ellisonův syndrom","synonyms":["Gastrinom","Zollinger-Ellisonův syndrom"]},"uk":{"name":"Синдром Золлінгера-Еллісона","synonyms":["Гастринома"],"definition":"Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion."},"zh":{"name":"Zollinger-Ellison 综合征","synonyms":["胃泌素瘤"]},"tr":{"name":"Zollinger-Ellison sendromu","synonyms":["Gastrinoma"]}},"xrefs":[{"source":"ICD-10","code":"E16.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5A43.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"375645550"},{"source":"MONDO","code":"0019610","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043515","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7918","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017852","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":100076,"name":"Duodenal neuroendocrine tumor","classifications":[152,193,202,233]},{"orpha":506060,"name":"Functioning neuroendocrine tumor of pancreas","classifications":[152,193,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Denmark","status":"Validated","source":"ISBN:0849359937[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Switzerland","status":"Not yet validated","source":"ISBN:0849359937[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Ireland","status":"Validated","source":"2575263[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.125,"area":"Worldwide","status":"Validated","source":"22261919[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-25","source":"23582916[PMID]_22052063[PMID]_23645327[PMID]_21443889[PMID]_21315717[PMID]_19854317[PMID]_19836486[PMID]_18270260[PMID]_19059523[PMID]","terms":[{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002044","label":"Zollinger-Ellison syndrome","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002588","label":"Duodenal ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008256","label":"Adrenocortical adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012334","label":"Extrahepatic cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030404","label":"Glucagonoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030688","label":"Increased glucagon level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012030","label":"Increased urinary cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008208","label":"Parathyroid hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008291","label":"Pituitary corticotropic cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011760","label":"Pituitary growth hormone cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011761","label":"Pituitary null cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000854","label":"Thyroid adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006744","label":"Adrenocortical carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}