{"orpha":2070,"name":"Eosinophilic gastroenteritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EGE","Eosinophilic enteritis","Eosinophilic gastroenterocolitis"],"definition":"A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2070/","orphanet_url":"https://www.orpha.net/en/disease/detail/2070","names":{"fr":{"name":"Gastro-entérite à éosinophiles","synonyms":["Entérite éosinophilique","GEE","Gastro-entérite éosinophilique","Gastro-entéro-colite à éosinophiles"],"definition":"La gastro-entérite éosinophilique est une maladie gastro-intestinale bénigne rare caractérisée par la présence de manifestations gastro-intestinales (GI) anormales et non-spécifiques, associées à une infiltration éosinophilique du tractus GI pouvant affecter plusieurs segments et impliquer plusieurs couches dans la paroi GI.."},"de":{"name":"Gastroenteritis, eosinophile","synonyms":["EGE","Eosinophile Enteritis"],"definition":"Die Eosinophile Gastroenteritis (EGE) ist ein ungewöhnlicher pathologischer Prozess, bei dem abnorme und unspezifische gastro-intestinale Symptome mit eosinophiler Infiltration eines oder mehrerer Bereiche des Verdauungstraktes ohne systemische Beteiligung auftreten. Diese kann mehrere Segmente und Schichten der Magendarmwand betreffen."},"es":{"name":"Gastroenteritis eosinofílica","synonyms":["EGE","Enteritis eosinofílica","Gastroenterocolitis eosinofílica"],"definition":"Es una enfermedad gastrointestinal benigna rara caracterizada por la presencia de manifestaciones gastrointestinales anómalas e inespecíficas asociadas con la infiltración eosinofílica del aparato gastrointestinal, y que pueden afectar a distintos segmentos y a varias capas de la pared gastrointestinal."},"it":{"name":"Gastroenterite eosinofila","synonyms":["EGE","Enterite eosinofila","Gastroenterocolite eosinofila"],"definition":"La gastroenterite eosinofila (EGE) è una malattia rara gastrointestinale benigna caratterizzata dalla presenza di disturbi gastrointestinali (GI) non specifici, associati ad un'infiltrazione eosinofila del tubo digerente, che può coinvolgere diversi segmenti e strati all'interno della parete GI."},"nl":{"name":"Eosinofiele gastro-enteritis","synonyms":["EGE","Eosinofiele enteritis","Eosinofiele gastro-enterocolitis"],"definition":"Een zeldzame, goedaardige gastro-intestinale aandoening gekarakteriseerd door de aanwezigheid van abnormale en niet-specifieke gastro-intestinale (GI) manifestaties, geassocieerd met een eosinofiele infiltratie van het maag-darmkanaal die verschillende segmenten kan aantasten, alsook verschillende lagen van de gastro-intestinale wand."},"pt":{"name":"Gastroenterite eosinofílica"},"pl":{"name":"Eozynofilowe zapalenie żółądka i jelit","synonyms":["EGE","Eozynofilowe zapalenie jelit"]},"cs":{"name":"Eozinofilní gastroenteritida","synonyms":["EGE","Eozinofilní enteritida","Eozinofilní gastroenterokolitida"]},"uk":{"name":"Еозинофільний гастроентерит","synonyms":["EGE","Еозинофільний ентерит","Еозинофільний гастроентероколіт"],"definition":"A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall."},"zh":{"name":"嗜酸细胞性胃肠炎","synonyms":["嗜酸细胞性胃小肠结肠炎"]},"tr":{"name":"Eozinofilik gastroenterit","synonyms":["EGE","Eozinofilik enterit","Eozinofilik gastroenterokolit"]}},"xrefs":[{"source":"ICD-10","code":"K52.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA94.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"448959702"},{"source":"MONDO","code":"0016129","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535952","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1262481","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017902","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":402029,"name":"Primary eosinophilic gastrointestinal disease","classifications":[152]},{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":280.0,"area":"Worldwide","status":"Validated","source":"11345185[PMID]_23904840[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.4,"area":"Worldwide","status":"Validated","source":"25988554[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-04","source":"26770900[PMID]_26358020[PMID]_26075112[PMID]","terms":[{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003193","label":"Allergic rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"}]}}