{"orpha":2111,"name":"Cystic hamartoma of lung and kidney","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Graham-Boyle-Troxell syndrome"],"definition":"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2111/","orphanet_url":"https://www.orpha.net/en/disease/detail/2111","names":{"fr":{"name":"Hamartomatose kystique du poumon et du rein","synonyms":["Syndrome de Graham-Boyle-Troxell"],"definition":"L'hamartomatose kystique du poumon et du rein est une malformation rare du développement rapportée chez trois patients. Il se caractérise par la présence de kystes hamartomateux bénins au niveau du rein et du poumon qui se manifestent cliniquement par des masses abdominales. Les autres signes associés incluent une néphromégalie hyperplasique, une dysplasie médullaire et un néphrome mésoblastique. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1987."},"de":{"name":"Zystisches Hamartom der Lunge und Nieren"},"es":{"name":"Hamartomatosis quística de pulmón y riñón","synonyms":["Síndrome de Graham-Boyle-Troxell"],"definition":"Es un trastorno malformativo del desarrollo descrito en 3 pacientes caracterizado por la presencia de quistes hamartomatosos benignos en riñón y pulmón, presentándose clínicamente como una masa abdominal. Otras características asociadas incluyen nefromegalia hiperplásica, displasia medular y nefroma mesoblástico. No ha habido más descripciones en la literatura desde 1987."},"it":{"name":"Amartomatosi cistica polmone-rene","synonyms":["Sindrome di Graham-Boyle-Troxell"]},"nl":{"name":"Cystisch hamartoom van long en nier","synonyms":["Syndroom van Graham-Boyle-Troxell"],"definition":"Cystisch hamartoom van long en nier is een zeldzame ontwikkelingsstoornis die in 3 patiënten werd beschreven. Karakteristiek is de aanwezigheid van goedaardige hamartomateuze cystes in de nieren en longen die zich klinisch manifesteren als een zwelling aan de buik. Andere geassocieerde kenmerken omvatten hyperplastische nefromegalie, medullaire dysplasie en mesoblastisch nefroom. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Hamartoma quístico do pulmão e rim","synonyms":["Síndrome Graham-Boyle-Troxell"]},"pl":{"name":"Hamartoma torbielowata płuc i nerki","synonyms":["Zespół Grahama, Boyle'a i Troxella"]},"cs":{"name":"Cystický hamartom plic a ledviny","synonyms":["Grahamův-Boyleův-Troxellův syndrom","Graham-Boyle-Troxellův syndrom"]},"uk":{"name":"Кістозна гамартома легень та нирок","synonyms":["Синдром Грехема-Бойла-Трокселла"],"definition":"Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987."},"zh":{"name":"肺和肾囊性错构瘤","synonyms":["Graham-Boyle-Troxell综合征"]},"tr":{"name":"Akciğer ve böbreğin kistik hamartomu","synonyms":["Graham-Boyle-Troxell sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"642866971"},{"source":"MONDO","code":"0023275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537292","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931468","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2557","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93619,"name":"Rare renal tumor","classifications":[188,202]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3605206[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3605206[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}