{"orpha":2924,"name":"Isolated polycystic liver disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ADPCLD","Autosomal dominant polycystic liver disease","PCLD"],"definition":"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2924/","orphanet_url":"https://www.orpha.net/en/disease/detail/2924","names":{"fr":{"name":"Polykystose hépatique isolée","synonyms":["ADPCLD","PCLD","Polykystose hépatique autosomique dominante"],"definition":"La polykystose hépatique isolée (PKHI) est une maladie génétique caractérisée par l'apparition de nombreux kystes dans l'ensemble du foie, elle est généralement dénommée polykystose hépatique autosomique dominante."},"de":{"name":"Lebererkrankheit, isolierte polyzystische","synonyms":["Lebererkrankheit, polyzystische, autosomal-dominante Form","PCLD"],"definition":"Die isolierte polyzystische Leberkrankheit (PCLD), eine genetische Krankheit, ist charakterisiert durch das Auftreten zahlreicher Zysten im gesamten Bereich der Leber. In den meisten Fällen wird sie als autosomal-dominante polyzystische Leberkrankheit (ADPCLD) beschrieben."},"es":{"name":"Enfermedad poliquística hepática aislada","synonyms":["ADPCLD","Enfermedad poliquística hepática autosómica dominante","PCLD"],"definition":"La enfermedad poliquística hepática aislada (PCLD) es un trastorno genético que se caracteriza por la aparición de numerosos quistes por todo el hígado y que en la mayoría de los casos se describe como una enfermedad poliquística hepática autosómica dominante (ADPCLD)."},"it":{"name":"Malattia epatica policistica isolata","synonyms":["ADPCLD","Malattia epatica policistica autosomica dominante","PCLD"],"definition":"La malattia epatica policistica isolata (PCLD) è una patologia genetica caratterizzata dalla comparsa di numerose cisti disseminate in tutto il fegato; spesso viene definita malattia epatica policistica autosomica dominante (ADPCLD)."},"nl":{"name":"Geïsoleerde polycystische leverziekte","synonyms":["ADPCLD","Autosomaal dominante polycystische leverziekte","PCLD"],"definition":"Geïsoleerde polycystische leverziekte (PCLD) is een genetische aandoening, gekenmerkt door het verschijnen van talloze cysten verspreid doorheen de lever, en in de meeste gevallen beschreven als autosomaal dominante polycystische leverziekte (ADPCLD)."},"pt":{"name":"Doença hepática poliquística isolada","synonyms":["ADPCLD","Doença hepática poliquística autossómica dominante","PCLD"]},"pl":{"name":"Izolowana wielotorbielowatość wątroby","synonyms":["ADPCLD","Autosomalna dominująca wielotorbielowatość wątroby","PCLD"]},"cs":{"name":"Izolovaná polycystická nemoc jater","synonyms":["APDCLD","PCLD","Autozomálně dominantní polycystická nemoc jater"]},"uk":{"name":"Ізольований полікістоз печінки","synonyms":["ADPCLD","Аутосомно-домінантна полікістозна хвороба печінки","PCLD"],"definition":"Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)."},"zh":{"name":"孤立型多囊肝病","synonyms":["常染色体显性遗传性多囊肝病"]},"tr":{"name":"İzole polikistik karaciğer hastalığı","synonyms":["PCLD","ADPCLD","Otozomal dominant polikistik karaciğer hastalığı"]}},"xrefs":[{"source":"OMIM","code":"174050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617004","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617874","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617875","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q44.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"DB99.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1361740083"},{"source":"MONDO","code":"447","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536330","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4255088","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9457","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048834","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"ALG8","name":"ALG8 alpha-1,3-glucosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28375157[PMID]","hgnc":"23161","ensembl":"ENSG00000159063","omim":"608103","loci":["11q14.1"]},{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24706814[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]},{"symbol":"PRKCSH","name":"PRKCSH beta subunit of glucosidase II","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24886261[PMID]","hgnc":"9411","ensembl":"ENSG00000130175","omim":"177060","loci":["19p13.2"]},{"symbol":"SEC63","name":"SEC63 protein translocation regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24886261[PMID]","hgnc":"21082","ensembl":"ENSG00000025796","omim":"608648","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-11","source":"32231761[PMID]_20219621[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006557","label":"Polycystic liver disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033842","label":"Early satiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003573","label":"Increased total bilirubin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}