{"orpha":730,"name":"Autosomal dominant polycystic kidney disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADPKD"],"definition":"A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-730/","orphanet_url":"https://www.orpha.net/en/disease/detail/730","names":{"fr":{"name":"Polykystose rénale autosomique dominante","synonyms":["ADPKD","PKD"],"definition":"Néphropathie tubulaire rare d'origine génétique caractérisée par le développement progressif de kystes liquidiens résultent d'une croissance anormale de l'épithélium, pouvant se manifester par une hématurie, des infections des voies urinaires, une hypertension et des douleurs abdominales ou au niveau des flancs. Le déclin lent et progressif de la fonction rénale peut évoluer vers une insuffisance rénale terminale (ESKD)."},"de":{"name":"Nierenkrankheit, polyzystische, autosomal-dominante","synonyms":["ADPKD"],"definition":"Eine genetisch bedingte tubuläre Nierenerkrankung, die durch fortschreitende Wucherung flüssigkeitsgefüllter Zysten im Nierenepithel gekennzeichnet ist und sich durch Hämaturie, Harnwegsinfektionen, Bluthochdruck und Bauch- oder Flankenschmerzen äußern kann. Der langsam fortschreitende Verlust der Nierenfunktion kann zur terminalen Niereninsuffizienz (ESRD) führen."},"es":{"name":"Enfermedad renal poliquística autosómica dominante","synonyms":["PQRAD","Poliquistosis renal autosómica dominante"],"definition":"Es una enfermedad renal tubular, de base genética, poco frecuente, caracterizada la aparición progresiva de quistes llenos de líquido en el epitelio renal, que pueden manifestarse como hematuria, infecciones del tracto urinario, hipertensión y dolor abdominal o en flanco. La pérdida lenta , progresiva de la función renal puede derivar en una enfermedad renal terminal (ERT)."},"it":{"name":"Malattia del rene policistico, autosomica dominante","synonyms":["ADPKD"],"definition":"Il rene policistico autosomico dominante (ADPKD) è una malattia genetica rara dei tubuli renali, caratterizzata dalla crescita progressiva di cisti contenenti liquido localizzate nell'epitelio renale. La malattia si manifesta con ematuria, infezioni delle vie urinarie, ipertensione e dolore addominale o al fianco. La perdita della funzionalità renale progredisce lentamente e può evolvere verso la malattia renale terminale (ESKD)."},"nl":{"name":"Autosomaal dominante polycystische nierziekte","synonyms":["ADPKD"],"definition":"Een zeldzame, genetische aandoening van niertubulus, gekarakteriseerd door progressieve uitgroeisels van met vocht gevulde cysten uit renaal epitheel, wat zich kan manifesteren met hematurie, urineweginfectie, hypertensie, en buik- of flankpijn. Het traag progressieve verlies van nierfunctie kan evolueren naar terminaal nierfalen."},"pt":{"name":"Doença renal poliquística autossómica dominante"},"pl":{"name":"Autosomalna dominująca wielotorbielowatość nerek","synonyms":["ADPKD"]},"cs":{"name":"Autozomálně dominantní polycystóza ledvin","synonyms":["ADPKD"]},"uk":{"name":"Аутосомно-домінантний полікістоз нирок","synonyms":["ADPKD"],"definition":"A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD)."},"zh":{"name":"常染色体显性多囊肾病","synonyms":["ADPKD"]},"tr":{"name":"Otozomal dominant polikistik böbrek hastalığı","synonyms":["ADPKD"]}},"xrefs":[{"source":"OMIM","code":"173900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600666","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613095","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618061","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620056","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620903","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"GB81","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"91220434"},{"source":"MONDO","code":"0004691","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085413","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10413","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036046","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":399824,"name":"Rare disorder with obstructive azoospermia","classifications":[201]},{"orpha":400003,"name":"Rare genetic disorder with obstructive azoospermia","classifications":[156]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"BICC1","name":"BicC family RNA binding protein 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21922595[PMID]","hgnc":"19351","ensembl":"ENSG00000122870","omim":"614295","loci":["10q21.1"]},{"symbol":"ALG9","name":"ALG9 alpha-1,2-mannosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31395617[PMID]","hgnc":"15672","ensembl":"ENSG00000086848","omim":"606941","loci":["11q23.1"]},{"symbol":"DNAJB11","name":"DnaJ heat shock protein family (Hsp40) member B11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29706351[PMID]","hgnc":"14889","ensembl":"ENSG00000090520","omim":"611341","loci":["3q27.3"]},{"symbol":"IFT140","name":"intraflagellar transport 140","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34890546[PMID]","hgnc":"29077","ensembl":"ENSG00000187535","omim":"614620","loci":["16p13.3"]},{"symbol":"ALG5","name":"ALG5 dolichyl-phosphate beta-glucosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35896117[PMID]","hgnc":"20266","ensembl":"ENSG00000120697","omim":"604565","loci":["13q13.3"]},{"symbol":"GANAB","name":"glucosidase II alpha subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27259053[PMID]","hgnc":"4138","ensembl":"ENSG00000089597","omim":"104160","loci":["11q12.3"]},{"symbol":"NEK8","name":"NIMA related kinase 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37598857[PMID]","hgnc":"13387","ensembl":"ENSG00000160602","omim":"609799","loci":["17q11.2"]},{"symbol":"PKD1","name":"polycystin 1, transient receptor potential channel interacting","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301424[PMID]","hgnc":"9008","ensembl":"ENSG00000008710","omim":"601313","loci":["16p13.3"]},{"symbol":"PKD2","name":"polycystin 2, transient receptor potential cation channel","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301424[PMID]","hgnc":"9009","ensembl":"ENSG00000118762","omim":"173910","loci":["4q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":39.6,"area":"Europe","status":"Validated","source":"27325254[PMID]_European Medicines Agency 2018[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-07","source":"20301424[PMID]_31740684[PMID]_31967058[PMID]","terms":[{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001407","label":"Hepatic cysts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012591","label":"Abnormal urinary electrolyte concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012592","label":"Albuminuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011004","label":"Abnormal systemic arterial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008672","label":"Calcium oxalate nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006557","label":"Polycystic liver disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012330","label":"Pyelonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012207","label":"Reduced sperm motility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000791","label":"Uric acid nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011760","label":"Pituitary growth hormone cell adenoma","frequency":"Very rare (<4-1%)","criteria":null}]}}