{"orpha":97363,"name":"Unilateral multicystic dysplastic kidney","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Unilateral MCDK","Unilateral multicystic renal dysplasia"],"definition":"A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97363/","orphanet_url":"https://www.orpha.net/en/disease/detail/97363","names":{"fr":{"name":"Dysplasie rénale multikystique unilatérale","synonyms":["MCDK, forme unilatérale"],"definition":"Forme rare de dysplasie rénale multikystique (MCDK), entrant dans le cadre des anomalies congénitales du rein et des voies urinaires (CAKUT pour congenital anomaly of the kidney and urinary tract), qui se caractérise par un gros rein non fonctionnel, distendu en raison de la présence de multiples kystes."},"de":{"name":"Nierendysplasie, multizystische, unilaterale Form","synonyms":["MCDK, unilateral","Unilaterale multizystische renale Dysplasie"],"definition":"Eine seltene Form der multizystischen dysplastischen Niere (MCDK), bei der die Niere groß, durch zahlreiche Zysten erweitert und funktionslos ist. Sie gehört zum Formenkreis der CAKUT (Congenital Anomalies of the Kidneys and the Urinary Tract), einer Gruppe von Störungen, die mit angeborenen Fehlbildungen der Nieren und der ableitenden Harnwege einhergehen."},"es":{"name":"Riñón displásico multiquístico unilateral","synonyms":["Displasia renal multiquística unilateral","MCDK unilateral"],"definition":"Es una forma poco frecuente de riñón displásico multiquístico (RDMQ), una anomalía congénita del riñón y del tracto urinario (CAKUT), caracterizada por la presencia de un riñón agrandado, distendido por múltiples quistes y no funcional."},"it":{"name":"Rene displastico multicistico unilaterale","synonyms":["Displasia renale multicistica unilaterale","MCDK unilaterale"],"definition":"Si tratta di una forma rara di displasia renale multicistica (MCDK), un'anomalia congenita dei reni e delle vie urinarie (CAKUT), nella quale un rene è aumentato di volume, disteso per la presenza di cisti multiple e non è funzionante."},"nl":{"name":"Unilaterale multicystische dysplastische nier","synonyms":["Unilaterale MCDK","Unilaterale multicystische nierdysplasie","Unilaterale multicystische renale dysplasie"],"definition":"Een zeldzame vorm of multicystische dysplastische nier (MCDK), een congenitale anomalie van nier en urinewegstelsel (CAKUT), waarbij één nier groot, opgezwollen door multipele cysten, en niet-functioneel is."},"pt":{"name":"Displasia renal, multiquística, unilateral"},"pl":{"name":"Jednostronna wielotorbielowata nerka dysplastyczna","synonyms":["Jednostronna MCDK","Jednostronna wielotorbielowata dysplazja nerki"]},"cs":{"name":"Unilaterální multicystická dysplázie ledvin","synonyms":["Unilaterální MCDK","Unilaterální multicystická renální dysplázie"]},"uk":{"name":"Одностороння мультикістозна диспластична нирка","synonyms":["Односторонній MCDK","Однобічна мультикістозна дисплазія нирок"],"definition":"A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional."},"zh":{"name":"多囊性单侧肾发育不全","synonyms":["单侧多囊肾发育不良"],"definition":"一种罕见的多囊发育不良肾(MCDK)，是一种先天性肾和尿路畸形(CAKUT)，其中一个肾很大，内部有多个肿胀囊肿，且丧失功能。"},"tr":{"name":"Unilateral multikistik displastik böbrek","synonyms":["Unilateral MCDK","Unilateral multikistik böbrek displazisi"]}},"xrefs":[{"source":"ICD-10","code":"Q61.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB30.9","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"577773168"},{"source":"MONDO","code":"0019981","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1567426","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1851,"name":"Multicystic dysplastic kidney","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20155289[PMID]_23725647[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":23.2,"area":"Worldwide","status":"Validated","source":"19171687[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.8,"area":"Europe","status":"Validated","source":"16053904[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":45.4,"area":"United Kingdom","status":"Validated","source":"18278521[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Japan","status":"Validated","source":"11967035[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":108.0,"area":"Saudi Arabia","status":"Validated","source":"12415373[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.4,"area":"Finland","status":"Validated","source":"12532949[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":41.0,"area":"United States","status":"Validated","source":"7776710[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":60.3,"area":"Switzerland","status":"Validated","source":"11683078[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":null}