{"orpha":93108,"name":"Renal dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Kidney dysplasia"],"definition":"A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93108/","orphanet_url":"https://www.orpha.net/en/disease/detail/93108","names":{"fr":{"name":"Dysplasie rénale","definition":"Malformation rénale rare qui se caractérise par une anomalie du développement rénal entraînant une malformation de l'architecture histologique du rein et la présence de tissus d'origine embryologique, tels que des collerettes mésenchymateuses ou d'autres formes de tissus indifférenciés et métaplasiques. La dysplasie rénale peut être unilatérale ou bilatérale, segmentaire et de gravité variable."},"de":{"name":"Nierendysplasie","synonyms":["Renale Dysplasie"],"definition":"Eine seltene Fehlbildung der Niere(n), bei der die Niere(n) zwar vorhanden, aber in ihrer Entwicklung gestört ist (sind), was zu einer Fehlbildung der histologischen Architektur der Niere und zum Vorhandensein von embryologischem Gewebe wie mesenchymalen Kollaretten oder anderen Formen von undifferenziertem und metaplastischem Gewebe führt. Die Nierendysplasie kann ein- oder beidseitig, segmental und von unterschiedlichem Schweregrad sein."},"es":{"name":"Displasia renal","synonyms":["Displasia de riñón"],"definition":"Es una malformación renal poco frecuente en la que los riñones están presentes pero su desarrollo es anómalo, lo que deriva en una malformación de la arquitectura histológica del riñón y a la presencia de tejido embriológico, a modo de collaretes mesenquimales u otras formas de tejidos metaplásicos e indiferenciados. La displasia renal puede ser uni- o bilateral, segmentaria y de gravedad variable."},"it":{"name":"Displasia renale","definition":"Si tratta di una malformazione rara di uno o entrambi i reni che, pur essendo presenti, mostrano anomalie dello sviluppo che causano una alterazione dell'architettura istologica e la presenza di tessuto embrionale (collaretti mesenchimali o altri tipi di tessuto non differenziato e metaplastico). La displasia renale può essere monolaterale o bilaterale, segmentale e di gravità variabile."},"nl":{"name":"Renale dysplasie","synonyms":["Dysplasie van nier","Nierdysplasie"],"definition":"Een zeldzame malformatie van nier waarbij de nier(en) aanwezig is (zijn) maar ontwikkeling abnormaal is, wat leidt tot malformatie van histologische architectuur van nier en aanwezigheid van embryonaal weefsel, zoals mesenchymale collarette of andere vormen van niet-gedifferentieerde en metaplastische weefsels. Renale dysplasie kan unilateraal of bilateraal zijn, segmentaal, en met variabele gradaties van ernst."},"pt":{"name":"Displasia renal"},"pl":{"name":"Dysplazja nerek","synonyms":["Kidney dysplasia"]},"cs":{"name":"Renální dysplázie","synonyms":["Kidney dysplasia"]},"uk":{"name":"Дисплазія нирок","synonyms":["Дисплазія нирок"],"definition":"A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity."},"zh":{"name":"肾发育不良","synonyms":["Kidney dysplasia"],"definition":"肾发育不良是一种肾脏存在，但发育异常且不完整的肾脏畸形。肾发育不良可以是单侧或双侧的（见这些词条）、节段性的、严重程度不同的，其中肾不发育相当于极度发育不良。"},"tr":{"name":"Böbrek displazisi","synonyms":["Kidney dysplasia"]}},"xrefs":[{"source":"ICD-10","code":"Q61.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB30.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"921320354"},{"source":"MONDO","code":"0019638","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3536714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038433","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":357506,"name":"Genetic non-syndromic renal or urinary tract malformation","classifications":[156]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[{"orpha":93173,"name":"Renal dysplasia, bilateral","type":"Clinical subtype"},{"orpha":93172,"name":"Renal dysplasia, unilateral","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28566479[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"],"via":{"orpha":93172,"name":"Renal dysplasia, unilateral"}},{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28566479[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"],"via":{"orpha":93173,"name":"Renal dysplasia, bilateral"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages","Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":43.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies[OTHER]_21381187[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-14","source":"33894118 [PMID]_25822765[PMID]_25128997[PMID]","terms":[{"hpo":"HP:0012575","label":"Abnormal nephron morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011130","label":"Abnormal renal calyx morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012596","label":"Moderate proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031501","label":"Pelvic mass","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:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004722","label":"Thickening of the glomerular basement membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012300","label":"Ureteral agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005999","label":"Ureteral atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010957","label":"Congenital posterior urethral valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001586","label":"Vesicovaginal fistula","frequency":"Very rare (<4-1%)","criteria":null}]}}