{"orpha":220,"name":"Denys-Drash syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Drash syndrome","Wilms tumor-DSD syndrome","Wilms tumor-disorder of sex development syndrome"],"definition":"A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220/","orphanet_url":"https://www.orpha.net/en/disease/detail/220","names":{"fr":{"name":"Syndrome de Denys-Drash","synonyms":["Syndrome de Drash","Syndrome de tumeur de Wilms-DSD","Syndrome de tumeur de Wilms-anomalie du développement sexuel"],"definition":"Néphropathie glomérulaire syndromique rare, caractérisée par l'association d'une néphropathie se manifestant par une protéinurie persistante ou un syndrome néphrotique complet, d'un néphroblastome et d'anomalies du développement génito-urinaire. De plus, des anomalies du développement testiculaire sont fréquentes chez les sujets de caryotype 46,XY."},"de":{"name":"Denys-Drash-Syndrom","synonyms":["Drash-Syndrom","Wilms Tumor mit Störung der Geschlechtsentwicklung","Wilms-Tumor-DSD-Syndrom"],"definition":"Eine genetisch bedingte syndromale glomeruläre Erkrankung, die durch die Kombination einer Nephropathie (die sich als persistierende Proteinurie oder offenes nephrotisches Syndrom manifestiert) mit einem Wilms-Tumor und strukturellen Genitalfehlbildungen gekennzeichnet ist. Darüber hinaus treten bei Patienten mit einem 46,XY-Karyotyp häufig Störungen der Hodenentwicklung auf."},"es":{"name":"Síndrome de Denys-Drash","synonyms":["Síndrome de tumor de Wilms-ADS","Síndrome de tumor de Wilms-anomalia del desarrollo sexual"],"definition":"Es un trastorno glomerular sindrómico poco frecuente de origen genético caracterizado por la asociación de nefropatía que se presenta como proteinuria persistente o síndrome nefrótico manifiesto, tumor de Wilms y defectos genitourinarios estructurales. Además, los trastornos del desarrollo testicular son comunes en individuos con cariotipo 46,XY."},"it":{"name":"Sindrome di Denys-Drash","synonyms":["Sindrome di Drash","Tumore di Wilms - pseudoermafroditismo"],"definition":"Si tratta di una glomerulopatia sindromica genetica rara, caratterizzata da nefropatia che esordisce come proteinuria persistente o sindrome nefrosica, tumore di Wilms e anomalie strutturali dell'apparato genitourinario. Inoltre, nei soggetti con cariotipo 46,XY sono comuni i disturbi dello sviluppo testicolare."},"nl":{"name":"Syndroom van Denys-Drash","synonyms":["Syndroom van Drash","Wilmstumor - DSD-syndroom","Wilmstumor - geslachtsontwikkelingsstoornis-syndroom"],"definition":"Een zeldzame, genetische, syndromale glomerulaire aandoening, gekarakteriseerd door de associatie van nefropathie die zich presenteert als persisterende proteïnurie of manifest nefrotisch syndroom, Wilmstumor en urogenitale structurele defecten. Daarnaast zijn aandoeningen van de ontwikkeling van testikels gangbaar bij individuen met karyotype 46,XY."},"pt":{"name":"Síndrome Denys-Drash","synonyms":["Síndrome de tumor de Wilms-DSD","Síndrome de tumor de Wilms-doença do desenvolvimento sexual","Síndrome Drash"],"definition":"Doença glomerular genética sindrómica rara, caracterizada pela associação de nefropatia que se manifesta como proteinúria persistente ou síndrome nefrótico evidente, tumor Wilms e defeitos estruturais geniturinários. Além disso, as perturbações do desenvolvimento testicular são comuns em indivíduos com cariótipo 46,XY."},"pl":{"name":"Zespół Denysa i Drasha","synonyms":["Guz Wilmsa i pseudohermfrodytyzm","Zespół Drasha"]},"cs":{"name":"Denysův-Drashův syndrom","synonyms":["Drashův syndrom","Wilmsův tumor a pseudohermafroditismus","Denys-Drashův syndrom"]},"uk":{"name":"Синдром Дениса-Драша","synonyms":["Синдром Драша","Синдром пухлини Вільмса - порушення статевого розвитку","Пухлина Вільмса - синдром DSD"],"definition":"A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype."},"zh":{"name":"Denys-Drash综合征","synonyms":["Wilms瘤-性分化障碍综合征"]},"tr":{"name":"Denys-Drash sendromu","synonyms":["Drash sendromu","Wilms tümörü-DSD sendromu","Wilms tümör-cinsiyet gelişim sendromu bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"194080","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N04.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"904981302"},{"source":"MONDO","code":"0008682","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D030321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0950121","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5576","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070179","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1655284[PMID]","hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-01","source":null,"terms":[{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Occasional (29-5%)","criteria":null}]}}