{"orpha":654,"name":"Nephroblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Renal embryonic tumor","Wilms tumor"],"definition":"A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-654/","orphanet_url":"https://www.orpha.net/en/disease/detail/654","names":{"fr":{"name":"Néphroblastome","synonyms":["Tumeur de Wilms","Tumeur embryonnaire rénale"],"definition":"Le néphroblastome est la plus fréquente des tumeurs rénales malignes chez l'enfant et est en rapport avec une prolifération anormale de cellules ressemblant à celles du rein de l'embryon (métanéphrome), d'où la terminologie : « tumeur embryonnaire »."},"de":{"name":"Nephroblastom","synonyms":["Nierentumor, embryonaler","Wilms Tumor"],"definition":"Das Nephroblastom (Wilms-Tumor), der häufigste Nierentumor der Kinder, ist gekennzeichnet durch abnorme Proliferation von Zellen, die den Nierenzellen des Embryos ähneln (Metanephrom), weshalb von einem embryonalen Tumor gesprochen wird."},"es":{"name":"Nefroblastoma","synonyms":["Tumor de Wilms","Tumor renal embrionario"],"definition":"Es un tumor renal maligno poco frecuente que afecta, típicamente, a la población pediátrica y está asociado a una proliferación anómala de células parecidas a las células del riñón del embrión (metanefroma), de dónde viene el término de tumor embrionario."},"it":{"name":"Nefroblastoma","synonyms":["Tumore di Wilms","Tumore embrionale del rene"]},"nl":{"name":"Nefroblastoom","synonyms":["Embryonale niertumor","Wilmstumor"],"definition":"Een zeldzame, maligne niertumor die doorgaans de pediatrische populatie treft en die gekarakteriseerd wordt door een abnormale proliferatie van cellen die lijken op de niercellen van een embryo (metanefroom), vandaar de term embryonale tumor."},"pt":{"name":"Nefroblastoma","synonyms":["Tumor de Wilms"],"definition":"O nefroblastoma é o tumor renal maligno mais frequente em crianças e está associado a uma proliferação anormal de células que se assemelham a células renais de um embrião (metanefroma), levando ao termo tumor embrionário."},"pl":{"name":"Nerczak zarodkowy","synonyms":["Guz Wilmsa","Nerczak płodowy"]},"cs":{"name":"Nefroblastom","synonyms":["Embryonální smíšený nádor ledviny","Wilmsův tumor"]},"uk":{"name":"Нефробластома","synonyms":["Ембріональна пухлина нирки","Пухлина Вільмса"],"definition":"A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor."},"zh":{"name":"肾母细胞瘤","synonyms":["肾脏畸胎瘤"]},"tr":{"name":"Nefroblastom","synonyms":["Wilms tümörü","Renal embriyonik tümör"]}},"xrefs":[{"source":"OMIM","code":"194070","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"194071","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"194090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601363","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601583","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616806","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"712023399"},{"source":"MONDO","code":"0019004","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009396","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027708","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7892","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029145","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183595,"name":"Genetic renal tumor","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93619,"name":"Rare renal tumor","classifications":[188,202]}],"children":[],"genes":[{"symbol":"GPC3","name":"glypican 3","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"12085187[PMID]_25366870[PMID]","hgnc":"4451","ensembl":"ENSG00000147257","omim":"300037","loci":["Xq26.2"]},{"symbol":"BRCA2","name":"BRCA2 DNA repair associated","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"15689453[PMID]","hgnc":"1101","ensembl":"ENSG00000139618","omim":"600185","loci":["13q13.1"]},{"symbol":"TRIP13","name":"thyroid hormone receptor interactor 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28553959[PMID]","hgnc":"12307","ensembl":"ENSG00000071539","omim":"604507","loci":["5p15.33"]},{"symbol":"CTR9","name":"CTR9 component of Paf1/RNA polymerase II complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39293508[PMID]_25099282[PMID]","hgnc":"16850","ensembl":"ENSG00000198730","omim":"609366","loci":["11p15.4"]},{"symbol":"TRIM28","name":"tripartite motif containing 28","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29912901[PMID]","hgnc":"16384","ensembl":"ENSG00000130726","omim":"601742","loci":["19q13.43"]},{"symbol":"TRIM28","name":"tripartite motif containing 28","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"29912901[PMID]","hgnc":"16384","ensembl":"ENSG00000130726","omim":"601742","loci":["19q13.43"]},{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]},{"symbol":"DIS3L2","name":"DIS3 like 3'-5' exoribonuclease 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"28648","ensembl":"ENSG00000144535","omim":"614184","loci":["2q37.1"]},{"symbol":"POU6F2","name":"POU class 6 homeobox 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"21694","ensembl":"ENSG00000106536","omim":"609062","loci":["7p14.1"]},{"symbol":"REST","name":"RE1 silencing transcription factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26551668[PMID]","hgnc":"9966","ensembl":"ENSG00000084093","omim":"600571","loci":["4q12"]},{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]},{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Europe","status":"Validated","source":"22357215[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.65,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.144,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.072,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.089,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.065,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.066,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.121,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.195,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.155,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.139,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.158,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.111,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.157,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.131,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.111,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.162,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.144,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.113,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.135,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.176,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-21","source":"28723033[PMID]_27512767[PMID]_26835318[PMID]","terms":[{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005580","label":"Duplication of renal pelvis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031105","label":"Abnormal uterus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033834","label":"Malaise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008330","label":"Reduced von Willebrand factor activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012871","label":"Varicocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very rare (<4-1%)","criteria":null}]}}