{"orpha":893,"name":"WAGR syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(11)(p13)","Deletion 11p13","Monosomy 11p13","Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome"],"definition":"A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-893/","orphanet_url":"https://www.orpha.net/en/disease/detail/893","names":{"fr":{"name":"Syndrome WAGR","synonyms":["Del(11)(p13)","Délétion 11p13","Monosomie 11p13","Syndrome de tumeur de Wilms-aniridie-anomalies génito-urinaires-déficience intellectuelle"],"definition":"Maladie génétique rare caractérisée par l'association d'une aniridie congénitale totale ou partielle (avec anomalies de l'oeil), d'anomalies génito-urinaires (allant d'une ambiguïté sexuelle à une ectopie testiculaire) et d'une déficience intellectuelle de degré variable, ainsi qu'un risque accru de tumeurs de Wilms. Une minorité de patients développent une insuffisance rénale. Parmi les autres manifestations, inconstantes, figurent l'obésité et un hallux valgus double."},"de":{"name":"WAGR-Syndrom","synonyms":["Del(11)(p13)","Deletion 11p13","Monosomie 11p13","Wilms-Tumor-Aniridie-urogenitale Anomalien-Intelligenzminderung-Syndrom"],"definition":"Eine seltene genetische Störung, die durch die Kombination von vollständiger oder partieller kongenitaler Aniridie (und damit verbundenen Augenanomalien), urogenitalen Anomalien (von sexueller Ambiguität bis hin zu ektopischen Hoden), unterschiedlich starker Intelligenzminderung und einem erhöhten Risiko für die Entwicklung von Wilms-Tumoren gekennzeichnet ist. Eine Minderheit der Patienten entwickelt Nierenversagen. Weitere mögliche Befunde sind Adipositas und doppelte Großzehen."},"es":{"name":"Síndrome WAGR","synonyms":["Del(11)(p13)","Deleción 11p13","Monosomía 11p13","Síndrome de tumor de Wilms-aniridia-anomalías genitourinarias-discapacidad intelectual"],"definition":"Es un trastorno genético poco frecuente caracterizado por la asociación de aniridia congénita total o parcial (y de anomalías oculares asociadas), anomalías genitourinarias (desde ambigüedad sexual hasta ectopia testicular), grados variables de discapacidad intelectual y un mayor riesgo de desarrollar un tumor de Wilms. Una minoría de pacientes desarrolla insuficiencia renal. Otros hallazgos variables incluyen la obesidad y la duplicación del hállux."},"it":{"name":"Sindrome WAGR","synonyms":["Delezione 11p13","Monosomia 11p13","Del(11)(p13)","Sindrome tumore di Wilms-aniridia-anomalie urogenitali-disabilità intellettiva"],"definition":"La sindrome WAGR (tumore di Wilms - Aniridia - anomalie Genitourinarie - disabilità intellettiva - Ritardo mentale) è una malattia genetica rara, caratterizzata da un'associazione inusuale di anomalie congenite dello sviluppo, disabilità intellettiva e un rischio aumentato di sviluppare il tumore di Wilms."},"nl":{"name":"WAGR-syndroom","synonyms":["Del(11)(p13)","Deletie 11p13","Monosomie 11p13","Wilmstumor - aniridie - genito-urinaire anomalieën - intellectuele achterstand-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door de associatie van volledige of gedeeltelijke congenitale aniridie (en geassocieerde oogafwijkingen), urogenitale anomalieën (gaande van seksuele ambiguïteit tot ectopische testis), variabele gradaties van intellectuele achterstand en verhoogd risico op ontwikkeling van Wilmstumor. Een minderheid van de patiënten ontwikkelt nierfalen. Overige variabele bevindingen zijn onder meer obesitas en duplicatie van duim."},"pt":{"name":"Síndrome WAGR","synonyms":["Del(11)(p13)","Deleção 11p13","Monossomia 11p13","Tumor de Wilms-aniridia-anomalias genitourinárias-perturbação do desenvolvimento intelectual"],"definition":"Doença genética rara caracterizada pela associação de aniridia congénita completa ou parcial (e anomalias oculares associadas), anomalias geniturinárias (que variam de ambiguidade genital a testículo ectópico), graus variáveis ​​de perturbação do desenvolvimento intelectual e um risco aumentado de desenvolver tumores de Wilms. Uma minoria de doentes desenvolve insuficiência renal. Outros achados variáveis ​​podem incluir obesidade e hálux duplicado."},"pl":{"name":"Zespół WAGR","synonyms":["Del(11)(p13)","Delecja 11p13","Monosomia 11p13","Zespół guza Wilmsa, aniridii, wad moczowo-płciowych i niepełnosprawności intelektualnej"],"definition":"Rzadki genetycznie uwarunkowany zespół charakteryzujące się całkowitą lub częściową wrodzoną aniridią (i innymi wadami oczu), wadami układu moczowo-płciowego (obojnactwo, ektopia jąder), różnego stopnia niepełnosprawnością intelektualną i zwiększonym ryzykiem rozwoju guzów Wilmsa. U pewnego odsetka pacjentów rozwija się niewydolność nerek. Inne objawy obejmują otyłość i zdwojone haluksy."},"cs":{"name":"WAGR syndrom","synonyms":["Delece 11p13","Monozomie 11p13","Syndrom zahrnující Wilmsův tumor, aniridii, anomálie močopohlavního systému a mentální retardaci"]},"uk":{"name":"Синдром WAGR","synonyms":["Del(11)(p13)","Делеція 11p13","Моносомія 11p13","Синдром пухлини Вільмса - аніридії - аномалій сечостатевої системи - інтелектуальної недостатності"],"definition":"A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces."},"zh":{"name":"WAGR综合征","synonyms":["Wilms瘤-无虹膜-泌尿生殖道畸形-智力障碍综合征"]},"tr":{"name":"WAGR sendromu","synonyms":["Del (11) (p13)","Delesyon 11p13","Monozomi 11p13","Wilms tümörü-aniridi-genitoüriner anomaliler-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"194072","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612469","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1858307812"},{"source":"MONDO","code":"0008681","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017624","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206115","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5528","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":261947,"name":"Partial deletion of the short arm of chromosome 11 syndrome","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"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]},{"orpha":98557,"name":"Syndromic aniridia","classifications":[147,156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"BDNF","name":"brain derived neurotrophic factor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23266638[PMID]_18753648[PMID]","hgnc":"1033","ensembl":"ENSG00000176697","omim":"113505","loci":["11p14.1"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301534[PMID]_23266638[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]},{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301534[PMID]_23266638[PMID]","hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Validated","source":"20301534[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008053","label":"Aplasia/Hypoplasia of the iris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007299","label":"Dysfunction of lateral corticospinal tracts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}