{"orpha":656130,"name":"PBX1-related congenital anomalies of kidney-urinary tract syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PBX1-related syndromic CAKUT"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-656130/","orphanet_url":"https://www.orpha.net/en/disease/detail/656130","names":{"fr":{"name":"Syndrome d'anomalies congénitales du rein et des voies urinaires associé à PBX1","synonyms":["CAKUT syndromique associé à PBX1"]},"de":{"name":"Syndrom der PBX1-assoziierten kongenitale Anomalien der Niere und der ableitenden Harnwege","synonyms":["CAKUT-Syndrom, PBX1-assoziiertes","CAKUTHED-Syndrom"]},"es":{"name":"Síndrome de anomalías congénitas del riñón y del tracto urinario asociado a PBX1","synonyms":["Síndrome CAKUT asociado a PBX1"]},"it":{"name":"Sindrome anomalie congenite del rene e delle vie urinarie correlata a PBX1","synonyms":["CAKUT sindromica correlata a PBX1","Sindrome CAKUT correlata a PBX1"]},"nl":{"name":"Syndroom van PBX1-gerelateerde congenitale anomalieën van nier en urinewegen","synonyms":["PBX1-gerelateerde syndromale CAKUT"]},"pt":{"name":"Síndrome de anomalias congénitas dos rins e do trato urinário PBX1-relacionada","synonyms":["CAKUT sindrómico PBX1-relacionada"]},"pl":{"name":"Wrodzony zespół wad nerek i dróg moczowych związany z PBX1","synonyms":["Zespół wrodzonych wad nerek i dróg moczowych związany z PBX1"]},"cs":{"name":"Syndrom vrozených anomálií ledvin a močových cest souvisejících s PBX1","synonyms":["PBX1-related syndromic CAKUT"]},"uk":{"name":"Вроджені аномалії нирок та сечовивідних шляхів, повязані з PBX1","synonyms":["Синдром CAKUT, повязаний з PBX1"]}},"xrefs":[{"source":"OMIM","code":"617641","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060549","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"60549","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925107","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"PBX1","name":"PBX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28566479[PMID]","hgnc":"8632","ensembl":"ENSG00000185630","omim":"176310","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}