{"orpha":93100,"name":"Renal agenesis, unilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93100/","orphanet_url":"https://www.orpha.net/en/disease/detail/93100","names":{"fr":{"name":"Agénésie rénale unilatérale","definition":"Forme d'agénésie rénale caractérisée par l'absence totale de développement d'un rein, associée à l'absence de l'uretère."},"de":{"name":"Nierenagenesie, unilaterale","definition":"Eine Form der Nierenagenesie, die durch das völlige Fehlen der Entwicklung einer Niere und eines Harnleiters gekennzeichnet ist."},"es":{"name":"Agenesia renal unilateral","definition":"Es una forma de agenesia renal caracterizada por la ausencia completa de desarrollo de un riñón acompañada de un uréter ausente."},"it":{"name":"Agenesia renale unilaterale"},"nl":{"name":"Agenesie van nier, unilateraal","synonyms":["Renale agenesie, unilateraal"],"definition":"Een vorm van agenesie van nier, gekarakteriseerd door volledig gebrek aan ontwikkeling van één nier, in combinatie met afwezigheid van ureter.."},"pt":{"name":"Agenesia renal unilateral"},"pl":{"name":"Agnezja nerki, jednostronna"},"cs":{"name":"Renální ageneze, jednostranná"},"uk":{"name":"Ниркова агенезія, одностороння","definition":"A form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter."},"zh":{"name":"单侧肾缺如","definition":"肾发育不全的一种形式，其特征是一侧肾完全不发育并伴有输尿管缺失。"},"tr":{"name":"Böbrek agenezisi, tek taraflı"}},"xrefs":[{"source":"OMIM","code":"617805","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q60.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB30.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"760295498"},{"source":"MONDO","code":"0019636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053624","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":411709,"name":"Renal agenesis","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"GREB1L","name":"GREB1 like retinoic acid receptor coactivator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29100090[PMID]_29100091[PMID]","hgnc":"31042","ensembl":"ENSG00000141449","omim":"617782","loci":["18q11.1-q11.2"]},{"symbol":"BMP4","name":"bone morphogenetic protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21900877[PMID]","hgnc":"1071","ensembl":"ENSG00000125378","omim":"112262","loci":["14q22.2"]},{"symbol":"DSTYK","name":"dual serine/threonine and tyrosine protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23862974[PMID]_17273976[PMID]","hgnc":"29043","ensembl":"ENSG00000133059","omim":"612666","loci":["1q32.1"]},{"symbol":"FRAS1","name":"Fraser extracellular matrix complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21900877[PMID]_24700879[PMID]","hgnc":"19185","ensembl":"ENSG00000138759","omim":"607830","loci":["4q21.21"]},{"symbol":"FREM1","name":"FRAS1 related extracellular matrix 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24370773[PMID]_20807610[PMID]","hgnc":"23399","ensembl":"ENSG00000164946","omim":"608944","loci":["9p22.3"]},{"symbol":"FREM2","name":"FRAS1 related extracellular matrix 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21900877[PMID]_24700879[PMID]","hgnc":"25396","ensembl":"ENSG00000150893","omim":"608945","loci":["13q13.3"]},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21900877[PMID]_24429398[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]},{"symbol":"UPK3A","name":"uroplakin 3A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15888565[PMID]","hgnc":"12580","ensembl":"ENSG00000100373","omim":"611559","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages","Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"Worldwide","status":"Validated","source":"23449343[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}