{"orpha":411709,"name":"Renal agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411709/","orphanet_url":"https://www.orpha.net/en/disease/detail/411709","names":{"fr":{"name":"Agénésie rénale","definition":"Malformation congénitale rare de l'appareil urinaire, caractérisée par l'absence totale de développement de l'un ou des deux reins (agénésie rénale unilatérale ou bilatérale respectivement), associée à l'absence de l'uretère correspondant."},"de":{"name":"Nierenagenesie","definition":"Eine seltene angeborene Fehlbildung der Nieren, die durch das vollständige Fehlen einer oder beider Nieren (unilaterale oder bilaterale Nierenagenesie) und das Fehlen eines oder beider Harnleiter (Ureter) gekennzeichnet ist."},"es":{"name":"Agenesia renal","definition":"Es una malformación congénita poco frecuente del tracto renal que se caracteriza por la ausencia total de desarrollo de uno o ambos riñones (agenesia renal uni- o bilateral, respectivamente), acompañada de ausencia de uréter(es)."},"it":{"name":"Agenesia renale","definition":"L'agenesia renale (AR) è una malformazione congenita rara dell'apparato renale, caratterizzata dal mancato sviluppo di uno o di entrambi i reni (rispettivamente, agenesia monolaterale o bilaterale), associata all'agenesia di uno o di entrambi gli ureteri."},"nl":{"name":"Renale agenesie","synonyms":["Agenesie van nier"],"definition":"Een zeldzame congenitale malformatie van urinewegstelsel, gekarakteriseerd door volledige afwezigheid van ontwikkeling van een of beide nieren (respectievelijk unilaterale of bilaterale agenesie van nier), vergezeld van afwezigheid van ureter(s)."},"pt":{"name":"Agenesia renal"},"pl":{"name":"Agnezja nerki"},"cs":{"name":"Ageneze ledviny","synonyms":["Ageneze ledvin"]},"uk":{"name":"Ниркова агенезія","definition":"A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s)."},"zh":{"name":"肾发育不全","definition":"罕见的先天性肾道畸形，其特征为一个或两个肾脏完全不发育（分别为单侧或双侧肾发育不全），并伴有输尿管缺失。"},"tr":{"name":"Böbrek agenezi"}},"xrefs":[{"source":"OMIM","code":"191830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615721","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q60.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q60.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q60.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB30.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"683319223"},{"source":"MONDO","code":"0018470","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0542519","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9228","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":357506,"name":"Genetic non-syndromic renal or urinary tract malformation","classifications":[156]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[{"orpha":1848,"name":"Renal agenesis, bilateral","type":"Clinical subtype"},{"orpha":93100,"name":"Renal agenesis, unilateral","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FGF20","name":"fibroblast growth factor 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22698282[PMID]","hgnc":"3677","ensembl":"ENSG00000078579","omim":"605558","loci":["8p22"],"via":{"orpha":1848,"name":"Renal agenesis, bilateral"}},{"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"],"via":{"orpha":1848,"name":"Renal agenesis, bilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18252215[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"],"via":{"orpha":1848,"name":"Renal agenesis, bilateral"}},{"symbol":"WNT9B","name":"Wnt family member 9B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34145744[PMID]","hgnc":"12779","ensembl":"ENSG00000158955","omim":"602864","loci":["17q21.32"],"via":{"orpha":1848,"name":"Renal agenesis, bilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}},{"symbol":"GFRA1","name":"GDNF family receptor alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34737117[PMID]","hgnc":"4243","ensembl":"ENSG00000151892","omim":"601496","loci":["10q25.3"],"via":{"orpha":1848,"name":"Renal agenesis, bilateral"}},{"symbol":"ITGA8","name":"integrin subunit alpha 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24439109[PMID]","hgnc":"6144","ensembl":"ENSG00000077943","omim":"604063","loci":["10p13"],"via":{"orpha":1848,"name":"Renal agenesis, bilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}},{"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"],"via":{"orpha":93100,"name":"Renal agenesis, unilateral"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24370773[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24370773[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-01","source":"20984673[PMID]_22698282[PMID]_22698282[PMID]_25053522[PMID]","terms":[{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012300","label":"Ureteral agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012873","label":"Absent vas deferens","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010476","label":"Aplasia/Hypoplasia of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008684","label":"Aplasia/hypoplasia of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010958","label":"Bilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002009","label":"Potter facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}