{"orpha":1848,"name":"Renal agenesis, bilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1848/","orphanet_url":"https://www.orpha.net/en/disease/detail/1848","names":{"fr":{"name":"Agénésie rénale bilatérale","definition":"Forme d'agénésie rénale caractérisée par l'absence totale de développement des reins et des uretères, et donc une absence de fonction rénale foetale aboutissant à une séquence de Potter avec hypoplasie pulmonaire, associée à un oligohydramnios et une issue fatale peu après la naissance."},"de":{"name":"Nierenagenesie, bilaterale","definition":"Eine Form der Nierenagenesie, bei der die Nierenentwicklung vollständig ausbleibt, keine Ureteren vorhanden sind und die fetale Nierenfunktion später ausbleibt, was zu einer Potter-Sequenz mit Lungenhypoplasie und Oligohydramnion führt, die kurz nach der Geburt tödlich endet."},"es":{"name":"Agenesia renal bilateral","definition":"Es una forma de agenesia renal caracterizada por la ausencia completa de desarrollo renal, la ausencia de uréteres y el déficit subsiguiente de función renal fetal dando luagr a la secuencia de Potter con hipoplasia pulmonar asociada a oligohidramnios, que resulta fatal poco después del nacimiento."},"it":{"name":"Agenesia renale bilaterale"},"nl":{"name":"Agenesie van nier, bilateraal","synonyms":["Renale agenesie, bilateraal"],"definition":"Een vorm van agenesie van nier, gekarakteriseerd door volledig gebrek aan ontwikkeling van nier, afwezigheid van ureters en bijgevolg afwezigheid van foetale nierfunctie, resulterend in Potter-sequentie met pulmonale hypoplasie gerelateerd aan oligohydramnion, dat kort na de geboorte fataal is."},"pt":{"name":"Agenesia renal, bilateral"},"pl":{"name":"Agnezja nerek, obustronna"},"cs":{"name":"Oboustranná ageneze ledvin"},"uk":{"name":"Ниркова агенезія, двостороння","definition":"A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth."},"zh":{"name":"肾缺如，双侧"},"tr":{"name":"Renal agenezi, bilateral"}},"xrefs":[{"source":"OMIM","code":"191830","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615721","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617805","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619887","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q60.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB30.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1209728480"},{"source":"MONDO","code":"0015986","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1609433","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":"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"]},{"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":"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Europe","status":"Validated","source":"16053904[PMID]_EUROCAT European surveillance of congenital anomalies 2009-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.8,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.0,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.7,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.6,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.1,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001958","label":"Nonketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001563","label":"Fetal polyuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010497","label":"Sirenomelia","frequency":"Occasional (29-5%)","criteria":null}]}}