{"orpha":97369,"name":"Renal tubular dysgenesis of genetic origin","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Renal tubular dysgenesis","url":"https://raremap.alftech.space/d/ORPHA-97369/","orphanet_url":"https://www.orpha.net/en/disease/detail/97369","names":{"fr":{"name":"Dysgénésie tubulaire rénale d'origine génétique"},"de":{"name":"Dysgenesie, renale tubuläre, genetisch-bedingte"},"es":{"name":"Disgenesia tubular renal de origen genético"},"it":{"name":"Disgenesia dei tubuli renali con origine genetica"},"nl":{"name":"Renale tubulaire dysgenesie van genetische oorsprong"},"pt":{"name":"Disgenesia tubular renal de origem genética"},"pl":{"name":"Dysgenezja kanalików nerkowych pochodzenia genetycznego"},"cs":{"name":"Geneticky podmíněná renální tubulární dysgeneze"},"uk":{"name":"Генетично обумовлена дисгенезія ниркових канальців"},"zh":{"name":"遗传性肾小管发育不全"},"tr":{"name":"Genetik kökenli renal tübüler disgenezi"}},"xrefs":[{"source":"OMIM","code":"267430","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q63.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB30.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"616055520"},{"source":"MONDO","code":"0009970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681536","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":3033,"name":"Renal tubular dysgenesis","classifications":[147,188,233]}],"children":[],"genes":[{"symbol":"ACE","name":"angiotensin I converting enzyme","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"2707","ensembl":"ENSG00000159640","omim":"106180","loci":["17q23.3"]},{"symbol":"AGT","name":"angiotensinogen","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"333","ensembl":"ENSG00000135744","omim":"106150","loci":["1q42.2"]},{"symbol":"AGTR1","name":"angiotensin II receptor type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"336","ensembl":"ENSG00000144891","omim":"106165","loci":["3q24"]},{"symbol":"REN","name":"renin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116425[PMID]_22095942[PMID]","hgnc":"9958","ensembl":"ENSG00000143839","omim":"179820","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}