{"orpha":93592,"name":"Juvenile nephronophthisis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Nephronophthisis","url":"https://raremap.alftech.space/d/ORPHA-93592/","orphanet_url":"https://www.orpha.net/en/disease/detail/93592","names":{"fr":{"name":"Néphronophtise juvénile"},"de":{"name":"Nephronophthise, juvenile Form"},"es":{"name":"Nefronoptisis juvenil"},"it":{"name":"Nefronoftisi giovanile"},"nl":{"name":"Juveniele nefronoftise"},"pt":{"name":"Doença renal quística medular, autossómica recessiva, juvenil"},"pl":{"name":"Nefronoftyza młodzieńcza"},"cs":{"name":"Juvenilní forma nefronoftízy"},"uk":{"name":"Ювенільний нефронофтіз"},"zh":{"name":"少年型肾结核"},"tr":{"name":"Juvenil nefronoftiz"}},"xrefs":[{"source":"OMIM","code":"256100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615382","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB83","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"502211326"},{"source":"MONDO","code":"0009728","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537699","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855681","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":655,"name":"Nephronophthisis","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"GLIS2","name":"GLIS family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17618285[PMID]","hgnc":"29450","ensembl":"ENSG00000126603","omim":"608539","loci":["16p13.3"]},{"symbol":"MAPKBP1","name":"mitogen-activated protein kinase binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28089251[PMID]","hgnc":"29536","ensembl":"ENSG00000137802","omim":"616786","loci":["15q15.1"]},{"symbol":"ADAMTS9","name":"ADAM metallopeptidase with thrombospondin type 1 motif 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30609407[PMID]","hgnc":"13202","ensembl":"ENSG00000163638","omim":"605421","loci":["3p14.1"]},{"symbol":"ANKS6","name":"ankyrin repeat and sterile alpha motif domain containing 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23793029[PMID]","hgnc":"26724","ensembl":"ENSG00000165138","omim":"615370","loci":["9q22.33"]},{"symbol":"NPHP1","name":"nephrocystin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7905","ensembl":"ENSG00000144061","omim":"607100","loci":["2q13"]},{"symbol":"NPHP4","name":"nephrocystin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19104","ensembl":"ENSG00000131697","omim":"607215","loci":["1p36.31"]},{"symbol":"WDR19","name":"WD repeat domain 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22019273[PMID]","hgnc":"18340","ensembl":"ENSG00000157796","omim":"608151","loci":["4p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}