{"orpha":655,"name":"Nephronophthisis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-655/","orphanet_url":"https://www.orpha.net/en/disease/detail/655","names":{"fr":{"name":"Néphronophtise","definition":"Ciliopathie avec atteinte rénale rare, d'origine génétique, caractérisée par un défaut de concentration des solutés par les reins, une néphropathie tubulointerstitielle chronique, une maladie kystique rénale évoluant vers l'insuffisance rénale terminale (IRT). Les trois sous-types cliniques sont caractérisés par l'âge d'apparition de l'IRT à savoir, l'âge infantile, l'âge juvénile et l'apparition tardive."},"de":{"name":"Nephronophthise","definition":"Eine genetisch bedingte Ziliopathie der Nieren, die durch eine verminderte Konzentrationsfähigkeit der Nieren für gelöste Stoffe, eine chronische tubulointerstitielle Nephritis, gelegentliches Auftreten von Zysten und das Fortschreiten der Nierenerkrankung im Endstadium (ESRD) gekennzeichnet ist. Die drei klinischen Subtypen werden nach dem Alter des Auftretens der ESRD unterschieden: infantile, juvenile und spät beginnende Formen."},"es":{"name":"Nefronoptisis","definition":"Es una ciliopatía renal de origen genético, poco frecuente, caracterizada por una reducción de la capacidad renal para concentrar los solutos, nefritis tubulointersticial crónica, quistes renales ocacionales y progresión a enfermedad renal terminal (ERT). Los tres subtipos clínicos se caracterizan por la edad de aparición de la ERT, que incluye el inicio infantil, juvenil y tardío."},"it":{"name":"Nefronoftisi","definition":"La nefronoftisi (NPHP) è una ciliopatia renale genetica rara, caratterizzata da una ridotta capacità dei reni a concentrare i soluti, dalla nefrite tubulointerstiziale cronica, dalla malattia cistica renale che progredisce nella malattia renale terminale (ESRD). La NPHP è suddivisa in tre sottotipi clinici, a seconda dell'età d'esordio della ESRD, ovvero nefronoftisi neonatale, giovanile e ad esordio tardivo."},"nl":{"name":"Nefronoftise","definition":"Een zeldzame, genetische renale ciliopathie, gekenmerkt door verminderd vermogen van nieren om opgeloste stoffen te concentreren, chronische tubulo-interstitiële nefritis, occasionele aanwezigheid van cysten, en progressie tot terminaal nierfalen (ESRD). Drie klinische subtypes worden onderscheiden naargelang de aanvangsleeftijd van ESRD, mat name infantiele, juveniele en laat optredende vorm."},"pt":{"name":"Nefronoptise"},"pl":{"name":"Nefronoftyza","definition":"Rzadka, genetycznie uwarunkowana ciliopatia nerkowa, która charakteryzuje się zmniejszoną zdolnością nerek do zagęszczania substancji rozpuszczonych, przewlekłym kanalikowo-śródmiąższowym zapaleniem nerek, sporadyczną obecnością torbieli i progresją do schyłkowej niewydolności nerek. Trzy podtypy kliniczne różnią się wiekiem wystąpienia schyłkowej niewydolności nerek - wyróżnia się podtyp niemowlęcy, młodzieńczy i późny."},"cs":{"name":"Juvenilní nefronoftíza"},"uk":{"name":"Нефронофтіз","definition":"A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset."},"zh":{"name":"肾消耗病"},"tr":{"name":"Nefronofitiz"}},"xrefs":[{"source":"OMIM","code":"256100","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"602088","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604387","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606966","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611498","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613159","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613820","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613824","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614377","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615382","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615862","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617271","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":"E","icd_relation":"specific","validated":true,"icd11_uri":"158151813"},{"source":"MONDO","code":"0019005","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0687120","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156180,"name":"Retinal ciliopathy due to mutation in nephronophthisis gene","classifications":[156]}],"children":[{"orpha":93591,"name":"Infantile nephronophthisis","type":"Clinical subtype"},{"orpha":93592,"name":"Juvenile nephronophthisis","type":"Clinical subtype"},{"orpha":93589,"name":"Late-onset nephronophthisis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":93592,"name":"Juvenile nephronophthisis"}},{"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"],"via":{"orpha":93589,"name":"Late-onset nephronophthisis"}},{"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"],"via":{"orpha":93592,"name":"Juvenile nephronophthisis"}},{"symbol":"NPHP3","name":"nephrocystin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26184788[PMID]_18371931[PMID]","hgnc":"7907","ensembl":"ENSG00000113971","omim":"608002","loci":["3q22.1"],"via":{"orpha":93591,"name":"Infantile nephronophthisis"}},{"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"],"via":{"orpha":93592,"name":"Juvenile nephronophthisis"}},{"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"],"via":{"orpha":93591,"name":"Infantile nephronophthisis"}},{"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"],"via":{"orpha":93592,"name":"Juvenile nephronophthisis"}},{"symbol":"CEP83","name":"centrosomal protein 83","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24882706[PMID]","hgnc":"17966","ensembl":"ENSG00000173588","omim":"615847","loci":["12q22"],"via":{"orpha":93591,"name":"Infantile nephronophthisis"}},{"symbol":"INVS","name":"inversin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17870","ensembl":"ENSG00000119509","omim":"243305","loci":["9q31.1"],"via":{"orpha":93591,"name":"Infantile nephronophthisis"}},{"symbol":"NEK8","name":"NIMA related kinase 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18199800[PMID]","hgnc":"13387","ensembl":"ENSG00000160602","omim":"609799","loci":["17q11.2"],"via":{"orpha":93591,"name":"Infantile nephronophthisis"}},{"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"],"via":{"orpha":93592,"name":"Juvenile nephronophthisis"}},{"symbol":"NPHP3","name":"nephrocystin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7907","ensembl":"ENSG00000113971","omim":"608002","loci":["3q22.1"],"via":{"orpha":93589,"name":"Late-onset nephronophthisis"}},{"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"],"via":{"orpha":93592,"name":"Juvenile nephronophthisis"}},{"symbol":"TTC21B","name":"tetratricopeptide repeat domain 21B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21258341[PMID]","hgnc":"25660","ensembl":"ENSG00000123607","omim":"612014","loci":["2q24.3"],"via":{"orpha":93591,"name":"Infantile nephronophthisis"}},{"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"],"via":{"orpha":93592,"name":"Juvenile nephronophthisis"}},{"symbol":"XPNPEP3","name":"X-prolyl aminopeptidase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20179356[PMID]","hgnc":"28052","ensembl":"ENSG00000196236","omim":"613553","loci":["22q13.2"],"via":{"orpha":93589,"name":"Late-onset nephronophthisis"}},{"symbol":"ZNF423","name":"zinc finger protein 423","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22863007[PMID]","hgnc":"16762","ensembl":"ENSG00000102935","omim":"604557","loci":["16q12.1"],"via":{"orpha":93591,"name":"Infantile nephronophthisis"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"Finland","status":"Validated","source":"10196704[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}