{"orpha":93591,"name":"Infantile nephronophthisis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal recessive infantile NPHP","Autosomal recessive infantile nephronophthisis"],"definition":"A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93591/","orphanet_url":"https://www.orpha.net/en/disease/detail/93591","names":{"fr":{"name":"Néphronophtise infantile","synonyms":["Néphronophtise infantile autosomique récessive"],"definition":"Variante clinique rare de la néphronophtise héréditaire caractérisée par un défaut de concentration des solutés par les reins, une néphropathie tubulo-interstitielle chronique, une maladie kystique rénale évoluant vers l'insuffisance rénale terminale (IRT) avant l'âge de 3 ans."},"de":{"name":"Nephronophthise, infantile Form","synonyms":["Autosomal-rezessive infantile NPHP","Autosomal-rezessive infantile Nephronophthise"],"definition":"Eine seltene klinische Variante der hereditären Nephronophthise, die durch eine verminderte renale Konzentrationsleistung, eine chronische tubulointerstitielle Nephritis, eine zystische Nierenerkrankung und ein Fortschreiten der Nierenerkrankung im Endstadium (ESRD) vor dem Alter von 3 Jahren gekennzeichnet ist."},"es":{"name":"Nefronoptisis infantil","synonyms":["NPHP infantil autosómica recesiva","Nefronoptisis infantil autosómica recesiva"],"definition":"Es una variante clínica poco frecuente de nefronoptisis hereditaria caracterizada por una capacidad de concentración renal reducida, nefritis tubulointersticial crónica, enfermedad renal quística y progresión a enfermedad renal terminal (ERT) antes de los 3 años de edad."},"it":{"name":"Nefronoftisi infantile","synonyms":["NPHP infantile autosomica recessiva","Nefronoftisi infantile autosomia recessiva"],"definition":"La nefronoftisi infantile è una variante clinica rara della nefronoftisi ereditaria, caratterizzata da una ridotta capacità di concentrazione da parte del rene, nefrite tubulointerstiziale cronica, malattia renale cistica e progressione verso la malattia renale terminale (ESRD) prima dei tre anni di età."},"nl":{"name":"Infantiele nefronoftise","synonyms":["Autosomaal recessieve infantiele NPHP","Autosomaal recessieve infantiele nefronoftise"],"definition":"Een zeldzame klinische variant van hereditaire nefronoftise, gekarakteriseerd door gereduceerd concentratievermogen van nier, chronische tubulo-interstitiële nefritis, cystische nierziekte, en progressie tot terminaal nierfalen (ESRD) voor de leeftijd van 3 jaar."},"pt":{"name":"Nefronoptise da infância","synonyms":["Doença renal quística medular da infância autossómica recessiva"]},"pl":{"name":"Nefronoftyza dziecięca","synonyms":["Autosomalna recesywna dziecięca NPHP","Autosomalna recesywna nefronoftyza dziecięca"]},"cs":{"name":"Dětská forma nefronoftízy","synonyms":["Autozomálně recesivní dětská forma NPHP","Autozomálně recesivní dětská nefronoftíza"]},"uk":{"name":"Дитячий нефронофтіз","synonyms":["Аутосомно-рецесивний дитячий нефронофтіз","Аутосомно-рецесивна інфантильна НПНП"],"definition":"A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age."},"zh":{"name":"婴儿型肾结核","synonyms":["常染色体隐性遗传性婴儿型肾结核"]},"tr":{"name":"İnfantil nefronoftiz","synonyms":["Otozomal çekinik infantil NPHP","Otozomal çekinik infantil nefronofitizis"]}},"xrefs":[{"source":"OMIM","code":"602088","qualifier":"BTNT","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":"attributed","validated":true},{"source":"MONDO","code":"0011190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865872","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":"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"]},{"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":"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"]},{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"European Rare Kidney Diseases Reference Network[OTHER]"}],"phenotypes":null}