{"orpha":93623,"name":"Dent disease type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93623/","orphanet_url":"https://www.orpha.net/en/disease/detail/93623","names":{"fr":{"name":"Maladie de Dent type 2","definition":"Néphropathie tubulaire rare d'origine génétique, caractérisée par des signes de dysfonctionnement du tubule proximal en association avec une protéinurie de faible poids moléculaire, une hypercalciurie, une néphrolithiase, une néphrocalcinose et une insuffisance rénale progressive. Les atteintes extrarénales sont fréquentes, mais elles peuvent être légères et passer inaperçues."},"de":{"name":"Dent-Krankheit Typ 2","definition":"Eine genetisch bedingte tubuläre Nierenerkrankung, die sich durch eine proximale Tubulusdysfunktion mit niedermolekularer Proteinurie, Hyperkalziurie, Nephrolithiasis, Nephrokalzinose und progressivem Nierenversagen auszeichnet. Eine Beteiligung der Nebennieren ist häufig, kann aber mild sein und nicht erkannt werden."},"es":{"name":"Enfermedad de Dent tipo 2","definition":"Es una enfermedad tubular renal, de origen genético y poco frecuente, caracterizada por manifestaciones de disfunción del túbulo proximal con proteinuria de bajo peso molecular (BPM), hipercalciuria, nefrolitiasis, nefrocalcinosis e insuficiencia renal progresiva. La afectación extrarrenal es frecuente, pero puede ser leve y pasar desapercibida."},"it":{"name":"Malattia di Dent tipo 2","definition":"Si tratta di una malattia tubulare renale rara, di origine genetica, caratterizzata dai sintomi della disfunzione dei tubuli prossimali associati a proteinuria a basso peso molecolare (BPM), ipercalciuria, nefrolitiasi, nefrocalcinosi e insufficienza renale progressiva. È comune il coinvolgimento extrarenale, che può essere lieve e, di conseguenza, passare inosservato."},"nl":{"name":"Ziekte van Dent type 2","definition":"Een zeldzame, genetische aandoening van niertubuli, gekenmerkt door manifestaties van disfunctie van proximale tubulus met proteïnurie van eiwitten met laag moleculair gewicht (LMW), hypercalciurie, nefrolithiasis, nefrocalcinose, en progressief nierfalen. Extrarenale betrokkenheid komt vaak voor, maar kan mild en onherkenbaar zijn."},"pt":{"name":"Doença Dent tipo 2","definition":"Doença tubular renal genética rara, caracterizada por manifestações de disfunção do túbulo contornado proximal com proteinúria de baixo peso molecular (LMW), hipercalciúria, nefrolitíase, nefrocalcinose e insuficiência renal progressiva. O envolvimento extra-renal é frequente, mas pode ser ligeiro e não reconhecível."},"pl":{"name":"Choroba Denta typu 2","synonyms":["Kamica nerkowa typu 2"],"definition":"Choroba Denta typu 2 to postać choroby Denta, w której pacjenci mają objawy choroby Denta typu 1 z towarzyszącymi objawami pozanerkowymi."},"cs":{"name":"Nefrolitiáza, typ 2","synonyms":["Dentova choroba, typ 2"]},"uk":{"name":"Хвороба Дента, тип 2","definition":"A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized."},"zh":{"name":"Dent病2型","synonyms":["肾结石2型"],"definition":"Dent病2型是Dent病的一种，患者有Dent病1型的表现，但同时伴有肾外表现。"},"tr":{"name":"Dent hastalığı tip 2","synonyms":["Nefrolitiyazis tip 2"]}},"xrefs":[{"source":"OMIM","code":"300555","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.42","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2053330521"},{"source":"MONDO","code":"0010359","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845167","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":1652,"name":"Dent disease","classifications":[147,156,188,193,199,233]}],"children":[],"genes":[{"symbol":"OCRL","name":"OCRL inositol polyphosphate-5-phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22876375[PMID]","hgnc":"8108","ensembl":"ENSG00000122126","omim":"300535","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}