{"orpha":93622,"name":"Dent disease type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93622/","orphanet_url":"https://www.orpha.net/en/disease/detail/93622","names":{"fr":{"name":"Maladie de Dent type 1","definition":"Néphropathie tubulaire rare monogénique, liée à l'X, caractérisée par des signes de dysfonctionnement complexe du tubule proximal en association avec une protéinurie de faible poids moléculaire, une hypercalciurie, une néphrolithiase, une néphrocalcinose et une insuffisance rénale progressive. Aucune atteinte extrarénale n'est rapportée."},"de":{"name":"Dent-Krankheit Typ 1","definition":"Eine seltene X-chromosomale monogene Nierentubulopathie, die durch eine komplexe proximale Tubulusdysfunktion mit niedermolekularer Proteinurie, Hyperkalziurie, Nephrolithiasis, Nephrokalzinose und progressivem Nierenversagen gekennzeichnet ist. Eine extra-renale Beteiligung ist nicht vorhanden."},"es":{"name":"Enfermedad de Dent tipo 1","definition":"Es una enfermedad tubular renal, monogénica ligada al cromosoma X, caracterizada por manifestaciones de disfunción compleja del túbulo proximal con proteinuria de bajo peso molecular (BPM), hipercalciuria, nefrolitiasis, nefrocalcinosis e insuficiencia renal progresiva. No se produce afectación extrarrenal."},"it":{"name":"Malattia di Dent tipo 1","definition":"Si tratta di una malattia tubulare renale monogenica rara, legata all'X, caratterizzata dai sintomi della disfunzione complessa dei tubuli prossimali associata alla proteinuria a basso peso molecolare (BPM), ad ipercalciuria, a nefrolitiasi, a nefrocalcinosi e all'insufficienza renale progressiva, in assenza di coinvolgimento extrarenale."},"nl":{"name":"Ziekte van Dent type 1","definition":"Een zeldzame X-gebonden monogene aandoening van niertubuli, gekenmerkt door manifestaties van complexe disfunctie van proximale tubulus met proteïnurie van eiwitten met laag moleculair gewicht (LMW), hypercalciurie, nefrolithiasis, nefrocalcinose, en progressief nierfalen. Extrarenale betrokkenheid is afwezig."},"pt":{"name":"Doença Dent tipo 1","definition":"Doença tubular renal monogénica rara ligada ao cromossoma X, caracterizada por manifestações de disfunção complexa do túbulo contornado proximal com proteinúria de baixo peso molecular (LMW), hipercalciúria, nefrolitíase, nefrocalcinose e insuficiência renal progressiva. Não ocorre envolvimento extra-renal."},"pl":{"name":"Choroba Denta typu 1","synonyms":["Kamica nerkowa typu 1"],"definition":"Choroba Denta typu 1 to postać choroby Denta (sprawdź ten termin) z dominującymi objawami nerkowymi."},"cs":{"name":"Nefrolitiáza, typ 1","synonyms":["Dentova choroba, typ 1"]},"uk":{"name":"Хвороба Дента, тип 1","definition":"A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent."},"zh":{"name":"Dent病1型","synonyms":["肾结石1型"],"definition":"Dent病1型是一种以肾脏表现为主的Dent病。"},"tr":{"name":"Dent hastalığı tip 1","synonyms":["Nefrolitiyazis tip 1"]}},"xrefs":[{"source":"OMIM","code":"300009","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300554","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"308990","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"310468","qualifier":"BTNT","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":"1984074789"},{"source":"MONDO","code":"0010225","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848336","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98117,"name":"OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":1652,"name":"Dent disease","classifications":[147,156,188,193,199,233]}],"children":[],"genes":[{"symbol":"CLCN5","name":"Cl-/H+ antiporter 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22876375[PMID]_21305656[PMID]_18540256[PMID]","hgnc":"2023","ensembl":"ENSG00000171365","omim":"300008","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}