{"orpha":1652,"name":"Dent disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dent syndrome","Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis","Renal Fanconi syndrome with nephrocalcinosis and renal stones","X-linked recessive hypercalciuric hypophosphatemic rickets","X-linked recessive nephrolithiasis"],"definition":"A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with <i>CLCN5</i> variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with <i>OCRL1</i> variants.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1652/","orphanet_url":"https://www.orpha.net/en/disease/detail/1652","names":{"fr":{"name":"Maladie de Dent","synonyms":["Néphrolithiase liée à l'X","Protéinurie de faible poids moléculaire avec hypercalciurie et néphrocalcinose","Syndrome de Dent","Syndrome de Fanconi rénal-néphrocalcinose-calculs rénaux"],"definition":"Néphropathie tubulaire rare, liée à l'X, caractérisée par un dysfonctionnement primaire du tube proximal et une protéinurie de faible poids moléculaire. Parmi les autres manifestations rénales fréquentes figurent une hypercalciurie, une néphrolithiase/néphrocalcinose et une insuffisance rénale progressive, entre autres. Il existe deux sous-types : la maladie de Dent de type 1, caractérisée par un phénotype rénal isolé dû à des variants du gène <i>CLCN5</i> ; et la maladie de Dent de type 2 qui est souvent caractérisée, outre les manifestations du type 1, par des manifestations extra-rénales dues à des variants de <i>OCRL1</i>."},"de":{"name":"Dent-Krankheit","synonyms":["Dent-Syndrom","Nephrolithiasis, X-chromosomal-rezessive","Niedermolekulare Proteinurie mit Hyperkalziurie und Nephrokalzinose","Rachitis, hypokalziurische hypophosphatämische, X-chromosomal-rezessive","Renales Fanconi-Syndrom mit Nephrokalzinose und Nierensteinen"],"definition":"Eine seltene X-chromosomale tubuläre Nierenerkrankung, die durch eine primäre proximale Tubulusdysfunktion mit niedermolekularer Proteinurie gekennzeichnet ist. Zu den weiteren Nierenmerkmalen gehören u. a. Hyperkalziurie, Nephrolithiasis/Nephrokalzinose und progressives Nierenversagen. Es werden zwei Subtypen unterschieden: Dent-Krankheit Typ 1, die durch einen isolierten Nierenphänotyp in Verbindung mit pathogenen <i>CLCN5</i>-Varianten gekennzeichnet ist, und Dent-Krankheit Typ 2, die häufig durch zusätzliche Nierenmanifestationen in Verbindung mit pathogenen <i>OCRL1</i>-Varianten gekennzeichnet ist."},"es":{"name":"Enfermedad de Dent","synonyms":["Nefrolitiasis recesiva ligada al cromosoma X","Proteinuria de bajo peso molecular con hipercalciuria y nefrocalcinosis","Raquitismo hipofosfatémico recesivo ligado al cromosoma X con hipercalciuria","Síndrome de Dent","Síndrome de Fanconi renal con nefrocalcinosis y cálculos renales"],"definition":"Es una rara enfermedad tubular renal ligada al cromosoma X caracterizada por una disfunción primaria del túbulo proximal con proteinuria de bajo peso molecular. Otras características renales frecuentemente descritas incluyen hipercalciuria, nefrolitiasis/nefrocalcinosis e insuficiencia renal progresiva, entre otras. Hay dos subtipos: enfermedad de Dent tipo 1, caracterizada por un fenotipo renal aislado y asociada a variantes de <i>CLCN5</i>, y enfermedad de Dent tipo 2, a menudo caracterizada por la presencia de manifestaciones extrarrenales y asociadoa a variantes de <i>OCRL1</i>."},"it":{"name":"Malattia di Dent","synonyms":["Nefrolitiasi recessiva legata all'X","Proteinuria da basso peso molecolare con ipercalciuria e nefrocalcinosi","Rachitismo ipofosfatemico ipercalciurico recessivo legato all'X","Sindrome di Dent","Sindrome renale di Fanconi con nefrocalcinosi e calcolosi renale"]},"nl":{"name":"Ziekte van Dent","synonyms":["Laag-molecuulgewicht proteïnurie met hypercalciurie en nefrocalcinose","Renaal syndroom van Fanconi met nefrocalcinose en nierstenen","Syndroom van Dent","X-gebonden recessieve hypercalciurische hypofosfatemische rachitis","X-gebonden recessieve nefrolithiase"],"definition":"Een zeldzame X-gebonden aandoening van niertubulus, gekenmerkt door een primaire disfunctie van proximale tubulus met proteïnurie van eiwitten met laag moleculair gewicht. Overige kenmerken van nier zijn onder meer hypercalciurie, nefrolithiasis/nefrocalcinose, en progressief nierfalen. Er zijn twee subtypes: ziekte van Dent type 1, gekenmerkt door een geïsoleerd renaal fenotype in associatie met varianten van <i>CLCN5</i>, ziekte van Dent type 2, vaak gekenmerkt door bijkomende extrarenale manifestaties in associatie met varianten van <i>OCRL1</i>."},"pt":{"name":"Doença de Dent","synonyms":["Nefrolitíase hipercalciúrica ligada ao X"],"definition":"Doença tubular renal rara, ligada ao cromossoma X, caracterizada por disfunção primária do túbulo proximal com proteinúria de baixo peso molecular. Outras características renais geralmente incluem hipercalciúria, nefrolitíase/nefrocalcinose e insuficiência renal progressiva, entre outras. Existem dois subtipos: doença Dent tipo 1, caracterizada por um fenótipo renal isolado associado a variantes em CLCN5, e doença Dent tipo 2, frequentemente caracterizada pela presença adicional de manifestações renais extras e associado a variantes em OCRL1."},"pl":{"name":"Choroba Denta","synonyms":["Białkomocz drobnocząsteczkowy z hiperkalciurią i nefrokalcynozą","Nerkowy zespół Fanconiego z nefrokalcynozą i kamieniami nerkowymi","Recesywna kamica nerkowa sprzężona z chromosomem X","Recesywna krzywica hipofosfatemiczna z hiperkalciurią sprzężona z chromosomem X","Zespół Denta"],"definition":"Rzadka choroba kanalików nerkowych sprzężona z chromosomem X, która charakteryzuje się pierwotną dysfunkcją kanalików proksymalnych, z białkomoczem o małej masie cząsteczkowej. Inne częste objawy ze strony nerek obejmują między innymi hiperkalciurię, kamicę/wapnicę nerek oraz postępującą niewydolność nerek. Istnieją dwa podtypy: choroba Denta typu 1 charakteryzująca się izolowanym fenotypem nerkowym, związana z wariantami w genie CLCN5 oraz choroba Dent typu 2, często charakteryzująca się dodatkowymi objawami pozanerkowymi, związana z wariantami w genie OCRL1 ."},"cs":{"name":"Dentova choroba","synonyms":["Nízkomolekulární proteinurie s hyperkalciurií a nefrokalcinózou","Renální Fanconiho syndrom s nefrokalcinózou a ledvinovými kameny","X-vázaná recesivní nefrolitiáza","Dentův syndrom","X-vázaná recesivní hyperkalciurická hypofosfatemická křivice"]},"uk":{"name":"Хвороба Дента","synonyms":["Синдром Дента","Низькомолекулярна протеїнурія з гіперкальціурією та нефрокальцинозом","Нирковий синдром Фанконі з нефрокальцинозом та нирковими каменями","Х-зчеплений рецесивний гіперкальціуричний гіпофосфатемічний рахіт","Х-зчеплений рецесивний нефролітіаз"],"definition":"A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with <i>CLCN5</i> variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with <i>OCRL1</i> variants."},"zh":{"name":"Dent病","synonyms":["低分子蛋白尿伴高钙尿和肾钙质沉着"]},"tr":{"name":"Dent hastalığı","synonyms":["Dent sendromu","X'e bağlı Çekinik nefrolitiyazis","X'e bağlı Çekinik hiperkalsiürik hipofosfatemik raşitizm","Nefrokalsinoz ve böbrek taşlar ile seyreden renal Fanconi sendromu","Hiperkalsiüri ve nefrokalsinoz ile seyreden düşük moleküler ağırlıklı proteinüri"]}},"xrefs":[{"source":"OMIM","code":"300009","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300554","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300555","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":"1762998355"},{"source":"MONDO","code":"0015612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D057973","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0878681","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13105","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":437,"name":"Hypophosphatemic rickets","classifications":[147,156,188,193,199]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[{"orpha":93622,"name":"Dent disease type 1","type":"Clinical subtype"},{"orpha":93623,"name":"Dent disease type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":93622,"name":"Dent disease type 1"}},{"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"],"via":{"orpha":93623,"name":"Dent disease type 2"}}],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"20946626[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-18","source":"1908057[PMID]_7753256[PMID]_15627218[PMID]_7915957[PMID]_3316563[PMID]_12815097[PMID]_11099045[PMID]_1372109[PMID]_10202170[PMID]_15558518[PMID]_9452994[PMID]_20946626[PMID]","terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031415","label":"High serum calcitriol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003149","label":"Hyperuricosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003126","label":"Low-molecular-weight proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005574","label":"Non-acidotic proximal tubulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000114","label":"Proximal tubulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008732","label":"Renal hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000117","label":"Renal phosphate wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000092","label":"Renal tubular atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005576","label":"Tubulointerstitial fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003013","label":"Bulging epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010580","label":"Enlarged epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003029","label":"Enlargement of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003020","label":"Enlargement of the wrists","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002752","label":"Sparse bone trabeculae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Occasional (29-5%)","criteria":null}]}}