{"orpha":2197,"name":"Idiopathic hypercalciuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2197/","orphanet_url":"https://www.orpha.net/en/disease/detail/2197","names":{"fr":{"name":"Hypercalciurie idiopathique","definition":"Maladie rénale rare, caractérisée par une excrétion excessive et persistante de calcium urinaire en l'absence d'une maladie systémique sous-jacente et d'une hypercalcémie. La maladie entraîne un risque accru de formation de calculs rénaux et de néphrocalcinose, ainsi qu'une diminution de la densité minérale osseuse et un risque accru de fractures chez certains patients."},"de":{"name":"Hyperkalziurie, idiopathische","definition":"Eine seltene Nierenerkrankung, die durch eine anhaltende übermäßige Kalziumausscheidung im Urin gekennzeichnet ist, ohne dass eine systemische Grunderkrankung und Hyperkalzämie vorliegt. Die Erkrankung führt zu einem erhöhten Risiko für die Bildung von Nierensteinen und Nephrokalzinose sowie zu einer verminderten Knochenmineraldichte mit erhöhter Inzidenz von Frakturen bei einigen Patienten."},"es":{"name":"Hipercalciuria idiopática","definition":"Es una enfermedad renal poco frecuente caracterizada por un exceso persistente de la excreción urinaria de calcio en ausencia de una enfermedad sistémica subyacente y de hipercalcemia. El trastorno resulta en un mayor riesgo de formación de cálculos renales y de nefrocalcinosis, así como en una disminución de la densidad mineral ósea que se traduce en una mayor incidencia de fracturas en algunos pacientes."},"it":{"name":"Ipercalciuria idiopatica","definition":"Si tratta di una nefropatia rara, caratterizzata da livelli persistentemente elevati di calcio nelle urine, in assenza di malattie sistemiche e di ipercalcemia. I pazienti sono predisposti alla formazione di calcoli renali e alla nefrocalcinosi. La malattia si associa alla riduzione della densità minerale ossea, con una maggiore incidenza delle fratture in alcuni pazienti."},"nl":{"name":"Idiopathische hypercalciurie","definition":"Een zeldzame aandoening van nier, gekenmerkt door aanhoudende excessieve excretie van calcium in urine, in afwezigheid van een onderliggende systemische ziekte en hypercalciëmie. De aandoening leidt tot een verhoogd risico op vorming van nierstenen en nefrocalcinose, alsook verminderde botmineraaldichtheid met verhoogde incidentie van fracturen bij sommige patiënten."},"pt":{"name":"Hipercalciúria idiopática"},"pl":{"name":"Idiopatyczna hiperkalciuria"},"cs":{"name":"Idiopatická hyperkalciurie"},"uk":{"name":"Ідіопатична гіперкальціурія","definition":"A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients."},"zh":{"name":"特发性高钙尿症"},"tr":{"name":"İdiyopatik hiperkalsiüri"}},"xrefs":[{"source":"OMIM","code":"143870","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607258","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"MF98.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1256480681"},{"source":"UMLS","code":"C0543800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"ADCY10","name":"adenylate cyclase 10","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"11932268[PMID]","hgnc":"21285","ensembl":"ENSG00000143199","omim":"605205","loci":["1q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-11-09","source":"11932268[PMID]_759893[PMID]_2971139[PMID]_3183056[PMID]_9637423[PMID]","terms":[{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012637","label":"Renal calcium wasting","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008672","label":"Calcium oxalate nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004363","label":"Abnormal circulating calcium concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003529","label":"Parathormone-independent increased renal tubular calcium reabsorption","frequency":"Excluded (0%)","criteria":null}]}}