{"orpha":244305,"name":"Dominant hypophosphatemia with nephrolithiasis or osteoporosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-244305/","orphanet_url":"https://www.orpha.net/en/disease/detail/244305","names":{"fr":{"name":"Hypophosphatémie dominante avec néphrolithiase ou ostéoporose","definition":"Maladie tubulaire rénale génétique rare caractérisée par une perte rénale de phosphates au niveau des tubules proximaux, entraînant une hypercalciurie, une lithiase urinaire récidivante et/ou une ostéoporose."},"de":{"name":"Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose","definition":"Seltene, genetisch bedingte renale tubuläre Nierenerkrankung, die durch Phosphatverlust im proximalen Tubulus gekennzeichnet ist und zu Hyperkalziurie und rezidivierender Urolithiasis und/oder Osteoporose führt."},"es":{"name":"Hipofosfatemia dominante con nefrolitiasis u osteoporosis","definition":"Es una enfermedad renal tubular, poco frecuente y de origen genético, caracterizada por pérdida de fosfato en el túbulo proximal que resulta en hipercalciuria y urolitiasis recurrente y/o osteoporosis."},"it":{"name":"Ipofosfatemia dominante con nefrolitiasi o osteoporosi","definition":"Si tratta di una malattia genetica rara dei tubuli renali, caratterizzata da perdita di fosfati attraverso i tubuli prossimali, che esita nell'ipercalciuria e nell'urolitiasi ricorrente e/o nell'osteoporosi."},"nl":{"name":"Dominante hypofosfatemie met nefrolithiase of osteoporose","definition":"Een zeldzame, genetische aandoening van niertubulus, gekarakteriseerd door fosfaatverlies in de proximale tubulus, wat leidt tot hypercalciurie en recidiverende urolithiase en/of osteoporose."},"pt":{"name":"Hipofosfatemia dominante com nefrolitíase ou osteoporose"},"pl":{"name":"Dominująca hipofosfatemia z kamicą nerkową lub osteoporozą","definition":"*Dominująca hipofosfatemia z kamicą nerkową lub osteoporozą jest rzadką, genetycznie uwarunkowaną chorobą kanalików nerkowych, która charakteryzuje się hipofosfatemią, zmniejszoną resorpcją fosforanów w nerkach i hiperkalciurią prowadzącą do kamicy nerkowej i/lub wapnicy nerek i osteoporozy, przy prawidłowych/zwiększonych poziomach kalcytriolu w surowicy."},"cs":{"name":"Dominantní hypofosfatémie s nefrolitiázou nebo osteoporózou"},"uk":{"name":"Домінантна гіпофосфатемія з нефролітіазом або остеопорозом","definition":"A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis."},"zh":{"name":"低磷酸盐血症为主伴肾结石或骨质疏松症","definition":"一种罕见的遗传性肾小管疾病，其特征是近端肾小管中的磷酸盐丢失，导致高钙尿症和复发性尿石症和/或骨质疏松症。"},"tr":{"name":"Nefrolitiyazis veya osteoporoz ile seyreden dominant hipofosfatemi"}},"xrefs":[{"source":"OMIM","code":"612286","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612287","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.48","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191009","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":[],"genes":[{"symbol":"NHERF1","name":"NHERF family PDZ scaffold protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18784102[PMID]","hgnc":"11075","ensembl":"ENSG00000109062","omim":"604990","loci":["17q25.1"]},{"symbol":"SLC34A1","name":"solute carrier family 34 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12324554[PMID]","hgnc":"11019","ensembl":"ENSG00000131183","omim":"182309","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"12324554[PMID]_18784102[PMID]_26787776[PMID]_29924459[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29924459[PMID]"}],"phenotypes":null}