{"orpha":89937,"name":"Autosomal dominant hypophosphatemic rickets","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADHR","Autosomal dominant hypophosphatemia"],"definition":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-89937/","orphanet_url":"https://www.orpha.net/en/disease/detail/89937","names":{"fr":{"name":"Rachitisme hypophosphatémique autosomique dominant","synonyms":["ADHR","Hypophosphatémie autosomique dominante"],"definition":"Fuite rénale rare et héréditaire de phosphate caractérisée par une hypophosphatémie, un rachitisme et/ou une ostéomalacie."},"de":{"name":"Rachitis, hypophosphatämische, autosomal-dominante","synonyms":["ADHR","Hypophosphatämie, autosomal-dominante"],"definition":"Eine seltene hereditäre Störung die mit renalen Phosphatverlusten, Hypophosphatämie, Rachitis und/oder Osteomalazie einhergeht."},"es":{"name":"Raquitismo hipofosfatémico autosómico dominante","synonyms":["ADHR","Hipofosfatemia autosómica dominante"],"definition":"Es un trastorno renal de pérdida de fosfato poco frecuente de origen genético caracterizado por hipofosfatemia, raquitismo y/o osteomalacia."},"it":{"name":"Rachitismo ipofosfatemico autosomico dominante","synonyms":["ADHR","Ipofosfatemia autosomica dominante"]},"nl":{"name":"Autosomaal dominante hypofosfatemische rachitis","synonyms":["ADHR","Autosomaal dominante hypofosfatemie"],"definition":"Een zeldzame, erfelijke aandoening van nier met fosfaatverlies, gekenmerkt door hypofosfatemie, rachitis en/of osteomalacie."},"pt":{"name":"Raquitismo hipofosfatémico autossómico dominante","definition":"Doença renal hereditária rara de perda de fosfato caracterizada por hipofosfatemia, raquitismo e/ou osteomalácia."},"pl":{"name":"Autosomalna dominująca krzywica hipofosfatemiczna","synonyms":["ADHR","Autosomalna dominująca hipofosfatemia"],"definition":"Rzadka dziedziczna choroba związana z nerkową utratą fosforanów, charakteryzująca się hipofosfatemią, krzywicą i/lub osteomalacją."},"cs":{"name":"Autozomálně dominantní hypofosfatemická křivice","synonyms":["ADHR","Autozomálně dominantní hypofosfatémie"]},"uk":{"name":"Аутосомно-домінантний гіпофосфатемічний рахіт","synonyms":["ADHR","Аутосомно-домінантна гіпофосфатемія"],"definition":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."},"zh":{"name":"常染色体显性遗传低磷性佝偻病","synonyms":["常染色体显性遗传性低磷血症"]},"tr":{"name":"Otozomal dominant hipofosfatemik raşitizm","synonyms":["ADHR","Otozomal baskın hipofosfatemi"]}},"xrefs":[{"source":"OMIM","code":"193100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2098026628"},{"source":"MONDO","code":"0008660","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342642","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":437,"name":"Hypophosphatemic rickets","classifications":[147,156,188,193,199]}],"children":[],"genes":[{"symbol":"FGF23","name":"fibroblast growth factor 23","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"11062477[PMID]_19655082[PMID]","hgnc":"3680","ensembl":"ENSG00000118972","omim":"605380","loci":["12p13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-18","source":"31486862[PMID]_31756522[PMID]_31486862[PMID]","terms":[{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030757","label":"Tooth abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020110","label":"Bone fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very rare (<4-1%)","criteria":null}]}}