X-linked hypophosphatemia


X-linked hypophosphatemia
a form of familial hypophosphatemic rickets, with X-linked dominant inheritance and caused by mutation at locus Xp22.2-p22.1; the bone disease is due to defects in the resorption of phosphate by the proximal renal tubule and in the regulation of renal 25-hydroxyvitamin D activation, and to decreased intestinal absorption of calcium with resulting hyperparathyroidism. Called also X-linked hypophosphatemic rickets.

Medical dictionary. 2011.

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  • X-linked hypophosphatemia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 6513 ICD10 = ICD10|E|83|3|e|70 ICD9 = ICD9|275.3 ICDO = OMIM = 307800 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 1128 MeshName = MeshNumber = MeshID = D007015 X linked… …   Wikipedia

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  • familial hypophosphatemia — familial hypophosphatemic rickets; the term is sometimes used specifically for X linked hypophosphatemia …   Medical dictionary

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  • XLH — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 6513 ICD10 = ICD9 = ICDO = OMIM = 307800 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D053098X linked Hypophosphatemia (XLH) is a genetic disease characterized by mutation in the… …   Wikipedia