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

  • X-linked dominant — is mode of inheritance in which a gene on the X chromosome is dominant. [ [http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/xdomin.html X linked Dominant: Incontinentia pigmenti Lucile Packard Children s Hospital] ] Females can be… …   Wikipedia

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