familial hypophosphatemia

familial hypophosphatemia
familial hypophosphatemic rickets; the term is sometimes used specifically for X-linked hypophosphatemia.

Medical dictionary. 2011.

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  • hypophosphatemia — Low phosphate levels in blood. It usually occurs in conjunction with other metabolic disturbances, disrupting energy metabolism and impairing delivery of oxygen to tissues. Acute hypophosphatemia causes neurological symptoms (weakness, tremors,… …   Universalium

  • familial hypophosphatemic rickets — any of several inherited disorders of proximal renal tubular function causing phosphate loss, hypophosphatemia, and skeletal deformities, including rickets and osteomalacia. The group is genetically heterogeneous and clinically variable. See X… …   Medical dictionary

  • 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… …   Medical dictionary

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  • bone disease — Introduction  any of the diseases or injuries that affect human bones (bone). Diseases and injuries of bones are major causes of abnormalities of the human skeletal system (skeletal system, human). Although physical injury, causing fracture,… …   Universalium

  • rickets — /rik its/, n. Pathol. a disease of childhood, characterized by softening of the bones as a result of inadequate intake of vitamin D and insufficient exposure to sunlight, also associated with impaired calcium and phosphorus metabolism. [1635 45;… …   Universalium

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