Autosomal dominant hypophosphatemic rickets — (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects… … Wikipedia
autosomal dominant hypophosphatemic rickets — (ADHR), autosomal dominant vitamin D–resistant rickets a form of familial hypophosphatemic rickets with autosomal dominant inheritance and caused by mutation in the FGF23 gene (locus: 12p13.3), which encodes a member of the fibroblast growth… … Medical dictionary
hereditary hypophosphatemic rickets with hypercalciuria — a form of familial hypophosphatemic rickets caused by mutation in the SLC34A3 gene (locus: 9q34), which encodes a cotransporter important in maintenance of inorganic phosphate concentration at the kidney; hypophosphatemia is accompanied by… … Medical dictionary
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 hypophosphatemic rickets — X linked hypophosphatemia … Medical dictionary
Rickets — A disease of infants and children that disturbs normal bone formation (ossification). Rickets is a failure to mineralize bone. This softens bone (producing osteomalacia) and permits marked bending and distortion of bones. Up through the first… … Medical dictionary
Rickets, hypophosphatemic — A rare type of rickets in which phosphate collects abnormally in the kidneys. Treatment is with oral phosphate and vitamin D supplements … Medical dictionary
hypophosphatemic bone disease — an autosomal dominant disorder clinically resembling a mild form of X linked hypophosphatemia and similarly due to a defect in renal tubular function, but usually showing osteomalacia without radiographic evidence of rickets and responding to… … Medical dictionary
vitamin D–resistant rickets — 1. X linked hypophosphatemia. 2. any of a group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets … Medical dictionary
familial hypophosphatemic osteomalacia — osteomalacia occurring in familial hypophosphatemic rickets … Medical dictionary
