adhesion related kinase |
AdIF |
chorionic gonadotropin beta polypeptide 5 |
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[autosomal-dominant hypophosphatemic rickets] Mutations in the gene encoding FGF23 have been shown to be responsible for this autosomal dominant trait, which is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal calcitriol levels (ADHR Consortium, 2000; White et al, 2001). Defects in FGF23 may be a rare cause also of HFTC [hyperphosphatemic familial tumoral calcinosis] or PHPT or PHPTC [primary hyperphosphatemic tumoral calcinosis], a severe autosomal recessive metabolic disorder characterized by hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues (Benet-Pagès et al, 2005)
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