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Genes (10)
Species: human : 10 | |
Human | FGF23 | 8074 | fibroblast growth factor 23 | FGF23 levels were variably elevated in subjects with hypophosphatemia of unknown cause, one of which had tumor-induced osteomalacia (TIO). Fibroblast growth factor (FGF)-23 was identified as a causative factor of tumor-induced osteomalacia and also as a responsible gene for autosomal dominant hypophosphatemic rickets. Genetic studies of autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia (XLH) identified the phosphaturic hormone FGF23 and the membrane metalloprotease PHEX, and investigations of tumor-induced osteomalacia (TIO) discovered the extracellular matrix protein MEPE. Recent advances in the understanding of these diseases include discovery of mutations in the genes encoding human phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and fibroblast growth factor 23 (FGF-23) and the finding of overproduction of FGF-23 and other proteins including matrix extracellular phosphoglycoprotein (MEPE) and frizzled-related protein 4 (FRP-4) in tumor-induced osteomalacia. Recent studies on tumor-induced osteomalacia suggested that phosphatonin was potentially identical to fibroblast growth factor (FGF)-23. SUMMARY: In tumor-induced osteomalacia, excessive production of factors such as FGF 23 and frizzled-related protein-4 is associated with inability of endogenous proteolytic enzymes to degrade these individual substances, with resultant hyperphosphaturia, hypophosphatemia, and rickets. Fibroblast growth factor-23 is the phosphaturic factor in tumor-induced osteomalacia and may be phosphatonin. FGF-23 is involved in the pathogenesis of two similar hypophosphatemic diseases, autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and tumor-induced osteomalacia (TIO). FGF-23 has been proposed as a circulating factor causing renal phosphate wasting not only in ADHR (as a result of inadequate degradation), but also in tumor-induced osteomalacia (as a result of excess synthesis by tumor cells). Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. | Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | No relationship was observed between VDR allelic polymorphisms and osteomalacia | Human | SLC4A1 | 6521 | solute carrier family 4 (anion exchanger), member 1 | | Human | SLC2A2 | 6514 | solute carrier family 2 (facilitated glucose transporter), member 2 | | Human | SFRP4 | 6424 | secreted frizzled-related protein 4 | In oncogenic hypophosphatemic osteomalacia (OHO), several tumor-expressed proteins (MEPE, FGF23, and FRP-4) have emerged as candidate mediators of the bone-renal pathophysiology. The sFRP-4 is detectable in normal human serum and in the serum of a patient with tumor-induced osteomalacia. Recent advances in the understanding of these diseases include discovery of mutations in the genes encoding human phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and fibroblast growth factor 23 (FGF-23) and the finding of overproduction of FGF-23 and other proteins including matrix extracellular phosphoglycoprotein (MEPE) and frizzled-related protein 4 (FRP-4) in tumor-induced osteomalacia. | Human | PHEX | 5251 | phosphate regulating endopeptidase homolog, X-linked | Recent advances in the understanding of these diseases include discovery of mutations in the genes encoding human phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and fibroblast growth factor 23 (FGF-23) and the finding of overproduction of FGF-23 and other proteins including matrix extracellular phosphoglycoprotein (MEPE) and frizzled-related protein 4 (FRP-4) in tumor-induced osteomalacia. Genetic studies of autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia (XLH) identified the phosphaturic hormone FGF23 and the membrane metalloprotease PHEX, and investigations of tumor-induced osteomalacia (TIO) discovered the extracellular matrix protein MEPE. | Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | | Human | CLCN5 | 1184 | chloride channel, voltage-sensitive 5 | | Human | ATP7B | 540 | ATPase, Cu++ transporting, beta polypeptide | | Human | ALPL | 249 | alkaline phosphatase, liver/bone/kidney | Osteomalacia (hypophosphatasia only) |
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