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Genes (10)
Species: human : 10 | |
Human | FGF23 | 8074 | fibroblast growth factor 23 | 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). 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. 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. FGF23 levels were variably elevated in subjects with hypophosphatemia of unknown cause, one of which had tumor-induced osteomalacia (TIO). 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). 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. Recent studies on tumor-induced osteomalacia suggested that phosphatonin was potentially identical to fibroblast growth factor (FGF)-23. 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. 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 | 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. In oncogenic hypophosphatemic osteomalacia (OHO), several tumor-expressed proteins (MEPE, FGF23, and FRP-4) have emerged as candidate mediators of the bone-renal pathophysiology. | Human | PHEX | 5251 | phosphate regulating endopeptidase homolog, X-linked | 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. | 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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