エントリ 名称 低リン血症性くる病
下位グループ 概要 Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets.
カテゴリ 先天性代謝異常症
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ]jp08407.html ] BRITE hierarchy パスウェイ hsa04928 Parathyroid hormone synthesis, secretion and action
ネットワーク 病因遺伝子 治療薬 アルファカルシドール [DR:
D01518 ]
リン酸二水素ナトリウム一水和物・無水リン酸水素二ナトリウム [DR:
D08815 ]
リンク 文献 著者 Pettifor JM
タイトル What's new in hypophosphataemic rickets?
雑誌 文献 著者 de Menezes Filho H, de Castro LC, Damiani D
タイトル Hypophosphatemic rickets and osteomalacia.
雑誌 文献 タイトル A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.
雑誌 文献 著者 Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV
タイトル A common molecular basis for three inherited kidney stone diseases.
雑誌 文献 タイトル Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
雑誌 文献 著者 Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM
タイトル DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
雑誌 文献 著者 Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R
タイトル Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
雑誌 文献 著者 Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
タイトル Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
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