| H00214 | |
| H number | H00214 |
| Name | Hypophosphatemic rickets |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (XLHR) PHEX [HSA:5251] [KO:K08636] (XLRH) CLCN5 [HSA:1184] [KO:K05012] (ADHR) FGF23 [HSA:8074] [KO:K22428] (ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] (HHRH) SLC34A3 [HSA:142680] [KO:K14683] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C63.22 ICD-10: E83.3 MeSH: D063730 D053098 OMIM: 307800 300554 193100 241520 613312 241530 |
| Reference | PMID:18214537 AUTHORS Pettifor JM TITLE What's new in hypophosphataemic rickets? JOURNAL Eur J Pediatr 167:493-9 (2008) DOI:10.1007/s00431-007-0662-1 PMID:17117305 AUTHORS de Menezes Filho H, de Castro LC, Damiani D TITLE Hypophosphatemic rickets and osteomalacia. JOURNAL Arq Bras Endocrinol Metabol 50:802-13 (2006) DOI:10.1590/S0004-27302006000400025 PMID:7550339 (PHEX) TITLE A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. JOURNAL Nat Genet 11:130-6 (1995) DOI:10.1038/ng1095-130 PMID:8559248 (CLCN5) AUTHORS 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 TITLE A common molecular basis for three inherited kidney stone diseases. JOURNAL Nature 379:445-9 (1996) DOI:10.1038/379445a0 PMID:11062477 (FGF23) TITLE Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. JOURNAL Nat Genet 26:345-8 (2000) DOI:10.1038/81664 PMID:17033625 (DMP1) AUTHORS 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 TITLE DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. JOURNAL Nat Genet 38:1248-50 (2006) DOI:10.1038/ng1868 PMID:20137772 (ENPP1) AUTHORS Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R TITLE Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. JOURNAL Am J Hum Genet 86:273-8 (2010) DOI:10.1016/j.ajhg.2010.01.010 PMID:16358215 (SLC34A3) AUTHORS 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 TITLE Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. JOURNAL Am J Hum Genet 78:193-201 (2006) DOI:10.1086/499410 |