KEGG   DISEASE: Hypophosphatemic rickets
Entry
H00214                      Disease                                
Name
Hypophosphatemic rickets
  Subgroup
X-linked dominant hypophosphatemic rickets (XLH) [DS:H02143]
X-linked recessive hypophosphatemic rickets (XLRH) [DS:H02142]
Autosomal dominant hypophosphatemic rickets (ADHR) [DS:H02141]
Autosomal recessive hypophosphatemic rickets (ARHR) [DS:H02139]
Hereditary hypophophatemic rickets with hypercalciuria (HHRH) [DS:H02138]
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of ion transport and metabolism
   H00214  Hypophosphatemic rickets
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C63  Disorders of vitamin or non-protein cofactor absorption or transport
     H00214  Hypophosphatemic rickets
Related
pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
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]
Other DBs
ICD-11: 5C63.22
ICD-10: E83.3
MeSH: D063730 D053098
OMIM: 307800 300554 193100 241520 613312 241530
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system