KEGG   DISEASE: Hypophosphatemic ricketsHelp
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 phos- phate 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
BRITE hierarchy
Gene
(XLH) PHEX [HSA:5251] [KO:K08636]
(XLRH) CLCN5 [HSA:1184] [KO:K05012]
(ADHR) FGF23 [HSA:8074] [KO:K22428]
(ARHR1) DMP1 [HSA:1758]
(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
  Authors
Rowe PS
  Title
The wrickkened pathways of FGF23, MEPE and PHEX.
  Journal
Crit Rev Oral Biol Med 15:264-81 (2004)
Reference
  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:25620749 (marker)
  Authors
Goldsweig BK, Carpenter TO
  Title
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.
  Journal
Curr Osteoporos Rep 13:88-97 (2015)
DOI:10.1007/s11914-015-0259-y

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