KEGG DISEASE: Hypophosphatemic rickets

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

Inherited metabolic disorder

Brite

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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H00214  Hypophosphatemic rickets
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00214  Hypophosphatemic rickets

Pathway

hsa04928

Parathyroid hormone synthesis, secretion and action

hsa04518

Integrin signaling

Network

nt06325 Hormone/cytokine signaling
nt06548 Integrin signaling

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

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

Reference

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

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

DISEASE: Autosomal recessive hypophosphatemic rickets

Entry

H02139                      Disease

Name

Autosomal recessive hypophosphatemic rickets

Supergrp

Hypophosphatemic rickets [DS:H00214]

Description

Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially in osteoblasts and osteocytes, and is a key regulatory protein that is required for the normal growth and development of bone, cartilage and dentin. Recently, ARHR associated with a mutation in the ENPP1 gene has also been reported.