Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

FGF23-induced hypophosphatemic rickets

By hypophosphatemic rickets, disturbances of phosphate metabolism are subsumed which are characterized by hyperphosphaturia and bone mineral loss. The common pathway is elevated levels of the phophaturic hormone FGF23.

Classification

Based on it inheritance, hypophosphatemic rickets can be divided into recessive and dominant forms which can be further subdivided according the mutated gene

G cluster0 cluster1 dominant HR cluster2 recessive HR s0 Hypophosphatemic rickets HR a0 s0->a0 b0 s0->b0 a1 autosomal dominant HR FGF23 a2 X-chromosomal dominant HR PHEX b1 autosomal recessive HR1 DMP1 b2 autosomal recessive HR2 ENPP1
Classification hypophosphatemic rickets

Systematic

Hypophosphatemic bone and kindney disease
Disorders of the renal phosphate transporters
FGF23-induced hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets
FGF23
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
X-linked dominant hypophosphatemic rickets
PHEX
Fanconi-type hypophosphatemic rickets
Hypophosphatemic rickets with hyperparathyroidism
Osteoglophonic dysplasia
Raine syndrome
X-linked dominant hypophosphatemic rickets

References:

1.

Rowe PS et al. (1992) Three DNA markers for hypophosphataemic rickets.

[^]
2.

None (1969) Current concepts. Vitamin D.

[^]
3.

Pak CY et al. (1972) Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.

[^]
4.

Brickman AS et al. (1973) Actions of 1,25-dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets.

[^]
5.

Harrison HE et al. (1966) Growth disturbance in hereditary hypophosphatemia.

[^]
6.

Econs MJ et al. (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.

[^]
7.

Holm IA et al. (1997) Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

[^]
8.

Econs MJ et al. (1997) Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

[^]
9.

None (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

[^]
10.

WINTERS RW et al. (1958) A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

[^]
11.

WILSON DR et al. (1965) STUDIES IN HYPOPHOSPHATEMIC VITAMIN D-REFRACTORY OSTEOMALACIA IN ADULTS.

[^]
12.

Econs MJ et al. (1990) The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.

[^]
13.

Hardy DC et al. (1989) X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features.

[^]
14.

Stickler GB et al. (1989) Hypophosphataemic rickets: final height and clinical symptoms in adults.

[^]
15.

Thakker RV et al. (1987) Bridging markers defining the map position of X linked hypophosphataemic rickets.

[^]
16.

Firth RG et al. (1985) Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia. Report of two cases.

[^]
17.

Read AP et al. (1986) Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

[^]
18.

Mächler M et al. (1986) X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

[^]
19.

Adams JE et al. (1986) Intra-spinal new bone formation and spinal cord compression in familial hypophosphataemic vitamin D resistant osteomalacia.

[^]
20.

Harrell RM et al. (1985) Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol.

[^]
21.

Polisson RP et al. (1985) Calcification of entheses associated with X-linked hypophosphatemic osteomalacia.

[^]
22.

O'Malley S et al. () Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia.

[^]
23.

Earp HS et al. (1970) Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets.

[^]
24.

Glorieux F et al. (1972) Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.

[^]
25.

Glorieux FH et al. (1972) Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.

[^]
26.

Cohanim M et al. (1972) Effects of prolonged treatment with 25-hydroxycholecalciferol in hypophosphatemic (vitamin D refractory) rickets and osteomalacia.

[^]
27.

Moser CR et al. (1974) Rheumatic manifestations of hypophosphatemia.

[^]
28.

Short EM et al. (1973) Familial hypophosphatemic rickets: defective transport of inorganic phosphate by intestinal mucosa.

[^]
29.

Condon JR et al. (1971) Pathogenesis of rickets and osteomalacia in familial hypophosphataemia.

[^]
30.

Condon JR et al. (1970) Defective intestinal phosphate absorption in familial and non-familial hypophosphataemia.

[^]
31.

Highman JH et al. (1970) Vitamin-D-resistant osteomalacia as a cause of cord compression.

[^]
32.

None (1969) Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy.

[^]
33.

Rasmussen H et al. (1981) Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1 alpha-hydroxyvitamin D3.

[^]
34.

Chesney RW et al. (1983) Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets.

[^]
35.

Davies M et al. (1984) Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.

[^]
36.

Cole DE et al. (1984) The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse.

[^]
37.

None (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.

[^]
38.

Carpenter TO et al. (1994) Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia.

[^]
39.

Carpenter TO et al. (1996) 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study.

[^]
40.

Nehgme R et al. (1997) Cardiovascular abnormalities in patients with X-linked hypophosphatemia.

[^]
41.

Seikaly MG et al. (1997) The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.

[^]
42.

Econs MJ et al. (1998) A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

[^]
43.

Sabbagh Y et al. (2000) PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.

[^]
44.

Quarles LD et al. (2001) Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem.

[^]
45.

Mäkitie O et al. (2003) Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.

[^]
46.

BLACKARD WG et al. (1962) Familial hypophosphatemia. Report of a case, with observations regarding pathogenesis.

[^]
47.

BURNETT CH et al. (1964) VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

[^]
48.

Savio RM et al. (2004) Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.

[^]
49.

Cho HY et al. (2005) A clinical and molecular genetic study of hypophosphatemic rickets in children.

[^]
50.

Makras P et al. (2008) Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.

[^]
51.

Gaucher C et al. (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

[^]
52.

Levine BS et al. (2009) The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport.

[^]
53.

Liu ES et al. (2011) Calcitonin administration in X-linked hypophosphatemia.

[^]
54.

OMIM.ORG article

Omim 241520 [^]
Update: April 29, 2019