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Genetic and Rare Diseases Information Center (GARD)

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Hypophosphatemic rickets


Other Names for this Disease
  • HYP
  • Hypophosphatemia, X-linked
  • Hypophosphatemia, vitamin D-resistant rickets
  • Vitamin D-resistant rickets, X-linked
  • XLH
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Overview


Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily because the blood contains low levels of phosphate and has inadequate amounts of the active form of vitamin D.[1] The condition can be caused by mutations in the phosphate-regulating endopeptidase gene, also known as the PHEX gene and is nearly always inherited.[2] The aim of treatment is to raise phosphate levels in the blood, which will promote normal bone formation. Phosphate can be taken by mouth and should be combined with calcitriol, the activated form of vitamin D.[1]
Last updated: 9/17/2009

References

  1. Brazy PC. Hypophosphatemic Rickets. The Merck Manual of Medical Information - 2nd edition. 2006; http://www.merck.com/mmhe/print/sec11/ch146/ch146g.html. Accessed 1/3/2012.
  2. Hypophosphatemic Rickets, X-Linked Dominant. Online Mendelian Inheritance in Man (OMIM). 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307800. Accessed 9/13/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hypophosphatemic rickets. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypophosphatemic rickets. Click on the link to view a sample search on this topic.