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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypophosphatasia


Other Names for this Disease
  • Phosphoethanol-aminuria
  • Hypophosphatasia mild
  • HPP
  • Phosphoethanolaminuria
  • Rathburn disease
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Cause

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What causes hypophosphatasia?

Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineralization process. A shortage of the enzyme also causes other substances to build up in the body. These abnormalities lead to the features of HPP.

ALPL mutations that almost completely eliminate alkaline phosphatase activity generally cause the more severe forms of HPP, while mutations that reduce activity to a lesser extent often cause the milder forms of HPP.[1]
Last updated: 2/1/2016

References
  1. Hypophosphatasia. Genetics Home Reference (GHR). September 2007; http://ghr.nlm.nih.gov/condition=hypophosphatasia.


Other Names for this Disease
  • Phosphoethanol-aminuria
  • Hypophosphatasia mild
  • HPP
  • Phosphoethanolaminuria
  • Rathburn disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.