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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypophosphatasia


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

Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth.[1] HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner.[2] While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA.[3][4]
Last updated: 2/1/2016

References

  1. Hypophosphatasia. Genetics Home Reference (GHR). September 2007; http://ghr.nlm.nih.gov/condition=hypophosphatasia.
  2. Etienne Mornet and Mark E Nunes. Hypophosphatasia. GeneReviews. November, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1150/.
  3. Morrow T. Expensive New Biologic Helps Children Fight Hypophosphatasia. Manag Care. December, 2015; 24(12):25-26. http://www.managedcaremag.com/linkout/2015/12/25.
  4. Scott LJ. Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia. Drugs. February, 2016; 76(2):255-262.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypophosphatasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Phosphoethanol-aminuria
  • Hypophosphatasia mild
  • 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.