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Diseases

Genetic and Rare Diseases Information Center (GARD)

Norrie disease


Other Names for this Disease
  • Atrophia bulborum hereditaria
  • Pseudoglioma
  • Episkopi blindness
  • Norrie syndrome
  • Norrie-Warburg syndrome
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Cause

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What causes Norrie disease?

Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome.[1][2] It is inherited in an X-linked recessive manner.[1][2][3] The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the norrin protein seems to play an important role in the development of retinal cells in the eye. It is also involved in creating a blood supply to tissues of the retina and the inner ear, and the development of other body systems. Mutations in the NDP gene can prevent the norrin protein from working correctly, resulting in the signs and symptoms of Norrie disease.[1][3]
Last updated: 3/11/2016

References
  1. Norrie disease. Genetics Home Reference (GHR). March 2007; https://ghr.nlm.nih.gov/condition/norrie-disease.
  2. Sims KB. Norrie Disease. National Organization for Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/norrie-disease/.
  3. Katherine B Sims. NDP-Related Retinopathies. GeneReviews. September 18, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1331/.


Other Names for this Disease
  • Atrophia bulborum hereditaria
  • Pseudoglioma
  • Episkopi blindness
  • Norrie syndrome
  • Norrie-Warburg syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.