Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Norrie disease


Other Names for this Disease

  • Anderson-Warburg syndrome
  • Atrophia bulborum hereditaria
  • Episkopi blindness
  • Fetal iritis syndrome
  • NDP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.[1] Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Some affected individuals may develop hearing loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues.[2] Mutations in the NDP gene cause Norrie disease. It is inherited in an X-linked recessive pattern.[1][2]
Last updated: 2/15/2010

References

  1. Norrie disease. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=norriedisease. Accessed 2/15/2010.
  2. Sims KB. Norrie Disease. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Norrie%20Disease. Accessed 2/15/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

3 question(s) from the public on Norrie disease have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Norrie disease. This website is maintained by the National Library of Medicine.
  • 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

  • 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 Norrie disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Anderson-Warburg syndrome
  • Atrophia bulborum hereditaria
  • Episkopi blindness
  • Fetal iritis syndrome
  • NDP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.