Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Norrie Disease


Synonyms of Norrie Disease
  • Anderson-Warburg Syndrome
  • Atrophia Bulborum Hereditaria
  • Episkopi Blindness
  • Fetal Iritis Syndrome
  • ND
  • NDP
  • Norrie Syndrome
  • Whitnall-Norman Syndrome

Disorder Subdivisions



    General Discussion
    Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene.

    All the males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Some affected individuals may develop hearing (auditory) loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mental retardation may occur in some cases.

    Several disorders can occur due to mutation of the NDP gene including persistent hyperplastic primary vitreous, X-linked familial exudative vitreoretinopathy (XL-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NPD gene. Each of these disorders can also occur secondary to mutations in other genes.

    Organizations related to Norrie Disease
    • American Academy of Audiology
      11730 Plaza America
      Reston VA 20190
      Phone #: 703-790-8466
      800 #: 800-222-2336
      e-mail: info@audiology.org
      Home page: http://www.audiology.org
    • American Council of the Blind, Inc.
      1155 15th Street
      Washington DC 20005
      Phone #: 202-467-5081
      800 #: 800-424-8666
      e-mail: N/A
      Home page: http://www.acb.org
    • American Foundation for the Blind
      11 Penn Plaza
      New York NY 10001
      Phone #: 212-502-7600
      800 #: 800-232-5463
      e-mail: afbinfo@afb.org
      Home page: http://www.afb.org
    • American Society for Deaf Children
      PO Box 3355
      Gettysburg PA 17325
      Phone #: 800-942-6084
      800 #: 800-942-2732
      e-mail: ASDC1@aol.com
      Home page: http://www.deafchildren.org
    • Blind Children's Center
      4120 Marathon Street
      Los Angeles CA 90029-3584
      Phone #: 323-664-2153
      800 #: 800-222-3566
      e-mail: info@blindchildrenscenter.org
      Home page: http://www.blindchildrenscenter.org
    • Blind Children's Fund
      311 W. Broadway
      Mt. Pleasant MI 48858
      Phone #: 989-779-9966
      800 #: --
      e-mail: bcf@blindchildrensfund.org
      Home page: http://www.blindchildrensfund.org
    • Chromosome
      11435 Cronhill Drive
      Owings Mills MD 21117-2220
      Phone #: 410-568-0150
      800 #: 800-683-5555
      e-mail: info@blindness.org
      Home page: http://www.fightblindness.org
    • Council of Families with Visual Impairment
      1155 15th St. NW
      Washington DC 20005
      Phone #: 202-465-5081
      800 #: --
      e-mail: info@acb.org
      Home page: http://www.acb.org/
    • Deafness Research Foundation
      8201 Greensboro Drive
      McLean VA 22102
      Phone #: 703-610-9025
      800 #: 800-829-5934
      e-mail: drf@drf.org
      Home page: N/A
    • Let Them Hear Foundation
      1900 University Ave #101
      East Palo Alto CA 94303
      Phone #: 650-462-3143
      800 #: 877-735-2929
      e-mail: info@letthemhear.org
      Home page: http://www.letthemhear.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Eye Institute
      Building 31 Rm 6A32
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: 2020@nei.nih.gov
      Home page: http://www.nei.nih.gov/
    • National Association for Parents of Children with Visual Impairments (NAPVI)
      P.O. Box 317
      Watertown MA 02472
      Phone #: 617-972-7441
      800 #: 800-562-6265
      e-mail: napvi@perkins.org
      Home page: http://www.napvi.org
    • National Association for Visually Handicapped
      22 West 21st Street
      New York NY 10010
      Phone #: 212-889-3141
      800 #: --
      e-mail: staff@navh.org
      Home page: http://www.navh.org
    • National Association of the Deaf
      814 Thayer Avenue
      Silver Spring MD 20910-4500
      Phone #: 301-587-1788
      800 #: --
      e-mail: NADinfo@nad.org
      Home page: http://www.nad.org
    • National Consortium on Deaf-Blindness (NCDB)
      The Teaching Research Institute
      Monmouth OR 97361
      Phone #: 800-438-9376
      800 #: 800-438-9376
      e-mail: info@nationaldb.org
      Home page: http://www.nationaldb.org
    • National Federation of the Blind
      1800 Johnson Street
      Baltimore MD 21230
      Phone #: 410-659-9314
      800 #: --
      e-mail: nfb@nfb.org
      Home page: http://www.nfb.org
    • Norrie Disease Association
      Massachusetts General Hospital
      Boston MA 02114
      Phone #: 617-726-5718
      800 #: --
      e-mail: ksims@partners.org
      Home page: http://www.norries.org
    • Perkins School for the Blind
      175 North Beacon St.
      Watertown MA 02472
      Phone #: 617-924-3434
      800 #: N/A
      e-mail: Info@Perkins.org
      Home page: http://www.Perkins.org
    • Retinitis Pigmentosa International
      P.O. Box 900
      Woodland Hills CA 91365
      Phone #: 818-992-0500
      800 #: 800-344-4877
      e-mail: info@international.org
      Home page: http://www.rpinternational.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html