ImportantIt is possible that the main title of the report Norrie Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene. All 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. Most affected individuals develop hearing (auditory) loss which is progressive of many years and some may 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 (PHPV), X-linked familial exudative vitreoretinopathy (X-linked-FEVR), and some cases of retinopathy of prematurity (ROP) and Coats disease. These disorders represent a spectrum of disease associated with the NDP gene. Each of these disorders can also occur secondary to mutations in other genes.
Foundation Fighting Blindness 7168 Columbia Gateway Drive, Suite 100 Columbia, MD 21046 Tel: (410)423-0600 Fax: (410)872-0574 Tel: (800)683-5555 TDD: (800)683-5551 Email: info@FightBlindness.org Internet: http://www.blindness.org/March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.comLighthouse International 111 E 59th St New York, NY 10022-1202 Tel: (800)829-0500 Email: email@example.com Internet: http://www.lighthouse.orgThe Arc 1660 L Street, NW, Suite 301 Washington, DC 20036 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: firstname.lastname@example.org Internet: http://www.thearc.orgDeafness Research Foundation 363 Seventh Avenue,10th Floor New York, NY 10016-3904 United States Tel: (212)257-6140 Fax: (212)257-6139 Tel: (866)454-3924 TDD: (888)435-6104 Email: email@example.com/ Internet: http://www.drf.org/Retinitis Pigmentosa International P.O. Box 900 Woodland Hills, CA 91365 Tel: (818)992-0500 Fax: (818)992-3265 Tel: (800)344-4877 Email: firstname.lastname@example.org Internet: http://www.rpinternational.orgNorrie Disease Association P.O. Box 3244 Munster, MA 46321 Tel: (708)620-4556 Email: email@example.com Internet: http://www.norriedisease.orgNational Association for Parents of Children with Visual Impairments (NAPVI) P.O. Box 317 Watertown, MA 02272-0317 Tel: (617)972-7441 Fax: (617)972-7444 Tel: (800)562-6265 Email: firstname.lastname@example.org Internet: http://www.napvi.orgNational Federation of the Blind 200 East Wells Street at Jernigan Place Baltimore, MD 21230 USA Tel: (410)659-9314 Fax: (410)685-5653 Email: email@example.com Internet: http://www.nfb.orgAmerican Society for Deaf Children 800 Florida Avenue NE 2047 Washington, DC 20002-3695 Tel: (866)895-4206 Fax: (410)795-0965 Tel: (800)942-2732 TDD: (717)334-7922 Email: firstname.lastname@example.org Internet: http://www.deafchildren.orgAmerican Foundation for the Blind 2 Penn Plaza Suite 1102 New York, NY 10121 Tel: (212)502-7600 Fax: (888)545-8331 Tel: (800)232-5463 TDD: (212)502-7662 Email: email@example.com Internet: http://www.afb.orgBlind Children's Fund 6761 W. US 12 PO Box 363 Three Oaks, MI 49128 Tel: (989)779-9966 Fax: (269)756-3133 Email: firstname.lastname@example.org Internet: http://www.blindchildrensfund.orgAmerican Council of the Blind 2200 Wilson Boulevard Suite 650 Arlington, VA 22201 Tel: (202)467-5081 Fax: (202)465-5085 Tel: (800)424-8666 Email: email@example.com Internet: http://www.acb.org/National Association of the Deaf 8630 Fenton Street Suite 820 Silver Springs, MD 20910 USA Tel: (301)587-1788 Fax: (301)587-1791 TDD: (301)587-1789 Email: NADinfo@nad.org Internet: http://www.nad.orgNIH/National Eye Institute 31 Center Dr MSC 2510 Bethesda, MD 20892-2510 United States Tel: (301)496-5248 Fax: (301)402-1065 Email: firstname.lastname@example.org Internet: http://www.nei.nih.gov/Blind Children's Center 4120 Marathon Street Los Angeles, CA 90029-3584 USA Tel: (323)664-2153 Fax: (323)665-3828 Tel: (800)222-3566 Email: email@example.com Internet: http://www.blindchildrenscenter.orgMUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: firstname.lastname@example.org Internet: http://www.netnet.net/mums/Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.orgLet Them Hear Foundation 1900 University Avenue, Suite 101 East Palo Alto, CA 94303 Tel: (650)462-3143 Fax: (650)462-3144 Tel: (877)735-2929 Email: firstname.lastname@example.org Internet: http://www.letthemhear.orgAmerican Academy of Audiology 11730 Plaza America Drive, Suite 300 Reston, VA 20190 Tel: (703)790-8466 Fax: (703)790-8631 Tel: (800)222-2336 Email: email@example.com Internet: http://www.audiology.orgPerkins School for the Blind 175 North Beacon Street Watertown, MA 02472 Tel: (617)924-3434 Fax: (617)926-2027 Email: Info@Perkins.org Internet: http://www.Perkins.orgNational Consortium on Deaf-Blindness The Teaching Research Institute 345 N. Monmouth Avenue Monmouth, OR 97361 Tel: (800)438-9376 Fax: (503)838-8150 Tel: (800)438-9376 TDD: (800)854-7013 Email: firstname.lastname@example.org Internet: http://www.nationaldb.orgHearing Loss Association of America 7910 Woodmont Avenue Suite 1200 Bethesda, MD 20814 Tel: (301)657-2248 Fax: (301)913-9413 Email: email@example.com Internet: http://www.hearingloss.org
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this reportThis disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.orgLast Updated: 1/19/2012Copyright 1988, 1989, 1994, 1996, 2001, 2008, 2012 National Organization for Rare Disorders, Inc.
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 1/19/2012Copyright 1988, 1989, 1994, 1996, 2001, 2008, 2012 National Organization for Rare Disorders, Inc.
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