Albinism, oculocutaneous

Important
It is possible that the main title of the report Albinism, oculocutaneous 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.

Synonyms

OCA1
OCA1A
tyrosinase-related OCA
tyrosinase-negative OCA
tyrosinase-negative oculocutaneous albinism
oculocutaneous albinism type 1B
OCA1B
yellow oculocutaneous albinism
temperature-sensitive OCA
platinum oculocutaneous albinism
minimal pigment oculocutaneous albinism
OCA2
OCA Brown
OCA4

Disorder Subdivisions

Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4

General Discussion

Oculocutaneous albinism is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment. Abnormal or insufficient melanin pigmentresults in vision abnormalities and light skin that is very susceptible to damage from the sun. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition.

Resources

National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead, NH 03826-0959
Tel: (603)887-2310
Fax: (603)887-6049
Tel: (800)473-2310
Email: info@albinism.org
Internet: http://www.albinism.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Albinism Fellowship
P.O. Box 77
Burnley
Lancashire, Intl BB11 5GN
United Kingdom
Tel: 44 1282 771900
Email: info@albinism.org.uk
Internet: http://www.albinism.org.uk

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nih.gov/hichd/

MUMS (Mothers United for Moral Support, Inc) 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: mums@netnet.net
Internet: http://www.netnet.net/mums/

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

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 orphan@rarediseases.org

Last Updated: 7/29/2008
Copyright 1985, 1989, 1992, 1994, 1999, 2007, 2008 National Organization for Rare Disorders, Inc.

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