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 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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"Resources" on this report.
Copyright 1985, 1989, 1992, 1994, 1999, 2007, 2008
NORD is very grateful to Murray H. Brilliant, PhD, Chair, Graduate Interdisciplinary Program in Genetics, Lindholm Professor of Mammalian Genetics, Department of Pediatrics,
University of Arizona College of Medicine, for assistance in the preparation of this report.
Synonyms of Albinism, oculocutaneous
- Brown OCA
- minimal pigment oculocutaneous albinism
- OCA1
- OCA1A
- OCA1B
- OCA2
- OCA4
- oculocutaneous albinism type 1B
- platinum oculocutaneous albinism
- temperature-sensitive OCA
- tyrosinase-negative OCA
- tyrosinase-negative oculocutaneous albinism
- tyrosinase-related OCA
- yellow oculocutaneous albinism
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.
Organizations related to Albinism, oculocutaneous
- Albinism Fellowship
P.O. Box 77
Burnley
Lancashire Intl BB11 5GN
Phone #: 44 -128-2 771900
800 #: --
e-mail: info@albinism.org.uk
Home page: http://www.albinism.org.uk
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead NH 03826-0959
Phone #: 603-887-2310
800 #: 800-473-2310
e-mail: info@albinism.org
Home page: http://www.albinism.org
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