Albinism, oculocutaneous / Disease

Diseases & Conditions

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Albinism, oculocutaneous

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
Lancashire Intl BB11 5GN
Phone #: 44 -128-2 771900
800 #: --
e-mail: [email protected]
Home page: http://www.albinism.org.uk
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: [email protected]
Home page: http://www.netnet.net/mums/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
NIH/National Institute of Child Health and Human Development
31 Center Dr
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: [email protected]
Home page: http://www.albinism.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