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

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: info@albinism.org.uk
    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: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    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
    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



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