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    Aceruloplasminemia

    Important
    It is possible that the main title of the report Aceruloplasminemia 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

    • familial apoceruloplasmin deficiency
    • hereditary ceruloplasmin deficiency

    Disorder Subdivisions

    • None

    General Discussion

    Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene. This mutation is inherited as an autosomal recessive trait.

    Aceruloplasminemia is classified as a Neurodegenerative disorder with Brain Iron Accumulation (NBIA). NBIA are a group of rare inherited disorders characterized by iron accumulation in the brain. Aceruloplasminemia is also classified as an iron overload disorder.

    Resources

    Iron Overload Diseases Association, Inc.
    525 Mayflower Road
    West Palm Beach, Fl 33405
    Tel: (561)586-8246
    Fax: (561)842-9881
    Tel: (866)768-8629
    Email: iod@ironoverload.org
    Internet: http://ironoverload.org

    NBIA Disorders Association
    2082 Monaco Court
    El Cajon, CA 92019-4235
    Tel: (619)588-2315
    Fax: (619)588-4093
    Email: info@nbiadisorders.org
    Internet: http://www.nbiadisorders.org

    Iron Disorders Institute
    PO Box 675
    Taylors, SC 29687
    USA
    Tel: (864)292-1175
    Fax: (864)292-1878
    Tel: (888)565-4766
    Email: info@irondisorders.org
    Internet: http://www.irondisorders.org

    For a Complete Report:

    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 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: 3/12/2013
    Copyright 2010, 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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