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    APS Type-1

    Important
    It is possible that the main title of the report APS Type-1 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

    • APS 1
    • polyglandular autoimmune syndrome
    • PGA syndrome type 1
    • autoimmune polyendocrinopathy type 1
    • autoimmune-polyendocrine-candidiasis-ectodermal dystrophy syndrome

    Disorder Subdivisions

    • None

    General Discussion

    APS-1 is a rare and complex inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a constellation of symptoms and side-effects with potentially life-threatening endocrine gland and gastro-intestinal dysfunctions. The acronym of APS-1 stands for autoimmune polyglandular syndrome.

    A condition is said to be "autoimmune" when antibodies and immune cells are launched by the body against one or several antigens of its own tissues. Since most of the target antigens have now been discovered, the corresponding auto-antibodies can often be measured in the blood as markers for the ongoing autoimmune disease to which they correspond.

    APS-1 is caused by a large number of mutations of the autoimmune regulator (AIRE) gene. (For further information about the AIRE gene, please go to the 'Causes' section of this report.) HLA-DR/DQ genes also play a role in predisposing to which of the component disease the patient actually develops.

    Resources

    National Adrenal Diseases Foundation
    505 Northern Bloulevard
    Great Neck, NY 11021
    USA
    Tel: (516)487-4992
    Fax: (516)829-5710
    Email: nadfmail@nadf.us
    Internet: http://www.nadf.us/

    Hypoparathyroidism Association, Inc.
    PO Box 2258
    Idaho Falls, ID 83403
    Tel: (866)213-0394
    Fax: (205)524-3857
    Tel: (866)213-0394
    Email: hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org
    Internet: http://www.hypopara.org

    American Autoimmune Related Diseases Association, Inc.
    22100 Gratiot Ave.
    Eastpointe, MI 48021
    Tel: (586)776-3900
    Fax: (586)776-3903
    Tel: (800)598-4668
    Email: aarda@aarda.org
    Internet: http://www.aarda.org/

    Endocrine Society
    8401 Connecticut Ave
    Suite 900
    Chevy Chase, MD 20815
    USA
    Tel: (301)941-0200
    Fax: (301)941-0259
    Tel: (888)363-6274
    Email: societyservices@endo-society.org
    Internet: http://www.endo-society.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    APS Type1.org
    18 Rolling Hill Drive
    Morristown, NJ 07960
    Tel: (973)886-9137
    Fax: (973)734-4936
    Email: htalarico1@optonline.net
    Internet: http://www.apstype1.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: 3/19/2012
    Copyright 1991, 1999, 2007, 2008, 2012 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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