APS Type-1

National Organization for Rare Disorders, Inc.

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
  • Autoimmune Polyendocrinopathy Type I
  • Autoimmune-Polyendocrine-Candidiasis-Ectodermal Dystrophy Syndrome
  • Polyglandular Autoimmune Syndrome
  • PGA Syndrome Type 1

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 Boulevard
Great Neck, NY 11021
USA
Tel: (516)487-4992
Fax: (516)829-5710
Email: NADFmail@aol.com
Internet: http://www.nadf.us/

Hypoparathyroidism Association, Inc.
PO Box 2258
Idaho Falls, ID 83403
Tel: (208)524-3857
Tel: (866)213-0394
Email: hpth@hpth.org
Internet: http://www.hpth.org

American Autoimmune Related Diseases Association, Inc.
22100 Gratiot Avenue
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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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: todd.talarico@novartis.com or htalarico@verizon.net
Internet: http://www.apstype1.org

For a Complete Report

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

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