APECED Syndrome/APS1

Synonyms

• Autoimmune Polyglandular Disease Type I
• Autoimmune-Polyendocrinopathy-Candidias

Disorder Subdivisions

• PGA I
• Polyglandular Autoimmune Syndrome, Type I
• PGA II
• Polyglandular Autoimmune Syndrome, Type II
• PGA III
• Polyglandular Autoimmune Syndrome, Type III

General Discussion

APECED syndrome is a very rare genetic syndrome involving the autoimmune system. It is a combination of several distinct disorders and is defined as the subnormal functioning of several endocrine glands at the same time (concurrently). The acronym APECED stands for Autoimmune Polyendocrinopathy (APE), Candidiasis (C) and Ectodermal Dysplasia (ED). Autoimmune disease affecting one gland is frequently followed by the impairment of other glands. In this syndrome two major patterns of failure have been described.

Type I affects children and adults younger than age 35. It is characterized by below normal secretion of the parathyroid gland (hypoparathyroidism--79%) and the failure of the adrenal cortex to secrete normal volumes of hormones (72%). About 60% of women and about 15% of men fail to mature sexually (hypogonadism). A persistant fungal infection (mucocutaneous candidiasisis) is common and chronic.

Type II more frequently strikes adults with peak incidence at about 30 years. Almost invariably it involves the adrenal cortex with thyroid involvement somewhat less frequent. It may also involve the pancreatic islets producing an insulin-dependent diabetes mellitus.

Resources

National Adrenal Diseases Foundation
505 Northern Boulevard
Great Neck, NY 11021
USA
Tel: 5164874992
Fax: 5168295710
Email: NADFmail@aol.com
Internet: http://www.medhelp.org/nadf

American Lung Association
61 Broadway, 6th Floor
New York, NY 10006
USA
Tel: 2123158700
Fax: 2123158870
Tel: 8005864872
Internet: http://www.lungusa.org

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

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

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

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: 1/9/2007
Copyright 1991, 1999, 2007 National Organization for Rare Disorders, Inc.