Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Autoimmune polyglandular syndrome type 1


Other Names for this Disease
  • APS 1
  • Autoimmune polyendocrine syndrome type 1
  • Autoimmune polyendocrinopathy syndrome type 1
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
  • Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion.[1]
Last updated: 5/28/2009

References

  1. Autoimmune polyglandular syndrome, type 1. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=autoimmunepolyglandularsyndrometype1. Accessed 5/29/2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Autoimmune polyglandular syndrome type 1 have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autoimmune polyglandular syndrome type 1. Click on the link to view a sample search on this topic.