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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
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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]

References

  1. Autoimmune polyglandular syndrome, type 1. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=autoimmunepolyglandularsyndrometype1. Accessed May 29, 2009.
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General Information

  • Genetics Home Reference (GHR) contains information on Autoimmune polyglandular syndrome type 1. Click on the link to go to GHR and review the information.
  • The John’s Hopkins Medical Institute Web site has an information page titled "Polyglandular Autoimmune Syndrome Type 1 (PAS-1)." Click on the link above to view this information page.
  • Madisonsfoundation.org has an information page on autoimmune polyglandular syndrome type 1.
  • 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.
  • The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
  • 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 National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Autoimmune polyglandular syndrome type 1. Click on the link to go to OMIM and review these resources.