Autoimmune polyglandular syndrome type 1
Other Names for this Disease
- APS 1
- Autoimmune polyendocrine syndrome type 1
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis
- Autoimmune polyendocrinopathy syndrome type 1
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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.Autoimmune polyglandular syndrome type 1 is an inherited
Last updated: 12/28/2015
- Autoimmune polyglandular syndrome, type 1. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=autoimmunepolyglandularsyndrometype1. Accessed 12/28/2015.
- Genetics Home Reference (GHR) contains information on Autoimmune polyglandular syndrome type 1. This website is maintained by the National Library of Medicine.
- 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.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- Medscape Reference provides information on this topic. 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.