Autoimmune polyglandular syndrome type 1

How rare is autoimmune polyglandular syndrome type 1?

Autoimmune polyglandular syndrome type 1 is thought to be a rare condition, with about 500 cases reported worldwide. This condition occurs more frequently in certain populations, including Iranian Jews, Sardinians, and Finns.

Last updated on 05-01-20

What is autoimmune polyglandular syndrome type 1?

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. This syndrome can cause a variety of additional signs and symptoms, such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation. Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency.

Complications of APS-1 can affect the bones, joints, skin, and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and several internal organs (kidneys, liver, lungs and the spleen). Anemia may also be present due to a lack of production of the red blood cells. Type 1 diabetes also occurs in some patients with this condition. APS-1 is progressive, with symptoms appearing at different time intervals (chronic mucocutaneous candidiasis and hypoparathyroidism classically appear early in childhood, whereas adrenal insufficiency usually start in the second decade of life). Diagnosis is suspected when there are at least two of these features, specially in young people. APS-1 is caused by variations (mutations) in the AIRE gene. Inheritance is autosomal recessive. Treatment may include hormone-replacement, and medication for candidiasis, as well as specific treatment of any complications. Patients with APS-1 are best followed by an endocrinologist and other specialists.

Most people with APS-1, develop earlier and more severe symptoms than people with a related disease known as autoimmune polyendocrine syndrome type 2 (APS-2).

Last updated on 05-01-20

Where To Start

John's Hopkins - autoimmune polyendocrinopathy syndrome type 1

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.

Last updated on 04-27-20

Name: Juvenile Diabetes Research Foundation International JDRF 26 Broadway, 14th floor
New York, NY, 10004, United States
Toll Free: 1–800–533–CURE (2873) Fax : +1-212–785–9595 Email: Url:
Name: Hormone Health Network United States Toll Free: 1-800-HORMONE (1-800-467-6663) Email: Url:
Name: Pituitary Network Association P.O. Box 1958
Thousand Oaks, CA, 91358 , United States
Phone: +1-805-499-9973 Fax : +1-805-480-0633 Email: Url:
Name: American Autoimmune Related Diseases Association (AARDA) 22100 Gratiot Avenue
Eastpointe, MI, 48021, United States
Phone: 586-776-3900 Toll Free: 800-598-4668 Fax : 586-776-3903 Email: Url:
Name: Hypopara UK 6 The Meads East Grinstead
West Sussex, RH19 4DF, United Kingdom
Phone: 01342 316315 Email: Url:
Name: Adrenal Insufficiency United Toll Free: 1-855-AIUnite (248-6483) Email: Url:
Name: National Adrenal Diseases Foundation NADF P.O. Box 566
Lake Zurich, IL, 60047,
Phone: +1-(847) 726-9010 Email: Url:
Name: APS Type 1 Foundation Email: Url:

Connect with other users with Autoimmune polyglandular syndrome type 1 on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App