National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autoimmune polyglandular syndrome type 2

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Other Names:
Diabetes mellitus, Addison's disease, myxedema; Multiple endocrine deficiency syndrome, type 2; Polyglandular autoimmune syndrome, type 2; Diabetes mellitus, Addison's disease, myxedema; Multiple endocrine deficiency syndrome, type 2; Polyglandular autoimmune syndrome, type 2; Autoimmune polyendocrine syndrome type 2; Schmidt syndrome; Schmidt's syndrome; APS2; PGA 2; Polyglandular deficiency syndrome type 2; Autoimmune polyglandular syndrome type II; PGA-II See More
Categories:
Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1] It is characterized by the presence of Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes.[1] Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome type 2 is diagnosed in adulthood, typically around age 30.[2] The cause of autoimmune polyglandular syndrome type 2 is unknown, although it may involve a combination of genetic and environmental factors. This condition occurs more often in women than men. About 10% of patients with APS-2 and Addison’s disease had a relative with adrenal insufficiency, and about 10% of patients with APS-2 and type 1 diabetes had a sibling with the same disease, and,  or with autoimmune thyroid disease.[1][3]

Currently, there are no unique tests to detect APS-2, but testing for autoantibodies may be helpful in assessing disease risk, since the relevant autoantibodies (such as antibodies to  thyroid peroxidase in autoimmune thyroid disease, or to glutamic acid decarboxylase in type 1 diabetes) are frequently detectable years before disease onset.  Treatment is mainly with hormone replacement therapy.[1][3][2]  
Last updated: 4/4/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Celiac disease 0002608
Graves disease 0100647
Hashimoto thyroiditis 0000872
Primary adrenal insufficiency 0008207
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ] 		0100651
30%-79% of people have these symptoms
Abnormality of the musculature
Muscular abnormality
0003011
Alopecia
Hair loss
0001596
Hypogonadism
Decreased activity of gonads
0000135
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Hypopigmented skin patches
Patchy loss of skin color
0001053
Percent of people who have these symptoms is not available through HPO
Abnormality of the respiratory system 0002086
Asplenia
Absent spleen
0001746
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Band keratopathy 0000585
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Chronic hepatitis
Chronic liver inflammation
0200123
Chronic mucocutaneous candidiasis 0002728
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Hyperthyroidism
Overactive thyroid
0000836
Hypothyroidism
Underactive thyroid
0000821
Iron deficiency anemia 0001891
Keratoconjunctivitis 0001096
Multifactorial inheritance 0001426
Seizure 0001250
Steatorrhea
Fat in feces
0002570
Tetany
Intermittent involuntary muscle spasm
0001281
Thymoma 0100522
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] 		0005978
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Last updated: 7/1/2020
While the cause of polyglandular autoimmune syndrome type 2 is not fully understood, it usually results from an autoimmune reaction, probably triggered by a virus or other environmental antigen.[1][2] There is some evidence of an association between diabetes or hypothyroidism and congenital rubella infection. Other cases may result from immune stimulation caused by certain dietary proteins.[1] In general, there is an  association with certain genes coding for proteins involved with the immune system, particularly of the major histocompatibility complex. For example, patients with APS-2 who are at risk for celiac disease generally have variants in DR3-DQ2 and DR4-DQ8, which also confer a risk of type 1 diabetes, autoimmune thyroid disease, and Addison’s disease.[3]
Last updated: 4/5/2018
Although most cases of autoimmune polyglandular syndrome type 2 are sporadic, some clinical researchers believe that there is a familial or hereditary trait associated with it.[1][4][5] Genetic factors, perhaps related to HLA subtypes, appear to increase susceptibility to this condition.[2] In addition, several different types of inheritance (autosomal recessive, autosomal dominant, multifactorial) have been reported, suggesting that it may involve a complex interaction among many genes.[2][4][6] There have been several reports of multiple family members with one or more endocrine deficiencies.[5]
Last updated: 12/28/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Autoimmune polyglandular syndrome type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 2. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What causes autoimmune polyglandular syndrome type 2? Is it inherited? See answer


  1. Sivarajah S. Polyglandular Autoimmune Syndrome, Type II. Medscape Reference. 2018; http://emedicine.medscape.com/article/124287-overview.
  2. Barker JM. Polyglandular Deficiency Syndromes. Merck Manual for Healthcare Professionals. January 2014; http://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/polyglandular-deficiency-syndromes/polyglandular-deficiency-syndromes.
  3. Husebye ES, Anderson MS & Kämpe O. Autoimmune Polyendocrine Syndromes. N Engl J Med. March 22, 2018; 378(12):1132-1141. https://www.ncbi.nlm.nih.gov/pubmed/29562162.
  4. Autoimmune Polyendocrine Syndrome Type II. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/autoimmune-polyendocrine-syndrome-type-ii/. Accessed 12/28/2015.
  5. Adrenal Insufficiency and Addison's Disease. National Endocrine and Metabolic Diseases Information Service. May 2014; http://www.niddk.nih.gov/health-information/health-topics/endocrine/adrenal-insufficiency-addisons-disease/Pages/fact-sheet.aspx. Accessed 12/28/2015.
  6. Autoimmune Polyendocrine Syndrome, Type II; APS2. Online Mendelian Inheritance in Man (OMIM). May 12, 2014; http://omim.org/entry/269200. Accessed 12/28/2015.