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 1

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Other Names:
APS 1; Autoimmune polyendocrine syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); APS 1; Autoimmune polyendocrine syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; Autoimmune polyendocrinopathy syndrome type 1; Polyglandular autoimmune syndrome type 1; PGA 1; PGA-I; Whitaker syndrome; Type I Polyglandular Autoimmune Syndrome; Autoimmune polyglandular syndrome type I See More
Categories:
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.[1] Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency.[2] 

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.[2] Type 1 diabetes also occurs in some patients with this condition.[1] 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. [2][3] APS-1 is caused by variations (mutations) in the AIRE gene. Inheritance is  autosomal recessive.[1] 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.[2] 
 
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: 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
Abnormal calcium-phosphate regulating hormone level 0100530
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormality of the cerebral vasculature
Abnormality of the cerebral blood vessels
0100659
Adrenal hyperplasia
Enlarged adrenal glands
0008221
Autoimmunity
Autoimmune disease
Autoimmune disorder
[ more ] 		0002960
Chronic mucocutaneous candidiasis 0002728
Decreased circulating aldosterone level
Low blood aldosterone level
0004319
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Increased circulating cortisol level 0003118
Opacification of the corneal stroma 0007759
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
30%-79% of people have these symptoms
Cataract
Cloudy lens
Clouding of the lens of the eye
[ more ] 		0000518
5%-29% of people have these symptoms
Alopecia
Hair loss
0001596
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Hypopigmented skin patches
Patchy loss of skin color
0001053
1%-4% of people have these symptoms
Chronic atrophic gastritis 0002582
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Hypothyroidism
Underactive thyroid
0000821
Keratoconjunctivitis 0001096
Malabsorption
Intestinal malabsorption
0002024
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Primary adrenal insufficiency 0008207
Vitiligo
Blotchy loss of skin color
0001045
Percent of people who have these symptoms is not available through HPO
Anemia
Low number of red blood cells or hemoglobin
0001903
Asplenia
Absent spleen
0001746
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Cholelithiasis
Gallstones
0001081
Chronic active hepatitis 0200120
Constriction of peripheral visual field
Limited peripheral vision
0001133
Decreased circulating parathyroid hormone level 0031817
Diabetes mellitus 0000819
Diarrhea
Watery stool
0002014
Female hypogonadism 0000134
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Male hypogonadism
Decreased function of male gonad
0000026
Pallor 0000980
Pigmentary retinopathy 0000580
Reduced visual acuity
Decreased clarity of vision
0007663
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ] 		0100651
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

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

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include IPEX syndrome and, principally, autoimmune polyendocrinopathy type 2 (see these terms).
Visit the Orphanet disease page for more information.

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

  • ClinicalTrials.gov lists trials that are related to Autoimmune polyglandular syndrome type 1. 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. 
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Autoimmune polyglandular syndrome type 1. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Autoimmune polyglandular syndrome type 1:
    APS Type 1 (APECED) Registry
     

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

Social Networking Websites

  • Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view the Making Contact page for autoimmune polyendocrineopathy syndrome type 1.

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.
  • 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.

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

  • How rare is autoimmune polyglandular syndrome type 1? See answer


  1. Autoimmune polyglandular syndrome, type 1. Genetics Home Reference. 2016; http://ghr.nlm.nih.gov/condition=autoimmunepolyglandularsyndrometype1.
  2. 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.
  3. Sanford E, Watkins K, Nahas S & cols. Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. Cold Spring Harb Mol Case Stud. February 1, 2018; https://www.ncbi.nlm.nih.gov/pubmed/29437776.