Autoimmune polyglandular syndrome type 1

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Disease Profile

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Childhood

ICD-10

E31.0

Inheritance

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

APS 1; Autoimmune polyendocrine syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED);

Summary

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).

Symptoms

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.

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
Alopecia universalis		0002289
Chronic active hepatitis		0200120
Chronic atrophic gastritis		0002582
Chronic oral candidiasis	Chronic oral thrush	0009098
Constriction of peripheral visual field	Limited peripheral vision	0001133
Hypoplasia of dental enamel	Underdeveloped teeth enamel	0006297
Hypothyroidism	Underactive thyroid	0000821
Iridocyclitis		0001094
Keratoconjunctivitis		0001096
Malabsorption	Intestinal malabsorption	0002024
Nail dystrophy	Poor nail formation	0008404
Nephrocalcinosis	Too much calcium deposited in kidneys	0000121
Pigmentary retinopathy		0000580
Reduced visual acuity	Decreased clarity of vision	0007663
Tympanosclerosis		0020123
Type I diabetes mellitus	Type 1 diabetes Type I diabetes [ more ]	0100651
Vitiligo	Blotchy loss of skin color	0001045
Percent of people who have these symptoms is not available through HPO
Asplenia	Absent spleen	0001746
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Childhood onset	Symptoms begin in childhood	0011463
Cholelithiasis	Gallstones	0001081
Decreased circulating parathyroid hormone level		0031817
Diarrhea	Watery stool	0002014
Female hypogonadism		0000134
Male hypogonadism	Decreased function of male gonad	0000026
Perifoveal ring of hyperautofluorescence		0030629
Premature ovarian insufficiency	Early menopause Premature menopause Premature ovarian failure [ more ]	0008209

Do you have updated information on this disease? We want to hear from you.

Diagnosis

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.

Treatment

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.

Related diseases

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.

Organizations

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

Adrenal Insufficiency United
Toll-free: 1-855-AIUnite (248-6483)
E-mail: [email protected]
Website: https://aiunited.org/
APS Type 1 Foundation
E-mail: https://apstype1.org/contact-us/
Website: https://apstype1.org/
Hormone Health Network
Toll-free: 1-800-HORMONE (1-800-467-6663)
E-mail: [email protected]
Website: https://www.hormone.org
Hypopara UK
6 The Meads
East Grinstead
West Sussex, RH19 4DF United Kingdom
Telephone: 01342 316315
E-mail: [email protected]
Website: https://hypopara.org.uk/home.php
Juvenile Diabetes Research Foundation International (JDRF)
26 Broadway, 14th floor
New York, NY 10004
Toll-free: 1–800–533–CURE (2873)
Fax: +1-212–785–9595
E-mail: [email protected]
Website: https://www.jdrf.org/
National Adrenal Diseases Foundation (NADF)
P.O. Box 566
Lake Zurich, IL 60047
Telephone: +1-(847) 726-9010
E-mail: [email protected]
Website: https://www.nadf.us
Pituitary Network Association
P.O. Box 1958
Thousand Oaks, CA 91358
Telephone: +1-805-499-9973
Fax: +1-805-480-0633
E-mail: [email protected]
Website: https://pituitary.org/

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

American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/

Learn more

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

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.
Genetics Home Reference (GHR) contains information on Autoimmune polyglandular syndrome type 1. This website is maintained by the National Library of Medicine.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.

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.

References

Autoimmune polyglandular syndrome, type 1. Genetics Home Reference. 2016; https://ghr.nlm.nih.gov/condition=autoimmunepolyglandularsyndrometype1.
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.
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.

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