Rare Gastroenterology News

Disease Profile

Autoimmune polyglandular syndrome type 1

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Childhood

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ICD-10

E31.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

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

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.

      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

        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

            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

              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

                1. Autoimmune polyglandular syndrome, type 1. Genetics Home Reference. 2016; https://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.