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Disease Profile

Autoimmune polyglandular syndrome type 3

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.

Unknown

Age of onset

All ages

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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)

Autoimmune polyendocrine syndrome type 3; APS3; Polyglandular autoimmune syndrome type 3;

Categories

Endocrine Diseases

Summary

Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body's endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.[1][2][3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, and Sjogren's syndrome.[2] The adrenal cortex (the outer layer of the adrenal gland) is not involved.[1][2][3] There are three types of autoimmune polyglandular syndrome type 3:[1][2]

The cause is still unknown, but it is believed that it may be an autoimmune disease, where environmental factors (such as viral infections) and genetic factors (such as variations in the HLA II genes) are also involved in the disease. In many cases more than one member of the same family is affected with PAS III, suggesting that its inheritance could be autosomal dominant, and therefore, familiar screening is recommended. It is very important that people with APS3 are monitored closely by their doctors for early detection of any glandular problems. Treatment includes lifelong hormone replacement therapy for any established glandular failure.[1]

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
30%-79% of people have these symptoms
Celiac disease
0002608
Chronic atrophic gastritis
0002582
Graves disease
0100647
Hashimoto thyroiditis
0000872
Macrocytic anemia
0001972
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651
5%-29% of people have these symptoms
Alopecia
Hair loss
0001596
Anterior pituitary dysgenesis
0010625
Biliary cirrhosis
0002613
Decreased circulating antibody level
0004313
Leukopenia
Decreased blood leukocyte number
Low white blood cell count

[ more ]

0001882
Vitiligo
Blotchy loss of skin color
0001045
1%-4% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Abnormal pulmonary Interstitial morphology
Abnormality in area between air sacs in lung
0006530
Antiphospholipid antibody positivity
0003613
Aplasia/Hypoplasia of the spleen
Absent/small spleen
Absent/underdeveloped spleen

[ more ]

0010451
Autoimmune hypoparathyroidism
0011771
Autoimmune thrombocytopenia
0001973
Central diabetes insipidus
0000863
Hepatitis
Liver inflammation
0012115
Hypergonadotropic hypogonadism
0000815
Iridocyclitis
0001094
Keratoconjunctivitis sicca
Dry eyes
0001097
Non-caseating epithelioid cell granulomatosis
0012220
Osteopenia
0000938
Rheumatoid arthritis
0001370
Thymoma
0100522
Tubulointerstitial nephritis
0001970
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation

[ more ]

0000217

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

    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.
        • 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.
        • 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 3. Click on the link to view a sample search on this topic.

          References

          1. Aung K. Type III Polyglandular Autoimmune Syndrome. Medscape Reference. 2017; https://emedicine.medscape.com/article/124398-overview.
          2. Cihakova D. Polyglandular Autoimmune syndrome Type 3 (PAS 3). Johns Hopkins Medical Institutions: Autoimmune Disease Research Center. 2018; https://labs.pathology.jhu.edu/cihakova/about/about/endocrine-diseases/polyglandular-autoimmune-syndrome-type-3-pas-3/.
          3. Tariq SH. Polyglandular Deficiency Syndromes. The Merck Manual. 2018; https://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/polyglandular_deficiency_syndromes/polyglandular_deficiency_syndromes.html.