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Disease Profile
Autoimmune polyglandular syndrome type 3
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.
0
Age of onset
All ages
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.
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.
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.
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)
Autoimmune polyendocrine syndrome type 3; APS3; Polyglandular autoimmune syndrome type 3;
Categories
Endocrine Diseases
Summary
Autoimmune polyglandular
- APS3A Autoimmune thyroiditis with immune-mediated diabetes mellitus (IMDM)
- APS3B Autoimmune thyroiditis with pernicious anemia
- APS3C Autoimmune thyroiditis with vitiligo and/or alopecia and/or other organ-specific autoimmune disease
The cause is still unknown, but it is believed that it may be an autoimmune disease, where
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 |
0001972 | |
Type I |
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 |
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 |
0001973 | |
Central diabetes insipidus | 0000863 | |
Hepatitis |
Liver inflammation
|
0012115 |
Hypergonadotropic |
0000815 | |
Iridocyclitis | 0001094 | |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Non-caseating epithelioid |
0012220 | |
Osteopenia | 0000938 | |
Rheumatoid |
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
-
American Thyroid Association
6066 Leesburg Pike, Suite 550
Falls Church, VA 22041
Toll-free: 800–THYROID (849–7643)
Telephone: 703–998–8890
Fax: 703–998–8893
E-mail: [email protected]
Website: https://www.thyroid.org
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
- Johns Hopkins Medical Institute offers an information page on Autoimmune polyglandular syndrome type 3 Please click on the link to access this resource.
- 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.
- 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
- Aung K. Type III Polyglandular Autoimmune Syndrome. Medscape Reference. 2017; https://emedicine.medscape.com/article/124398-overview.
- 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/.
- 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.