Rare Psychiatry News
Advertisement
Disease Profile
Autoimmune polyglandular syndrome type 2
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
Adult
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)
Diabetes mellitus, Addison's disease, myxedema; Multiple endocrine deficiency syndrome, type 2; Polyglandular autoimmune syndrome, type 2;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Summary
Autoimmune polyglandular
Currently, there are no unique tests to detect APS-2, but testing for autoantibodies may be helpful in assessing disease risk, since the relevant autoantibodies (such as
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 | ||
Celiac disease | 0002608 | |
Graves disease | 0100647 | |
Hashimoto thyroiditis | 0000872 | |
Primary adrenal insufficiency | 0008207 | |
Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
30%-79% of people have these symptoms | ||
Abnormality of the musculature |
Muscular abnormality
|
0003011 |
Alopecia |
Hair loss
|
0001596 |
Decreased activity of gonads
|
0000135 | |
Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the respiratory system | 0002086 | |
Asplenia |
Absent spleen
|
0001746 |
0000006 | ||
0000007 | ||
Band keratopathy | 0000585 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Chronic hepatitis |
Chronic liver inflammation
|
0200123 |
Chronic mucocutaneous candidiasis | 0002728 | |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Exocrine pancreatic insufficiency |
Inability to properly digest food due to lack of pancreatic digestive enzymes
|
0001738 |
Hyperthyroidism |
Overactive thyroid
|
0000836 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Iron deficiency |
0001891 | |
Keratoconjunctivitis | 0001096 | |
Multifactorial inheritance | 0001426 | |
0001250 | ||
Steatorrhea |
Fat in feces
|
0002570 |
Tetany |
Intermittent involuntary muscle spasm
|
0001281 |
Thymoma | 0100522 | |
Type II diabetes mellitus |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
Cause
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/ -
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 -
Hormone Health Network
Toll-free: 1-800-HORMONE (1-800-467-6663)
E-mail: [email protected]
Website: https://www.hormone.org -
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/
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 Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) provides information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- 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 2. Click on the link to view a sample search on this topic.
References
- Sivarajah S. Polyglandular Autoimmune Syndrome, Type II. Medscape Reference. 2018; https://emedicine.medscape.com/article/124287-overview.
- Barker JM. Polyglandular Deficiency Syndromes. Merck Manual for Healthcare Professionals. January 2014; https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/polyglandular-deficiency-syndromes/polyglandular-deficiency-syndromes.
- 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.
- Autoimmune Polyendocrine Syndrome Type II. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/autoimmune-polyendocrine-syndrome-type-ii/. Accessed 12/28/2015.
- Adrenal Insufficiency and Addison's Disease. National Endocrine and Metabolic Diseases Information Service. May 2014; https://www.niddk.nih.gov/health-information/health-topics/endocrine/adrenal-insufficiency-addisons-disease/Pages/fact-sheet.aspx. Accessed 12/28/2015.
- Autoimmune Polyendocrine Syndrome, Type II; APS2. Online Mendelian Inheritance in Man (OMIM). May 12, 2014; https://omim.org/entry/269200. Accessed 12/28/2015.
Rare Psychiatry News