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||
|80%-99% of people have these symptoms|
|Abnormality of calcium-phosphate metabolism||0100530|
|Abnormality of the cerebral vasculature||
Abnormality of the cerebral blood vessels
|Abnormality of the fingernails||
Enlarged adrenal glands
Autoimmune disorder[ more ]
|Chronic mucocutaneous candidiasis||0002728|
|Decreased circulating aldosterone level||0004319|
|Increased circulating cortisol level||0003118|
|Opacification of the corneal stroma||0007759|
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
Loss of eyesight
Poor vision[ more ]
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Hypopigmented skin patches||0001053|
|Percent of people who have these symptoms is not available through HPO|
|Chronic active hepatitis||0200120|
|Chronic atrophic gastritis||0002582|
|Constriction of peripheral visual field||
Limited peripheral vision
|Hypoplasia of dental enamel||0006297|
|Reduced visual acuity||0007663|
|Type I diabetes mellitus||
Type 1 diabetes
Type I diabetes[ more ]
Blotchy loss of skin color
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.
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 -
Sunday, May 26, 2013
Location: Lausanne, Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.
Contact: Daniel Kastner, M.D., Ph.D., firstname.lastname@example.org
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
Workshop on Stem Cell Therapy for Rheumatic and Autoimmune Disease Friday, September 11, 1998
Location: NIH Campus, Bethesda, MD
Contact: Ms. Joanne Odenkirchen(301) 594-5055
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
How rare is autoimmune polyglandular syndrome type 1? See answer