The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of calcium-phosphate metabolism||90%|
|Abnormality of the cerebral vasculature||90%|
|Abnormality of the fingernails||90%|
|Opacification of the corneal stroma||90%|
|Primary adrenal insufficiency||90%|
|Abnormal hair quantity||7.5%|
|Hypopigmented skin patches||7.5%|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Chronic active hepatitis||-|
|Chronic atrophic gastritis||-|
|Chronic mucocutaneous candidiasis||-|
|Hypoplasia of dental enamel||-|
|Type I diabetes mellitus||-|
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.
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., email@example.com
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
How rare is autoimmune polyglandular syndrome type 1? See answer