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) |
| Celiac disease | Frequent (present in 30%-79% of cases) |
| Chronic atrophic gastritis | Frequent (present in 30%-79% of cases) |
| Exaggerated cellular immune processes | Frequent (present in 30%-79% of cases) |
| Graves disease | Frequent (present in 30%-79% of cases) |
| Hashimoto thyroiditis | Frequent (present in 30%-79% of cases) |
| Macrocytic |
Frequent (present in 30%-79% of cases) |
| Type I |
Frequent (present in 30%-79% of cases) |
| Alopecia | Occasional (present in 5%-29% of cases) |
| Anterior pituitary dysgenesis | Occasional (present in 5%-29% of cases) |
| Biliary cirrhosis | Occasional (present in 5%-29% of cases) |
| Decreased |
Occasional (present in 5%-29% of cases) |
| Leukopenia | Occasional (present in 5%-29% of cases) |
| Vitiligo | Occasional (present in 5%-29% of cases) |
| Abnormal blistering of the skin | Very rare (present in 1%-4% of cases) |
| Antiphospholipid antibody positivity | Very rare (present in 1%-4% of cases) |
| Aplasia/Hypoplasia of the spleen | Very rare (present in 1%-4% of cases) |
| Autoimmune hypoparathyroidism | Very rare (present in 1%-4% of cases) |
| Autoimmune |
Very rare (present in 1%-4% of cases) |
| Central diabetes insipidus | Very rare (present in 1%-4% of cases) |
| Hepatitis | Very rare (present in 1%-4% of cases) |
| Hypergonadotropic |
Very rare (present in 1%-4% of cases) |
| Interstitial pulmonary abnormality | Very rare (present in 1%-4% of cases) |
| Iridocyclitis | Very rare (present in 1%-4% of cases) |
| Keratoconjunctivitis sicca | Very rare (present in 1%-4% of cases) |
| Non-caseating epithelioid |
Very rare (present in 1%-4% of cases) |
| Osteopenia | Very rare (present in 1%-4% of cases) |
| Rheumatoid |
Very rare (present in 1%-4% of cases) |
| Thymoma | Very rare (present in 1%-4% of cases) |
| Tubulointerstitial nephritis | Very rare (present in 1%-4% of cases) |
| Xerostomia | Very rare (present in 1%-4% of cases) |
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 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., 301-496-8364kastnerd@nih.gov
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
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