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|
Pain in stomach
Stomach pain[ more ]
Increased body temperature, episodic
Intermittent fever[ more ]
|Increased IgA level||0003261|
Swollen lymph nodes
Muscle pain[ more ]
|30%-79% of people have these symptoms|
Intermittent migraine headaches
Migraine headaches[ more ]
|Recurrent aphthous stomatitis||
Recurrent canker sores
Inflammation of blood vessel
|5%-29% of people have these symptoms|
Persistent blue color of hands, feet, or parts of face
Retarded growth[ more ]
Intestinal blockage[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
Red or purple spots on the skin
|Percent of people who have these symptoms is not available through HPO|
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
Increased blood neutrophil counts
Poor night vision[ more ]
|Optic disc pallor||0000543|
Increased spleen size
In 2015, a group of experts from different countries proposed recommendations for the management of several anti-inflammatory diseases including hyper IgD
In selected cases with severe disease that does not improve, and poor quality of life, referral to a specialist center for consideration of allogeneic hematopoietic stem cell transplantation is recommended.
Consultations with the following specialists may be helpful:
Learn more orphan products.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Mevalonic aciduria (MVA; see this term) is also caused by a mutation in the MVK gene, but it results in a nearly complete MVK deficiency. Other autoinflammatory disorders like familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Muckle-Wells syndrome (see these terms) should be eliminated. In children, the clinical picture of HIDS can be indistinguishable from periodic fever aphtosis pharyngitis adenitis (PFAPA) syndrome.
Visit the Orphanet disease page for more information.
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.
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
Are there certain foods that can trigger a flare up of hyper IgD syndrome? See answer
Can you please provide me with general information about hyper IgD syndrome? See answer