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 | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ]
|
0002027 |
Diarrhea |
Watery stool
|
0002014 |
Elevated C-reactive |
0011227 | |
Elevated |
High ESR
|
0003565 |
Erysipelas | 0001055 | |
Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
Pericarditis |
Swelling or irritation of membrane around heart
|
0001701 |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
|
0001954 |
Skin rash | 0000988 | |
30%-79% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Constipation | 0002019 | |
Erythema | 0010783 | |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ]
|
0005214 |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
|
0001974 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Orchitis |
Inflammation of testicles
|
0100796 |
Pleuritis |
Inflammation of tissues lining lungs and chest
|
0002102 |
Splenomegaly |
Increased spleen size
|
0001744 |
Vomiting |
Throwing up
|
0002013 |
5%-29% of people have these symptoms | ||
Abnormal myocardium morphology | 0001637 | |
Abnormality of the sacroiliac joint | 0100781 | |
Arthralgia |
Joint pain
|
0002829 |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
Cellulitis |
Bacterial infection of skin
Skin infection
[ more ]
|
0100658 |
Chest pain | 0100749 | |
Conjunctivitis |
Pink eye
|
0000509 |
Cranial nerve paralysis | 0006824 | |
Fasciitis |
Inflammation of the fascia
|
0100537 |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
|
0002076 |
Myositis |
Muscle inflammation
|
0100614 |
Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
Periorbital edema | 0100539 | |
Peritonitis | 0002586 | |
Recurrent pharyngitis |
Recurrent sore throat
|
0100776 |
Uveitis | 0000554 | |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
Vertigo |
Dizzy spell
|
0002321 |
Percent of people who have these symptoms is not available through HPO | ||
Amyloidosis | 0011034 | |
0000006 | ||
Conjunctival hyperemia | 0030953 | |
Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
Hepatic amyloidosis | 0012280 | |
Muscle stiffness | 0003552 |
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
|
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Differential diagnosis includes other diseases characterized by periodic fever such as familial cold urticaria, juvenile idiopathic arthritis, Behçet disease, PFAPA syndrome, and Muckle-Wells syndrome (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.