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 |
---|---|---|
30%-79% of people have these symptoms | ||
Chest pain | 0100749 | |
Cough |
Coughing
|
0012735 |
Dyspnea |
Trouble breathing
|
0002094 |
Erythema nodosum | 0012219 | |
Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
Fever | 0001945 | |
Increased T |
0100828 | |
Joint swelling | 0001386 | |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
Low platelet count
|
0001873 | |
Uveitis | 0000554 | |
Weight loss | 0001824 | |
5%-29% of people have these symptoms | ||
Abnormal cardiac ventricular function | 0030872 | |
Abnormal liver parenchyma morphology | 0030146 | |
Abnormal reproductive system morphology | 0012243 | |
Abnormality of the gastrointestinal tract | 0011024 | |
Abnormality of the nasal mucosa |
Abnormality of mucosa of nose
Abnormality of mucous membrane of nose
Abnormality of nasal mucous membrane
[ more ]
|
0000433 |
Alopecia |
Hair loss
|
0001596 |
Blindness | 0000618 | |
Bone cyst |
Bone cysts
|
0012062 |
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Chylothorax | 0010310 | |
Dacryocystitis | 0000620 | |
Diabetes insipidus | 0000873 | |
Emphysema | 0002097 | |
Enlarged lacrimal glands |
Enlarged tear gland
|
0007734 |
Enlargement of parotid gland | 0011801 | |
Facial palsy |
Bell's palsy
|
0010628 |
0000501 | ||
Heart block | 0012722 | |
Hepatic failure |
Liver failure
|
0001399 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ]
|
0003072 |
Hypercalciuria |
Elevated urine calcium levels
|
0002150 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Increased CSF |
0002922 | |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Maculopapular exanthema | 0040186 | |
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
Nephrolithiasis |
Kidney stones
|
0000787 |
Optic neuropathy |
Damaged optic nerve
|
0001138 |
Parotitis | 0011850 | |
0009830 | ||
Pneumothorax |
Collapsed lung
|
0002107 |
Portal |
0001409 | |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Pulmonary fibrosis | 0002206 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
Scarring | 0100699 | |
Skin plaque | 0200035 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
Tubulointerstitial nephritis | 0001970 | |
Upper airway obstruction | 0002781 | |
Ventricular tachycardia | 0004756 | |
1%-4% of people have these symptoms | ||
Abnormality of the adrenal glands |
Adrenal abnormalities
|
0000834 |
Eosinophilia |
High blood eosinophil count
|
0001880 |
0001878 | ||
Hemoptysis |
Coughing up blood
|
0002105 |
Hyperthyroidism |
Overactive thyroid
|
0000836 |
Hypothermia |
Abnormally low body temperature
|
0002045 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal salivary gland morphology |
Abnormality of the salivary glands
|
0010286 |
Abnormality of T cell physiology | 0011840 | |
Anorexia | 0002039 | |
Joint inflammation
|
0001369 | |
0000006 | ||
Blurred vision | 0000622 | |
Chorioretinitis | 0012424 | |
Elevated |
High ESR
|
0003565 |
Epiphora |
Increased tears
Tearing
Watery eyes
[ more ]
|
0009926 |
Generalized lymphadenopathy |
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body
[ more ]
|
0008940 |
Increased circulating |
0010702 | |
Inflammation of the large intestine | 0002037 | |
Interstitial pulmonary abnormality |
Abnormality in area between air sacs in lung
|
0006530 |
Iridocyclitis | 0001094 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
Sporadic |
No previous family history
|
0003745 |
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.
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.
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.