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 | ||
| Prolonged bleeding time | 0003010 | |
| Spontaneous, recurrent epistaxis |
Recurring nosebleed
Spontaneous, recurrent nosebleed
[ more ]
|
0004406 |
| 30%-79% of people have these symptoms | ||
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
| Gingival bleeding |
Bleeding gums
|
0000225 |
| Prolonged bleeding after surgery |
Excessive bleeding during surgery
Protracted bleeding after surgery
[ more ]
|
0004846 |
| Prolonged bleeding following circumcision | 0030137 | |
| 5%-29% of people have these symptoms | ||
| Ecchymosis | 0031364 | |
| Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
| Macroscopic hematuria |
Bloody urine
|
0012587 |
| Menometrorrhagia | 0400008 | |
| Menorrhagia |
Abnormally heavy bleeding during menstruation
|
0000132 |
| Spontaneous hematomas | 0007420 | |
| 1%-4% of people have these symptoms | ||
| Impaired ristocetin-induced platelet aggregation | 0011871 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Decreased platelet glycoprotein IIb-IIIa | 0001975 | |
| Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ]
|
0000421 |
| Impaired clot retraction | 0031126 | |
| Impaired platelet aggregation | 0003540 | |
| Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
| Purpura |
Red or purple spots on the skin
|
0000979 |
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.
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.
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.
