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 | ||
| Purpura | 0000979 | |
| Thin skin | 0000963 | |
| Venous thrombosis |
Blood clot in vein
|
0004936 |
| 5%-29% of people have these symptoms | ||
| Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
| Abnormality of the cerebral vasculature |
Abnormality of the cerebral blood vessels
|
0100659 |
| Gangrene | 0100758 | |
| Pulmonary embolism | 0002204 | |
| Venous insufficiency | 0005293 | |
| Warfarin-induced skin necrosis | 0001038 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Deep venous thrombosis |
Blood clot in a deep vein
|
0002625 |
| Global |
0001263 | |
| Hypercoagulability | 0100724 | |
| Reduced |
0005543 | |
|
Seizure
|
0001250 | |
| Superficial thrombophlebitis | 0002638 | |
| 0003828 | ||
| Vitreous hemorrhage | 0007902 | |
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
|
|---|
|
Differential diagnoses include other inherited thrombophilias including antithrombin and protein S deficiencies (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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