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 | ||
| Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ]
|
0000421 |
| Telangiectasia of the skin | 0100585 | |
| 30%-79% of people have these symptoms | ||
| Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
| Cholecystitis |
Gallbladder inflammation
|
0001082 |
| Microcytic |
0001935 | |
| Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
|
0002076 |
| Portal |
0001409 | |
| Spontaneous hematomas | 0007420 | |
| Visceral angiomatosis | 0100761 | |
| 5%-29% of people have these symptoms | ||
| Amblyopia |
Lazy eye
Wandering eye
[ more ]
|
0000646 |
| Cerebral hemorrhage |
Bleeding in brain
|
0001342 |
| Cholelithiasis |
Gallstones
|
0001081 |
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Conjunctival telangiectasia |
Small dilated blood vessels near membrane covering front of eye and eyelids
|
0000524 |
| Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
| Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
| Hematuria |
Blood in urine
|
0000790 |
| Hemoptysis |
Coughing up blood
|
0002105 |
| Hepatic failure |
Liver failure
|
0001399 |
| Intestinal polyposis | 0200008 | |
| Nephrolithiasis |
Kidney stones
|
0000787 |
| Peripheral arteriovenous fistula | 0100784 | |
| Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
| Retinal telangiectasia | 0007763 | |
| 0001250 | ||
| Subarachnoid hemorrhage | 0002138 | |
| Transient ischemic attack |
Mini stroke
|
0002326 |
| Venous thrombosis |
Blood clot in vein
|
0004936 |
| Percent of people who have these symptoms is not available through HPO | ||
| Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
| 0000006 | ||
| Brain abscess | 0030049 | |
| Cerebral arteriovenous malformation | 0002408 | |
| Choriocapillaris atrophy | 0030491 | |
| Clubbing |
Clubbing of fingers and toes
|
0001217 |
| Cyanosis |
Blue discoloration of the skin
|
0000961 |
| Dyspnea |
Trouble breathing
|
0002094 |
| Fingerpad telangiectases |
Small dilated blood vessels in fingerpads
|
0006107 |
| Gastrointestinal angiodysplasia | 0000471 | |
| Gastrointestinal arteriovenous malformation | 0002629 | |
| Gastrointestinal telangiectasia |
Small, enlarged blood vessels near skin
|
0002604 |
| Hematemesis |
Vomitting blood
|
0002248 |
| Hematochezia |
Rectal bleeding
|
0002573 |
| Hepatic arteriovenous malformation | 0006574 | |
| Hypertension | 0000822 | |
| Ischemic stroke | 0002140 | |
| Lip telangiectasia | 0000214 | |
| Melena | 0002249 | |
| Nail bed telangiectasia | 0001232 | |
| Nasal mucosa telangiectasia |
Spider veins of mucosa of nose
Spider veins of mucous membrane of nose
Spider veins of nasal mucous membrane
[ more ]
|
0000434 |
| Palate telangiectasia |
Telangiectasia of the roof of the mouth
|
0002707 |
| Polycythemia |
Increased red blood cells
|
0001901 |
| Pulmonary arteriovenous malformation | 0006548 | |
| Right-to-left shunt | 0001694 | |
| Spinal arteriovenous malformation | 0002390 | |
| Spontaneous, recurrent epistaxis |
Recurring nosebleed
Spontaneous, recurrent nosebleed
[ more ]
|
0004406 |
| Tongue telangiectasia | 0000227 | |
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.
