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 |
Acute leukemia | 0002488 | |
Angina pectoris | 0001681 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ]
|
0000421 |
Gingival bleeding |
Bleeding gums
|
0000225 |
Headache |
Headaches
|
0002315 |
Hepatomegaly |
Enlarged liver
|
0002240 |
0000822 | ||
Myelodysplasia | 0002863 | |
Myelofibrosis | 0011974 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ]
|
0000360 |
Vertigo |
Dizzy spell
|
0002321 |
Weight loss | 0001824 | |
30%-79% of people have these symptoms | ||
Arthralgia |
Joint pain
|
0002829 |
Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
5%-29% of people have these symptoms | ||
Arterial thrombosis |
Blood clot in artery
|
0004420 |
Budd-Chiari |
0002639 | |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Intermittent claudication | 0004417 | |
Portal hypertension | 0001409 | |
Portal vein thrombosis |
Blood clot in portal vein
|
0030242 |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
Stroke | 0001297 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal thrombosis |
Abnormal blood clot
|
0001977 |
0000006 | ||
Cerebral hemorrhage |
Bleeding in brain
|
0001342 |
Cerebral ischemia |
Disruption of blood oxygen supply to brain
|
0002637 |
Increased hematocrit | 0001899 | |
Increased hemoglobin | 0001900 | |
Increased megakaryocyte count | 0005513 | |
Increased red blood |
0001898 | |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
|
0001974 |
0001428 | ||
Sporadic |
No previous family history
|
0003745 |
Low platelet count
|
0001873 | |
Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
Thromboembolism | 0001907 |
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 diagnosis includes elimination of Ph1 negative myeloproliferative disease (MPD) including essential thrombocytosis and agnogenic myeloid metaplasia (see these terms). In patients with polyglobuly without JAK2 mutation, causes of congenital primary erythrocytosis and secondary erythrocytosis (see these terms) should be considered. In patients with PV associated with MPD in the same family, the diagnosis of familial predisposition to MPD must be considered.
Visit the
Orphanet disease page
for more information.
|
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.