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||
|80%-99% of people have these symptoms|
|Abnormal platelet morphology||
Abnormal shape of platelets
Blood clot in artery
|Increased megakaryocyte count||0005513|
Pins and needles feeling
Tingling[ more ]
|Prolonged bleeding time||0003010|
|Transient ischemic attack||
Blood clot in vein
|30%-79% of people have these symptoms|
Increased spleen size
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the skeletal system||
Skeletal anomalies[ more ]
|Impaired platelet aggregation||0003540|
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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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
The Jak/Stat Pathway: 20 Years from Discovery to Drugs
Thursday, September 22, 2011 -
Saturday, September 24, 2011
Location: NIH Natcher Center, Bethesda, MD
Description: As a scientific conference, the primary goal is the dissemination of recent data and developments in the field to intersted researchers in the field. The conference includes a scientific program and reception, which will help to foster collaboration and networking. Participants should achieve a better understanding of the state of the art research in this exciting and clinically relevant field.
Contact: Megan Laycock,(301) 594-7527Megan.email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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. Submit a new question
What are the chances of 2 people from the same family being diagnosed with essential thrombocythemia? Both my father and I have been diagnosed. I was under the impression it is not a genetic cancer. See answer
Is the use of Adderall®, Wellbutrin®, Xanax®, Zoloft®, Ambien®, or Deplin® associated with essential thrombocythemia? See answer
What was the oldest that live with the disorder? See answer