The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Hematological neoplasm | 90% |
| Lymphadenopathy | 90% |
| Anorexia | 50% |
| Splenomegaly | 50% |
| Weight loss | 50% |
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.
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.
Advancing Symptom Clusters Research on Rare Cancers Wednesday, June 17, 2015
Location: NIH Neuroscience Building,
Bethesda,
MD
Description:
It is intended that the in-depth, interdisciplinary dialogue of this expert working group will formulate an emerging consensus on a working definition of symptom clusters and, specific gaps and opportunities that provide a foundation for a transformative strategic blueprint to guide future symptom cluster research in rare cancers. In addition, it is anticipated that workshop proceedings will inform a funding opportunity announcement.
Contact: Sue Marden, Ph.D.,(301) 496-9623,mardens@mail.nih.gov
Co-funding Institute(s): National Institute of Nursing Research, Office of Rare Diseases Research
Rare Tumors Initiative Symposium Strategies to Develop Therapies for Rare Tumors: Small Numbers, but Big Opportunities
Wednesday, June 17, 2015
Location: NIH Natcher Conference Center,
Bethesda,
MD
Description: The goals of this symposium are to increase communication and build networks between researchers working in rare tumors across NIH, and to get input from patient groups, industry, and the FDA on how to overcome the biggest hurdles in the development of therapies for rare tumors. The Rare Tumors Initiative at NCI, CCR will use this information to prioritize goals for the future and will prepare a white paper summary to help guide researchers worldwide.
Contact: Dr. Karlyne Reilly,(301) 846-7518, reillyk@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Overcoming Barriers to International Clinical Trials for Rare Cancers
Friday, December 10, 2010
Location:
Bethesda,
Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.
Contact: Jack Welch, M.D., Ph.D., jack.welch@nih.govjack.welch@nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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