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|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Painful or difficult urination
Tiredness[ more ]
Sweating, increased[ more ]
|Increased bone mineral density||
Increased bone density
Eyeballs bulging out
Protruding eyes[ more ]
Fatty deposits in skin around the eyes
Fatty deposits on eyelids[ more ]
|30%-79% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormal aortic valve morphology||0001646|
|5%-29% of people have these symptoms|
|Abnormal pericardium morphology||0001697|
|Congestive heart failure||
Heart failure[ more ]
Difficulty articulating speech
|Interstitial pulmonary abnormality||0006530|
|Nausea and vomiting||0002017|
Drooping upper eyelid
Renal failure in adulthood[ more ]
Loss of eyesight
Poor vision[ more ]
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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.
The Histiocytosis Association of America has created the Erdheim-Chester Disease (ECD) Registry to ease the difficulty in the diagnosis and treatment of ECD. For more information about this Registry, contact:
Christine Toughill, Outreach Coordinator
Histiocytosis Association of America
332 North Broadway
Pitman, NJ 08071
Phone: (856) 589-6606
Fax: (856) 589-6614
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
2015 Erdheim Chester Disease Medical Symposium
Thursday, October 8, 2015
Location: MD Anderson Cancer Center, Houston, TX
Description: The 3rd Annual International ECD Medical Symposium will be held at MD Anderson in Houston, Texas on October 8. Medical professionals from around the world will come together to share the latest research findings related to ECD, discuss the care of patients, and develop collaborations to further research. All medical professionals with interest in ECD and ECD patients are encouraged to register.
Erdheim-Chester Disease International Medical Symposium
Thursday, September 18, 2014 -
Thursday, September 18, 2014
Location: Building 45, NIH Campus, Bethesda, MD
Description: The goals of the symposium will be to facilitate collaboration among the international ECD medical community that will work toward: (1) Sharing knowledge across specialties, (2)Developing standard treatment protocols, and (3)Implementing cross-institutional scientific studies
Contact: Juvianne Estrada-Veras, M.D.,(301) email@example.com
Co-funding Institute(s): National Human Genome Research Institute, 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 causes Erdheim-Chester disease? See answer