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)|
|Elevated urinary catecholamines||Very frequent
(present in 80%-99% of cases)
|Neoplasm of the nervous system||Very frequent
(present in 80%-99% of cases)
|Abnormality of the thorax||-|
|Autosomal dominant inheritance||-|
|Elevated urinary dopamine||-|
|Elevated urinary homovanillic acid||-|
|Elevated urinary vanillylmandelic acid||-|
|Failure to thrive||-|
|Spinal cord compression||-|
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.
Learn more orphan products.
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.
The Tenth International Catecholamine Symposium (XICS)
Sunday, September 9, 2012 -
Thursday, September 13, 2012
Location: Ailomar Conference Grounds, Pacific Grove, CA
Description: The Tenth International Catecholamine Symposium (XICS) will emphasize integration of basic science with clinical pathophysiology, by a program centering on disease-oriented research about catecholamine systems. The goals of the XICS are to: disseminate the latest important basic scientific, disease-oriented, and patient-oriented medical advances about catecholamines; foster interactions among basic scientists, disease-oriented researchers, and clinical investigators, via common interests in catecholamine systems; emphasize integrative approaches for understanding the roles of catecholamines in cellular, organ, systemic, and organismic integrity; comprehensively update research on catecholamines in rare and common disorders of development in pediatrics, regulation in adults, and degeneration in the elderly; and foster synthesis of molecular genetics with integrative physiology and pathophysiology, based on evolving understanding of catecholamine systems.
Contact: Constantine Stratakis, M.D., NICHD(301) email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development, 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., firstname.lastname@example.org@nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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Could you tell me which site, database, or scientific reference I could look at to find the most recent data on neuroblastoma epidemiology; in particular the prevalence in the United States and Europe? See answer