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||
|Percent of people who have these symptoms is not available through HPO|
|Decreased CSF homovanillic acid||0003785|
|Feeding difficulties in infancy||0008872|
Acid reflux disease
Heartburn[ more ]
|Global developmental delay||0001263|
Sweating, increased[ more ]
Low blood pressure
Onset in first year of life
Onset in infancy[ more ]
Intermittent abnormally low body temperature
Pupillary constriction[ more ]
|Muscular hypotonia of the trunk||
Low muscle tone in trunk
Blockage of nose
Obstruction of nose
Stuffy nose[ more ]
Drooping upper eyelid
Trouble sleeping[ more ]
Gene therapy treatment for AADC deficiency seems promising in mice with the disease (
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 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) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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