Orpha Number: 189439
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|
Enlarged adrenal glands
|30%-79% of people have these symptoms|
Tiredness[ more ]
Decreased activity of gonads
Abnormal susceptibility to fractures
Frequent broken bones
Increased bone fragility
Increased tendency to fractures[ more ]
Decreased body height
Small stature[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|5%-29% of people have these symptoms|
Muscle tissue disease
|Percent of people who have these symptoms is not available through HPO|
Excessive, persistent worry and fear
Easy bruising[ more ]
|Decreased circulating ACTH level||0002920|
|Increased circulating cortisol level||0003118|
Round back[ more ]
Cognitive decline, progressive
Progressive cognitive decline[ more ]
Age symptoms begin
|Paradoxical increased cortisol secretion on dexamethasone suppression test||0003466|
|Pigmented micronodular adrenocortical disease||0001580|
Round facial appearance
Round facial shape[ more ]
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.
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.
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.
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.