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||
|100% of people have these symptoms|
|Decreased circulating cortisol level||0008163|
|80%-99% of people have these symptoms|
|Failure to thrive||
|Hyperpigmentation of the skin||
Patchy darkened skin
|Increased circulating ACTH level||
High blood corticotropin levels
|Nausea and vomiting||0002017|
|30%-79% of people have these symptoms|
|Decreased circulating aldosterone level||0004319|
|Decreased urinary potassium||0012364|
Elevated serum potassium levels
|Hyperkalemic metabolic acidosis||0005976|
High blood uric acid level
Low blood sodium levels
|Increased circulating renin level||0000848|
|Renal salt wasting||0000127|
|5%-29% of people have these symptoms|
Small adrenal glands
|Decreased female libido||
Decreased female sex drive
Delayed pubertal development
Delayed pubertal growth
|Generalized bone demineralization||0006462|
High blood calcium levels
Increased calcium in blood
Low blood sugar
|Premature ovarian insufficiency||
|Sparse axillary hair||0002215|
Type 1 diabetes
Type I diabetes
Blotchy loss of skin color
|1%-4% of people have these symptoms|
|Primary testicular failure||0008720|
|Thiamine-responsive megaloblastic anemia||0004860|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
|Abnormality of the cardiovascular system||
|Feeding difficulties in infancy||0008872|
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.
International Adrenal Cortex Conference “Adrenal 2010”
Wednesday, June 16, 2010 -
Friday, June 18, 2010
Location: San Diego, California
Description: This conference provided a forum for both new and established investigators to present their most recent work, highlighting new findings relevant to adrenal physiology, biochemistry and molecular biology, genetics, and medicine. It was anticipated that these discoveries would provide a framework for further understanding of the function of the adrenal gland and its contributions to health and disease.
Contact: Maria L. Dufau, M.D., Ph.D., email@example.com 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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