National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Glucocorticoid-remediable aldosteronism



Other Names:
Familial hyperaldosteronism type 1; Hyperaldosteronism, familial type 1; Dexamethasone sensitive hypertension; Familial hyperaldosteronism type 1; Hyperaldosteronism, familial type 1; Dexamethasone sensitive hypertension; Glucocorticoid sensitive hypertension See More
Categories:
This disease is grouped under:

Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.[1]
Last updated: 6/12/2015

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.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Dexamethasone-suppressible primary hyperaldosteronism 0011739
Hypertension 0000822
80%-99% of people have these symptoms
Abnormal circulating renin
Abnormal plasma renin
0040084
Adrenal hyperplasia
Enlarged adrenal glands
0008221
5%-29% of people have these symptoms
Caesarian section 0011410
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ]
0000421
Headache
Headaches
0002315
Hypokalemia
Low blood potassium levels
0002900
Intracranial hemorrhage
Bleeding within the skull
0002170
Muscle weakness
Muscular weakness
0001324
Nausea 0002018
Polydipsia
Extreme thirst
0001959
Preeclampsia 0100602
Secretory adrenocortical adenoma 0011746
Tinnitus
Ringing in ears
Ringing in the ears
[ more ]
0000360
Percent of people who have these symptoms is not available through HPO
Abnormality of the urinary system
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ]
0000079
Adrenogenital syndrome 0000840
Autosomal dominant inheritance 0000006
Decreased circulating renin level 0003351
Hyperaldosteronism
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production
[ more ]
0000859
Onset
Age symptoms begin
0003674
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Last updated: 7/1/2020

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.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The clinical presentation closely resembles that of the other familial forms of hyperaldosteronism (FH-II, FH-III; see these terms).
Visit the Orphanet disease page for more information.

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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Glucocorticoid-remediable aldosteronism. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Glucocorticoid-remediable aldosteronism:
    International Registry for Glucocorticoid-Remediable Aldosteronism
     

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.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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.


  1. Young, William and Kaplan, Norman. Familial hyperaldosteronism. UpToDate. May 6, 2014; http://www.uptodate.com/contents/familial-hyperaldosteronism. Accessed 6/12/2015.