Rare Pediatrics News
Disease Profile
Addison’s disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
All ages
ICD-10
E27.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Addison disease; Adrenal hypoplasia; Hypoadrenocorticism familial;
Categories
Autoimmune / Autoinflammatory diseases; Congenital and Genetic Diseases; Endocrine Diseases;
Summary
Addison's disease occurs when the adrenal glands do not produce enough (or any) of the
Symptoms
Symptoms may include:[2][3][4]
- Fatigue
- Loss of appetite
- Abdominal pain
- Mood or behavior changes
- Dark patches of skin (hyperpigmentation)
- Muscle weakness or pain
- Dehydration
- Low blood pressure
Symptoms typically start in the late teens or early twenties. An acute adrenal crisis can develop in response to stress. This is a medical emergency which can lead to shock or kidney failure if not treated promptly. Symptoms of a crisis include sudden weakness, severe pain, vomiting, diarrhea, and low blood pressure which can lead to fainting. With treatment, this condition does not change over time and the symptoms can be managed.
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 |
Learn More:
HPO ID
|
---|---|---|
100% of people have these symptoms | ||
Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
80%-99% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Anorexia | 0002039 | |
Constipation | 0002019 | |
Diarrhea |
Watery stool
|
0002014 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
Muscle weakness |
Muscular weakness
|
0001324 |
Nausea and vomiting | 0002017 | |
Weight loss | 0001824 | |
30%-79% of people have these symptoms | ||
Androgen insufficiency | 0008226 | |
Decreased circulating aldosterone level |
Low blood aldosterone level
|
0004319 |
Decreased urinary potassium | 0012364 | |
Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
Hyperkalemic metabolic acidosis | 0005976 | |
Hyperuricemia |
High blood uric acid level
|
0002149 |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Increased circulating renin level |
Elevated blood renin level
|
0000848 |
Normocytic |
0001897 | |
Renal salt wasting |
Loss of salt in urine
|
0000127 |
5%-29% of people have these symptoms | ||
Adrenal calcification | 0010512 | |
Adrenal hypoplasia |
Small adrenal glands
|
0000835 |
Arthralgia |
Joint pain
|
0002829 |
Celiac disease | 0002608 | |
Decreased female libido |
Decreased female sex drive
|
0030018 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Dry skin | 0000958 | |
Generalized bone demineralization | 0006462 | |
Hashimoto thyroiditis | 0000872 | |
Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ] |
0003072 |
Low blood sugar
|
0001943 | |
Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 |
Orthostatic hypotension |
Decrease in blood pressure upon standing up
|
0001278 |
Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ] |
0008209 |
Salt craving | 0030083 | |
0001250 | ||
Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ] |
0002215 |
Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
Vertigo |
Dizzy spell
|
0002321 |
Vitiligo |
Blotchy loss of skin color
|
0001045 |
1%-4% of people have these symptoms | ||
Primary testicular failure | 0008720 | |
Thiamine-responsive megaloblastic anemia | 0004860 | |
Thymoma | 0100522 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 |
Adrenal insufficiency | 0000846 | |
Apnea | 0002104 | |
0000007 | ||
Cyanosis |
Blue discoloration of the skin
|
0000961 |
Feeding difficulties in infancy | 0008872 | |
Vomiting |
Throwing up
|
0002013 |
Cause
Treatment
Specialists involved in the care of someone with Addison's disease may include:
Endocrinologist - Radiologist
Immunologist
Related diseases
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
|
---|
Secondary adrenal insufficiency needs to be eliminated. Causes include pituitary tumors, lymphatic hypophystitis, pituitary tuberculosis and sarcoidosis, all of which are differential diagnoses. Infiltrative disorders and other causes of CPAI should be excluded and include tuberculosis (see this term), fungal infections and AIDS-associated opportunistic infections. Genetic disorders, tumors, and treatment with certain drugs are other less common causes of CPAI.
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Supporting this Disease
-
Adrenal Insufficiency United
Toll-free: 1-855-AIUnite (248-6483)
E-mail: [email protected]
Website: https://aiunited.org/ -
Hormone Health Network
Toll-free: 1-800-HORMONE (1-800-467-6663)
E-mail: [email protected]
Website: https://www.hormone.org -
National Adrenal Diseases Foundation (NADF)
P.O. Box 566
Lake Zurich, IL 60047
Telephone: +1-(847) 726-9010
E-mail: [email protected]
Website: https://www.nadf.us -
Pituitary Network Association
P.O. Box 1958
Thousand Oaks, CA 91358
Telephone: +1-805-499-9973
Fax: +1-805-480-0633
E-mail: [email protected]
Website: https://pituitary.org/
Organizations Providing General Support
-
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: [email protected]
Website: https://www.alextlc.org -
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
Learn more
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.
Where to Start
- Mayo Clinic has an information page on Addison's disease.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Adrenal Diseases Foundation provides information about Addison's disease.
- The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) offers information on this condition. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The The Cleveland Clinic Web site has an information page on Addison's disease. Click on the Cleveland Clinic link to view this page.
- You and Your Hormones, an education resource from the Society for Endocrinology, provides information about Addison's disease.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Addison's disease.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Addison's disease. Click on the link to view a sample search on this topic.
References
- Addison’s Disease. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/addisons-disease/#supporting-organizations.
- Barthel A, Benker G, Berens K, et al. An Update on Addison's disease. Exp Clin Endocrinol Diabetes. 2019; 127(2-03):165-175. https://pubmed.ncbi.nlm.nih.gov/30562824.
- Munir S, Waseem M. Addison Disease. StatPearls [Internet] Treasure Island (FL): StatPearls Publishing. July 2020; https://pubmed.ncbi.nlm.nih.gov/28723023.
- Betterle C, Presotto F, Furmaniak J. Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults. J Endocrinol Invest. 2019; 42(12):1407-1433. https://pubmed.ncbi.nlm.nih.gov/31321757.
- Betterle C, Garelli S, Presotto F, Furmaniak J. From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. Front Horm Res. 2016; 46:133-145.
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