Rare Pediatrics News

Disease Profile

Graves disease

Prevalence
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.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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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.

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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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.

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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.

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Not applicable

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Other names (AKA)

Basedow disease; Exophthalmic goiter; Parry disease;

Categories

Endocrine Diseases

Summary

Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by the immune system mistakenly attacking the thyroid gland, causing the gland to produce too much thyroid hormone. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may occur at any age and can affect males as well.[1][2]

More common signs and symptoms of hyperthyroidism due to Graves' disease include irritability, a fast and irregular heartbeat, hand tremors, diarrhea, increased sweating, trouble sleeping, and weight loss. Some people develop abnormal enlargement of the thyroid gland (goiter). Women with Graves' disease may have irregular menstrual periods. In some cases, Graves' disease causes other problems such as Graves’ dermopathy (a condition marked by red, swollen skin), various eye abnormalities (such as bulging eyes, vision problems, pain, or swelling), emotional or behavioral changes, heart-related complications, or bone problems (such as osteoporosis).[2][3][4][5]

Treatment for hyperthyroidism and its symptoms may include radioiodine therapy, antithyroid drugs, and/or thyroid surgery.[2] Most people eventually develop hypothyroidism after treatment for hyperthryoidism; this is treated with a daily synthetic thyroid hormone pill.[4] Graves' dermopathy may be treated with corticosteroids and/or compression wraps.[6] Eye problems may not improve after thyroid treatment and may be treated separately with eyedrops, rituximab, or rarely, surgery or radiation therapy.[1][2]

Symptoms

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
Percent of people who have these symptoms is not available through HPO
Abnormal abdomen morphology
Abnormality of abdomen structure
0001438
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality

[ more ]

0001939
Autosomal recessive inheritance
0000007
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Goiter
Enlarged thyroid gland in neck
0000853
Graves disease
0100647
Hyperactivity
More active than typical
0000752
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Hyperreflexia
Increased reflexes
0001347
Irritability
Irritable
0000737
Muscle weakness
Muscular weakness
0001324
Onycholysis
Detachment of nail
0001806
Polyphagia
Voracious appetite
0002591
Pretibial myxedema
0200028
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Weight loss
0001824

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

    Organizations Providing General Support

      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

      • MayoClinic.com has an information page on Graves 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.
      • Genetics Home Reference contains information on Graves disease. This website is maintained by the National Library of Medicine.
      • The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the 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.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          Graves disease
          Pediatric Graves 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. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Graves disease. Click on the link to view a sample search on this topic.

          References

          1. Wisse B. Graves disease. MedlinePlus. February 3, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000358.htm.
          2. Graves' Disease. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). September, 2017; https://www.niddk.nih.gov/health-information/endocrine-diseases/graves-disease. Accessed 4/21/2015.
          3. Graves disease. Genetics Home Reference (GHR). July, 2013; https://ghr.nlm.nih.gov/condition/graves-disease.
          4. Graves' disease. American Thyroid Association. https://www.thyroid.org/graves-disease/. Accessed 4/16/2018.
          5. About Graves' Disease. Graves' Disease & Thyroid Foundation (GDATF). https://www.gdatf.org/about/about-graves-disease/. Accessed 4/16/2018.
          6. Gill RS. Pretibial Myxedema. Medscape Reference. February 2, 2016; https://emedicine.medscape.com/article/1103765-overview.