Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2 (MEN2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. Endocrine glands most commonly involved include:
- Adrenal (about half the time)
- Parathyroid (20% of the time)
- Thyroid (almost all of the time)
MEN2 is caused by a defect in the RET gene. This defect causes many tumors to appear in the same person, but not necessarily at the same time. The adrenal tumor is called a pheochromocytoma, and the thyroid tumor is a medullary carcinoma of the thyroid. The condition is usually inherited in an autosomal dominant pattern.
MEN2 is divided into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors. The features of this disorder are relatively consistent within any one family.
- Chen YB, Zieve D. Multiple endocrine neoplasia (MEN) II. MedlinePlus. March 23, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000399.htm. Accessed 9/2/2015.
- Multiple endocrine neoplasia. Genetics Home Reference (GHR). August 2013; http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia. Accessed 9/2/2015.
- Genetics Home Reference (GHR) contains information on Multiple endocrine neoplasia type 2. This website is maintained by the National Library of Medicine.
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- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
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- 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.
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