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Genetic and Rare Diseases Information Center (GARD)

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Multiple endocrine neoplasia type 2A


Other Names for this Disease
  • MEN 2A
  • MEN-2A syndrome
  • Pheochromocytoma and amyloid producing medullary thyroid carcinoma
  • PTC syndrome
  • Sipple syndrome
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Overview


Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene.[1] Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland).[2][3] Occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2A disease.[3] The condition is inherited in an autosomal dominant manner.[1]
Last updated: 2/11/2011

References

  1. Multiple endocrine neoplasia. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia. Accessed 2/11/2011.
  2. Moline J, Eng C. Multiple Endocrine Neoplasia Type 2. GeneReviews. 2010; http://www.ncbi.nlm.nih.gov/books/NBK1257/. Accessed 2/11/2011.
  3. Daly PA. Multiple Endocrine Neoplasia Syndromes. The Merck Manual of Medical Information, 2nd. Home Edition. 2008; http://www.merckmanuals.com/home/print/sec13/ch167/ch167a.html. Accessed 2/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Multiple endocrine neoplasia type 2A. This website is maintained by the National Library of Medicine.
  • 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. Click on the link to view the information.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Multiple endocrine neoplasia type 2A. Click on the link to view a sample search on this topic.