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Diseases

Genetic and Rare Diseases Information Center (GARD)

Multiple endocrine neoplasia type 2A


Other Names for this Disease
  • Sipple syndrome
  • MEN 2A
  • MEN-2A syndrome
  • Pheochromocytoma and amyloid producing medullary thyroid carcinoma
  • PTC syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 for patients and caregivers. 
  • 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.
  • 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 Multiple endocrine neoplasia type 2A. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Sipple syndrome
  • MEN 2A
  • MEN-2A syndrome
  • Pheochromocytoma and amyloid producing medullary thyroid carcinoma
  • PTC syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.