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  3. Multiple endocrine neoplasia type 2A
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Multiple endocrine neoplasia type 2A


Title


Other Names:
Sipple syndrome; MEN 2A; MEN-2A syndrome; Sipple syndrome; MEN 2A; MEN-2A syndrome; Pheochromocytoma and amyloid producing medullary thyroid carcinoma; PTC syndrome See More
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Hereditary Cancer Syndromes; Rare Cancers See More

Summary Summary


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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

Symptoms Symptoms


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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.

Showing of 11 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the integument 0001574
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Autosomal dominant inheritance 0000006
Elevated calcitonin 0003528
Elevated urinary epinephrine 0003639
Hyperparathyroidism
Elevated blood parathyroid hormone level
0000843
Hypertension 0000822
Increased circulating cortisol level 0003118
Medullary thyroid carcinoma 0002865
Parathyroid adenoma 0002897
Pheochromocytoma 0002666
Showing of 11 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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Multiple endocrine neoplasia type 2A (MEN 2A) is inherited in an autosomal dominant pattern. A person with MEN 2A often inherits the altered RET gene from one parent with the condition.[1]  
Last updated: 2/11/2011

Treatment Treatment


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FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Iobenguane I 123 (Brand name: Adreview™) - Manufactured by GE Healthcare, Inc
    FDA-approved indication: To be used in the detection of primary or metastatic pheochromocytomas or neuroblastomas as an adjunct to other diagnostic tests
    National Library of Medicine Drug Information Portal
  • Iobenguane I 131 (Brand name: Azedra) - Manufactured by Progenics Pharmaceuticals, Inc.
    FDA-approved indication: July 2018, iobenguane I 131 (Azedra) was approved for the treatment of adult and pediatric patients 12 years and older with iobenguane scan positive, unresectable, locally advanced or metastatic pheochromocytoma or paraganglioma who require systemic anticancer therapy.
    National Library of Medicine Drug Information Portal

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Multiple endocrine neoplasia type 2A. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


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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

  • American Multiple Endocrine Neoplasia Support
    1027 Hampshire Drive
    Maryville, TN 37801
    Telephone: 865-238-5842
    E-mail: http://amensupport.org/contact%20us
    Website: http://www.amensupport.org/
  • Association for Multiple Endocrine Neoplasia Disorders (AMEND) (UK, New Zealand, and USA)
    The Warehouse
    No 1 Draper Street
    Southborough
    Tunbridge Wells Kent TN4 0PG
    United Kingdom
    Telephone: + 44 (0)1892 516076
    E-mail: info@amend.org.uk
    Website: http://www.amend.org.uk

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

  • 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

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How rare is multiple endocrine neoplasia type 2A? How is this condition inherited? See answer


Have a question? Contact a GARD Information Specialist.

References 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.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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