Multiple endocrine neoplasia type 2

Title

Other Names:

MEN2

Categories:

Endocrine Diseases

Summary Summary

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:^[1]

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.^[1]^[2] 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.^[1] The condition is usually inherited in an autosomal dominant pattern.^[2]

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.^[2]

Last updated: 9/2/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Medullary thyroid carcinoma		0002865
30%-79% of people have these symptoms
Anxiety	Excessive, persistent worry and fear	0000739
Cervical neoplasm		0032241
Diarrhea	Watery stool	0002014
Elevated calcitonin		0003528
Elevated urinary epinephrine		0003639
Elevated urinary norepinephrine		0003345
Elevated urinary vanillylmandelic acid		0011978
Headache	Headaches	0002315
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Hypertension associated with pheochromocytoma		0002640
Hypertensive crisis		0100735
Pallor		0000980
Palpitations	Missed heart beat Skipped heart beat [ more ]	0001962
Parathyroid hyperplasia	Enlarged parathyroid glands	0008208
Pheochromocytoma		0002666
Thyroid C cell hyperplasia		0011781
Thyroid nodule		0025388
5%-29% of people have these symptoms
Abdominal distention	Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ]	0003270
Abnormal tongue morphology		0030809
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Cervical lymphadenopathy	Swollen lymph nodes in the neck	0025289
Constipation		0002019
Cutaneous lichen amyloidosis		0032346
Disproportionate tall stature		0001519
Elevated circulating parathyroid hormone level		0003165
Ganglioneuromatosis		0025151
Hypercalcemia	High blood calcium levels Increased calcium in blood [ more ]	0003072
Hypercalciuria	Elevated urine calcium levels	0002150
Hyperlordosis	Prominent swayback	0003307
Kyphoscoliosis		0002751
Multiple mucosal neuromas		0031023
Muscle weakness	Muscular weakness	0001324
Neck pain		0030833
Neoplasm of the liver	Liver cancer Liver tumor [ more ]	0002896
Neoplasm of the lung	Lung tumor	0100526
Neoplasm of the skeletal system	Skeletal tumor	0010622
Nephrolithiasis	Kidney stones	0000787
Paraganglioma of head and neck		0002864
Parathyroid adenoma		0002897
Primary hyperparathyroidism		0008200
Prominent corneal nerve fibers		0010726
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
1%-4% of people have these symptoms
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Proximal amyotrophy	Wasting of muscles near the body	0007126
Reduced subcutaneous adipose tissue	Reduced fat tissue below the skin	0003758

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Last updated: 11/1/2020

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Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include MTC and Hirschsprung disease (see these terms). Visit the Orphanet disease page for more information.

Research Research

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 2. 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

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).

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Learn More 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

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 (GHR) contains information on Multiple endocrine neoplasia type 2. This website is maintained by the National Library of Medicine.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.

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.
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 2. Click on the link to view a sample search on this topic.

News & Events News & Events

News

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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.

Have a question? Contact a GARD Information Specialist.

References References

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.

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