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
Diarrhea	Watery stool	0002014
Medullary thyroid carcinoma		0002865
30%-79% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Abnormal eyelid morphology	Abnormality of the eyelid Abnormality of the eyelids [ more ]	0000492
Abnormal oral mucosa morphology	Abnormality of lining of mouth	0011830
Abnormality of the tongue	Abnormal tongue Tongue abnormality [ more ]	0000157
Adrenal hyperplasia	Enlarged adrenal glands	0008221
Anxiety	Excessive, persistent worry and fear	0000739
Constipation		0002019
Depressivity	Depression	0000716
Diabetes mellitus		0000819
Dry skin		0000958
Fatigue	Tired Tiredness [ more ]	0012378
Hypertensive crisis		0100735
Hypotension	Low blood pressure	0002615
Irregular hyperpigmentation		0007400
Lymphadenopathy	Swollen lymph nodes	0002716
Myopathy	Muscle tissue disease	0003198
Neoplasm of the adrenal gland		0100631
Pheochromocytoma		0002666
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
5%-29% of people have these symptoms
Abnormality of temperature regulation	Poor temperature regulation	0004370
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Anorexia		0002039
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Benign neoplasm of the central nervous system		0100835
Bone pain		0002653
Cleft palate	Cleft roof of mouth	0000175
Corneal dystrophy		0001131
Dehydration		0001944
Ganglioneuroma		0003005
Hypercalcemia	High blood calcium levels Increased calcium in blood [ more ]	0003072
Hyperlordosis	Prominent swayback	0003307
Hyperparathyroidism	Elevated blood parathyroid hormone level	0000843
Intestinal obstruction	Bowel obstruction Intestinal blockage [ more ]	0005214
Intestinal polyposis		0200008
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
Kyphosis	Hunched back Round back [ more ]	0002808
Multiple cafe-au-lait spots		0007565
Multiple lipomas	Multiple fatty lumps	0001012
Muscle weakness	Muscular weakness	0001324
Muscular hypotonia	Low or weak muscle tone	0001252
Nausea and vomiting		0002017
Nephrolithiasis	Kidney stones	0000787
Pallor		0000980
Paresthesia	Pins and needles feeling Tingling [ more ]	0003401
Patellar aplasia	Absent kneecap	0006443
Pectus excavatum	Funnel chest	0000767
Pedal edema	Fluid accumulation in lower limbs Lower leg swelling [ more ]	0010741
Pes cavus	High-arched foot	0001761
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Reduced consciousness/confusion	Disturbances of consciousness Lowered consciousness [ more ]	0004372
Scoliosis	Abnormal curving of the spine	0002650
Skin rash		0000988
Slender long bone	Long bones slender Thin long bones [ more ]	0003100
Tall stature	Increased body height	0000098
Tremor	Tremors	0001337
Weight loss		0001824

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Last updated: 5/1/2019

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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).

Do you know of an organization? We want to hear from you.

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

Genetics Home Reference (GHR) contains information on Multiple endocrine neoplasia type 2. 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.

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

GARD Answers GARD Answers

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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