Multiple endocrine neoplasia type 2B

Title

Other Names:

MEN 2B; Mucosal neuroma syndrome; Multiple endocrine neoplasia, type 3 (formerly); MEN 2B; Mucosal neuroma syndrome; Multiple endocrine neoplasia, type 3 (formerly); Wagenmann-froboese syndrome See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Hereditary Cancer Syndromes; Metabolic disorders; Rare Cancers See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 247709

Disease definition

Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus.

Epidemiology

The exact prevalence of MEN2B is unknown but it accounts for 5 to 10% of all cases of MEN2 syndrome, providing estimated prevalence of 1/700,000 to 1/350,000.

Clinical description

Onset usually occurs earlier than MEN2A (see this term) and most frequently in infants and young children. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations of the disease due to ganglioneuromatosis of the gastrointestinal tract. Patients also exhibit mucosal neuromas of the lips, eyelids, and tongue, bumpy lips, and marfanoid habitus (with skeletal abnormalities and joint laxity). MEN2B has a higher mortality rate than MEN2A. Unlike MEN2A, MEN2B follows a more severe course and hyperparathyroidism is not found. Pheochromocytoma occurs in 50% of patients.

Etiology

A single mutation at codon 918 in the tyrosine kinase domain of the RET proto-oncogene (10q11.2) has been associated with the MEN2B phenotype.

Genetic counseling

Transmission is autosomal dominant.

Visit the Orphanet disease page for more resources.

Last updated: 4/17/2015

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the skin	-
Aganglionic megacolon	-
Autosomal dominant inheritance	-
Colonic diverticula	-
Constipation	-
Diarrhea	-
Disproportionate tall stature	-
Elevated calcitonin	-
Elevated urinary epinephrine	-
Failure to thrive in infancy	-
Ganglioneuroma	-
High, narrow palate	-
Hyperlordosis	-
Joint laxity	-
Kyphosis	-
Medullary thyroid carcinoma	-
Muscular hypotonia	-
Myopathy	-
Nodular goiter	-
Parathyroid hyperplasia	-
Pectus excavatum	-
Pes cavus	-
Pheochromocytoma	-
Proximal femoral epiphysiolysis	-
Scoliosis	-
Thick eyebrow	-
Thick lower lip vermilion	-

Last updated: 8/1/2017

Do you have updated information on this condition? Let us know.

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 studying or have studied Multiple endocrine neoplasia type 2B. 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
Toll-free: 866-612-8579
Telephone: 865-238-5842
E-mail: http://www.amensupport.org/contact-us/
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? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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.

In-Depth Information

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

News & Events News & Events

News

IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

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