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Disease Profile
Multiple endocrine neoplasia type 2B
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
D44.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
MEN 2B; Mucosal neuroma syndrome; Multiple endocrine neoplasia, type 3 (formerly);
Categories
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;
Summary
Multiple endocrine neoplasia type 2B (MEN2B) is a genetic disease in which one or more of the endocrine glands are overactive and form a
MEN2B is caused by a specific genetic change (
There is another type of multiple endocrine neoplasia type 2 that causes an increased risk for medullary thyroid carcinoma and pheochromocytomas. This disease is known as multiple endocrine neoplasia type 2A (MEN2A).
Symptoms
Pheochromocytomas are typically not cancerous (they are usually benign), but they can cause other health problems such as
MEN2B can also cause changes in the skin. People with MEN2B may have lumps and bumps on the lips, eyelids, and tongue. They also may have eyelids and lips that appear thicker than in most people. Children with MEN2B may not have tears when they cry.[3] Some people with MEN2B have growths that can form in the gastrointestinal tract called ganglioneuromas. These growths can cause signs and symptoms including diarrhea or constipation and may present as early as infancy.[4] People with MEN2B are often tall and may have long fingers, toes, arms, and legs (marfanoid habitus). They may have hyperflexible joints, especially during childhood.[1][2]
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
0000006 | ||
Colonic diverticula | 0002253 | |
Constipation | 0002019 | |
Diarrhea |
Watery stool
|
0002014 |
Disproportionate tall stature | 0001519 | |
Elevated calcitonin | 0003528 | |
Elevated urinary epinephrine | 0003639 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Flushing | 0031284 | |
Ganglioneuroma | 0003005 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Medullary thyroid carcinoma | 0002865 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Myopathy |
Muscle tissue disease
|
0003198 |
Nodular goiter | 0005994 | |
Parathyroid hyperplasia |
Enlarged parathyroid glands
|
0008208 |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes cavus |
High-arched foot
|
0001761 |
Pheochromocytoma | 0002666 | |
Proximal femoral epiphysiolysis |
Slipped end part of innermost thighbone
|
0006461 |
0002650 | ||
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
Cause
About 95% of people who have MEN2B have a pathogenic variant in one particular area of the RET gene known as
Diagnosis
Treatment
After the thyroid is removed, a person with MEN2B may still have tests to make sure a medullary thyroid carcinoma did not develop and spread before the thyroid was removed.[2] If the medullary thyroid carcinoma cannot be completely removed, there are therapies available such as tyrosine kinase inhibitors. These therapies can slow the growth of medullary thyroid carcinomas.[5] People who have thyroidectomies need to take medications that contain the
People with MEN2B may also be recommended to have frequent tests such as analysis of the blood or urine for signs that there may be a
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: https://amensupport.org/contact%20us
Website: https://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: [email protected]
Website: https://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).
Organizations Providing General Support
-
Rare Cancers Australia
PO Box 440
Bowral New South Wales, 2576 Australia
Telephone: +61 2 4862 276
E-mail: [email protected]
Website: https://rarecancers.org.au/
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.
References
- Brandi ML. Multiple endocrine neoplasia type 2B. Orphanet. April 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709.
- Hughes MS, Feliberti E, Perry RR, and Vinik A. Multiple Endocrine Neoplasia Type 2A (including Familial Medullary Carcinoma) and Type 2B. Endotext. October 8, 2017; https://www.ncbi.nlm.nih.gov/books/NBK481898/.
- Lee R, Hyer J, Chowdhury H, and Teimory M. Ocular signs of multiple endocrine neoplasia type 2B (MEN2B). The Journal of Clinical Endocrinology and Metabolism. March 2012; 97(3):725-726. https://www.ncbi.nlm.nih.gov/pubmed/22238409.
- Multiple Endocrine Neoplasia, Type IIB; MEN2B. Online Mendelian Inheritance in Man. October 13, 2016; https://www.omim.org/entry/162300.
- Grey J and Winter K. Patient quality of life and prognosis in multiple endocrine neoplasia type 2. Endocrine-related Cancer. February 2018; 25(2):T69-T77. https://www.ncbi.nlm.nih.gov/pubmed/29066504.
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