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Disease Profile
Multiple endocrine neoplasia type 2
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.
1-9 / 100 000
Age of onset
Infancy
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)
MEN2
Categories
Endocrine Diseases
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
MEN2 is divided into three subtypes: type 2A, type 2B, and
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.
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 |
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 |
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 |
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 |
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 |
Reduced fat tissue below the skin
|
0003758 |
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.
|
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).
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.
References
- Chen YB, Zieve D. Multiple endocrine neoplasia (MEN) II. MedlinePlus. March 23, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000399.htm. Accessed 9/2/2015.
- Multiple endocrine neoplasia. Genetics Home Reference (GHR). August 2013; https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia. Accessed 9/2/2015.