Rare Endocrinology News

Disease Profile

Multiple endocrine neoplasia type 2

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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 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]

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 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

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

    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

          1. 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.
          2. Multiple endocrine neoplasia. Genetics Home Reference (GHR). August 2013; https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia. Accessed 9/2/2015.