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]
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]
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) |
| Diarrhea | Very frequent (present in 80%-99% of cases) |
| Medullary thyroid carcinoma | Very frequent (present in 80%-99% of cases) |
| Abnormality of oral mucosa | Frequent (present in 30%-79% of cases) |
| Abnormality of the eyelid | Frequent (present in 30%-79% of cases) |
| Abnormality of the tongue | Frequent (present in 30%-79% of cases) |
| Adrenal hyperplasia | Frequent (present in 30%-79% of cases) |
| Anxiety | Frequent (present in 30%-79% of cases) |
| Constipation | Frequent (present in 30%-79% of cases) |
| Depression | Frequent (present in 30%-79% of cases) |
| Diabetes mellitus | Frequent (present in 30%-79% of cases) |
| Dry skin | Frequent (present in 30%-79% of cases) |
| Fatigue | Frequent (present in 30%-79% of cases) |
| Hypertensive crisis | Frequent (present in 30%-79% of cases) |
| Hypotension | Frequent (present in 30%-79% of cases) |
| Irregular hyperpigmentation | Frequent (present in 30%-79% of cases) |
| Lymphadenopathy | Frequent (present in 30%-79% of cases) |
| Myopathy | Frequent (present in 30%-79% of cases) |
| Neoplasm of the adrenal gland | Frequent (present in 30%-79% of cases) |
| Pheochromocytoma | Frequent (present in 30%-79% of cases) |
| Thick lower lip vermilion | Frequent (present in 30%-79% of cases) |
| Abnormality of temperature regulation | Occasional (present in 5%-29% of cases) |
| Aganglionic megacolon | Occasional (present in 5%-29% of cases) |
| Anorexia | Occasional (present in 5%-29% of cases) |
| Arachnodactyly | Occasional (present in 5%-29% of cases) |
| Arrhythmia | Occasional (present in 5%-29% of cases) |
| Benign neoplasm of the central nervous system | Occasional (present in 5%-29% of cases) |
| Bone pain | Occasional (present in 5%-29% of cases) |
| Cleft palate | Occasional (present in 5%-29% of cases) |
| Corneal dystrophy | Occasional (present in 5%-29% of cases) |
| Dehydration | Occasional (present in 5%-29% of cases) |
| Edema of the lower limbs | Occasional (present in 5%-29% of cases) |
| Ganglioneuroma | Occasional (present in 5%-29% of cases) |
| Hypercalcemia | Occasional (present in 5%-29% of cases) |
| Hyperlordosis | Occasional (present in 5%-29% of cases) |
| Hyperparathyroidism | Occasional (present in 5%-29% of cases) |
| Intestinal obstruction | Occasional (present in 5%-29% of cases) |
| Intestinal polyposis | Occasional (present in 5%-29% of cases) |
| Joint hyperflexibility | Occasional (present in 5%-29% of cases) |
| Kyphosis | Occasional (present in 5%-29% of cases) |
| Multiple cafe-au-lait spots | Occasional (present in 5%-29% of cases) |
| Multiple lipomas | Occasional (present in 5%-29% of cases) |
| Muscular hypotonia | Occasional (present in 5%-29% of cases) |
| Nausea and vomiting | Occasional (present in 5%-29% of cases) |
| Nephrolithiasis | Occasional (present in 5%-29% of cases) |
| Pallor | Occasional (present in 5%-29% of cases) |
| Paresthesia | Occasional (present in 5%-29% of cases) |
| Patellar aplasia | Occasional (present in 5%-29% of cases) |
| Pectus excavatum | Occasional (present in 5%-29% of cases) |
| Pes cavus | Occasional (present in 5%-29% of cases) |
| Pruritus | Occasional (present in 5%-29% of cases) |
| Reduced consciousness/confusion | Occasional (present in 5%-29% of cases) |
| Scoliosis | Occasional (present in 5%-29% of cases) |
| Skin rash | Occasional (present in 5%-29% of cases) |
| Slender long bone | Occasional (present in 5%-29% of cases) |
| Tall stature | Occasional (present in 5%-29% of cases) |
| Tremor | Occasional (present in 5%-29% of cases) |
| Weight loss | Occasional (present in 5%-29% of cases) |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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.
