Multiple Endocrine Neoplasia, Type Iia (MEN2A)

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GARD: ¹⁹ 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: 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. 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. The condition is usually inherited in an autosomal dominant pattern. The features of this disorder are relatively consistent within any one family.

MalaCards based summary: Multiple Endocrine Neoplasia, Type Iia, also known as multiple endocrine neoplasia type 2a, is related to adrenal carcinoma and thyroid carcinoma, familial medullary. An important gene associated with Multiple Endocrine Neoplasia, Type Iia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signal Transduction and Neuroscience. The drugs Sorafenib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and colon, and related phenotypes are medullary thyroid carcinoma and hyperhidrosis

Orphanet ⁵⁸ Multiple endocrine neoplasia type 2a: A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.

Multiple endocrine neoplasia type 2: A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.

OMIM®: ⁵⁷ Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (162300), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001). For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (131100). (171400) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.

UniProtKB/Swiss-Prot: ⁷³ The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism.

Wikipedia: ⁷⁵ Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary... more...

Clinical features from OMIM®:

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