Definition: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.
coordinate IM with specific endocrine/neoplasm pre-coordinates (IM) + specific histological type (IM) if pertinent
Other names MEN-2A Syndromes; MEN 2A Syndrome; Multiple Endocrine Neoplasms Type 2a; Multiple Endocrine Neoplasia Type 2; MEN2a; MEN-2A Syndrome; MEN IIa; MEN II; MEA IIa; MEA II; MEA 2a; Sipple Syndrome; Neoplasms, Multiple Endocrine Type 2a; Neoplasia, Multiple Endocrine Type 2a; MEN 2a; MEN 2
