Multiple Endocrine Neoplasia Type 2a
Synonyms
MEA 2a
MEA II
MEA IIa
MEN 2
MEN 2A Syndrome
MEN 2a
MEN II
MEN IIa
MEN-2A Syndrome
MEN-2A Syndromes
MEN2a
Multiple Endocrine Neoplasia Type 2
Multiple Endocrine Neoplasia, Type IIa
Multiple Endocrine Neoplasms Type 2a
Neoplasia, Multiple Endocrine Type 2a
Neoplasms, Multiple Endocrine Type 2a
Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
Sipple Syndrome
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.