Multiple Endocrine Neoplasia Type 2a
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.
Year introduced: 1995
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Subheadings:
Tree Number(s): C04.588.322.400.505, C04.651.600.505, C04.700.630.505, C16.320.700.630.505, C19.344.400.505
MeSH Unique ID: D018813
Entry Terms:
- MEA 2a
- MEA II
- Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
- Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
- Sipple Syndrome
- Multiple Endocrine Neoplasia, Type IIa
- MEA IIa
- MEN 2
- MEN 2a
- MEN II
- MEN IIa
- MEN-2A Syndrome
- MEN 2A Syndrome
- MEN-2A Syndromes
- MEN2a
- Multiple Endocrine Neoplasia Type 2
- Multiple Endocrine Neoplasms Type 2a
- Neoplasia, Multiple Endocrine Type 2a
- Neoplasms, Multiple Endocrine Type 2a
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