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.

Also Known As:

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

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Multiple Endocrine Neoplasia: 504
    - Multiple Endocrine Neoplasia Type 2a: 1125
- Multiple Primary Neoplasms: 24
  - Multiple Endocrine Neoplasia: 504
    - Multiple Endocrine Neoplasia Type 2a: 1125
- Neoplasms by Site: 4
  - Endocrine Gland Neoplasms: 130
    - Multiple Endocrine Neoplasia: 504
      - Multiple Endocrine Neoplasia Type 2a: 1125
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Multiple Endocrine Neoplasia: 504
      - Multiple Endocrine Neoplasia Type 2a: 1125
Endocrine System Diseases: 968
- Endocrine Gland Neoplasms: 130
  - Multiple Endocrine Neoplasia: 504
    - Multiple Endocrine Neoplasia Type 2a: 1125

Maria Joao Bugalho Selected Research

Maria Joao Bugalho Research Topics

Disease

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