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Concept information

Terme préférentiel

Multiple Endocrine Neoplasia Type 2a  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

  • MEA 2a
  • MEA II
  • MEA IIa
  • MEN 2
  • MEN 2a
  • MEN2a
  • MEN-2A Syndrome
  • MEN II
  • MEN IIa
  • 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
  • Sipple Syndrome

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-WS3K33VK-R

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RDF/XML TURTLE JSON-LD Date de création 23/05/1994, dernière modification le 03/07/2012