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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Multiple Endocrine Neoplasia > Multiple Endocrine Neoplasia Type 2b
Neoplasms > Neoplastic Syndromes, Hereditary > Multiple Endocrine Neoplasia > Multiple Endocrine Neoplasia Type 2b
Endocrine System Diseases > Endocrine Gland Neoplasms > Multiple Endocrine Neoplasia > Multiple Endocrine Neoplasia Type 2b
Neoplasms > Neoplasms by Site > Endocrine Gland Neoplasms > Multiple Endocrine Neoplasia > Multiple Endocrine Neoplasia Type 2b
Neoplasms > Neoplasms, Multiple Primary > Multiple Endocrine Neoplasia > Multiple Endocrine Neoplasia Type 2b

Terme préférentiel

Multiple Endocrine Neoplasia Type 2b  

Type

  • mesh:Descriptor

Définition

  • Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.

Concept générique

Concepts associés

Synonyme(s)

  • MEA 2b
  • MEA IIb
  • MEN 2b
  • MEN2b
  • MEN 3
  • MEN IIb
  • MEN III
  • Mucosal Neuroma Syndrome
  • Multiple Endocrine Neoplasia, Type 2b
  • Multiple Endocrine Neoplasia, Type IIb
  • Multiple Endocrine Neoplasms Type 2b
  • Neoplasia, Multiple Endocrine Type 2b
  • Neoplasms, Multiple Endocrine Type 2b
  • Neuromata, Mucosal, With Endocrine Tumors
  • Wagenmann-Froboese Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-CJJN6M5M-Q

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