MEN 2 - syndrom mnohočetné endokrinní neoplazie, jehož základní charakteristikou je medulární karcinom štítné žlázy. U MEN 2A (Sippleův syndrom) je přítomna primární hyperparatyreóza (klinicky obv. nepříliš výrazná) a méně často feochromocytom. Syndrom je autozomálně dominantně dědičný, postižena je oblast 10. chromozomu (RET protoonkogen) s částečnými odlišnostmi u varianty A a B. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )

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.

Anotace

coordinate IM with specific endocrine/neoplasm pre-coordinates (IM) + specific histological type (IM) if pertinent

DUI

D018813 MeSH Prohlížeč

CUI

M0028166

Předchozí užití

Multiple Endocrine Neoplasia (1966-1994)

Historická pozn.

95; MEA II, MEN II, & SIPPLE SYNDROME were see NEOPLASMS, MULTIPLE ENDOCRINE 1983-94

Online pozn.

use MULTIPLE ENDOCRINE NEOPLASIA to search MEA II, MEN II, & SIPPLE SYNDROME 1983-94

Veřejná pozn.

95; MEA II, MEN II, & SIPPLE SYNDROME were see NEOPLASMS, MULTIPLE ENDOCRINE 1983-94