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neoplázia endokrinná mnohopočetná, typ 2a

  1. Subject h.neoplázia endokrinná mnohopočetná, typ 2a
    Subject h.Multiple Endocrine Neoplasia Type 2a
    Entry termsMEN2a
    MEN 2
    MEN 2a
    nádory endokrinné mnohopočetné, typ 2a
    Sippleov syndróm
    English X referencesMEN 2
    MEN 2a
    Neoplasia, Multiple Endocrine Type 2a
    Neoplasms, Multiple Endocrine Type 2a
    Sipple Syndrome
    Scope note in EnglishA 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.
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    (2) - MeSH descriptor
    (5) - CiBaMed
    (2) - BOOKS
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Number of the records: 1  

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