" /> Multiple endocrine neoplasia, type iia - CISMeF





Preferred Label : Multiple endocrine neoplasia, type iia;

Symbol : MEN2A;

CISMeF acronym : MEN2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pheochromocytoma and amyloid-producing medullary thyroid carcinoma; Ptc syndrome; Sipple syndrome;

Included titles and symbols : Thyroid carcinoma, familial medullary;

Description : Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenomas. For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (131100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the RET protoncogene (RET, 1645761.0001);

Neoplasia : Pheochromocytoma; Medullary thyroid carcinoma; Parathyroid adenoma;

Laboratory abnormalities : Increased urinary epinephrine; Elevated calcitonin; Pentagastrin stimulation test;

Prefixed ID : #171400;

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27/07/2025


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