Multiple endocrine neoplasia type 2A

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Disease Overview

Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene.[3021] Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also at increased risk for parathyroid adenoma or hyperplasia (overgrowth of the parathyroid gland).[3022][3023] Occasionally an itchy skin condition called cutaneous lichen amyloidosis also occurs in people with type 2A disease.[3023] The condition is inherited in an autosomal dominant manner.[3021]


Synonyms

  • Sipple syndrome
  • MEN 2A
  • MEN-2A syndrome
  • Pheochromocytoma and amyloid producing medullary thyroid carcinoma
  • PTC syndrome

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National Organization for Rare Disorders