GTR Home > Conditions/Phenotypes > Multiple endocrine neoplasia, type 2a

Disease characteristics

Excerpted from the GeneReview: Multiple Endocrine Neoplasia Type 2
Multiple endocrine neoplasia type 2 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All three subtypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B have an increased risk for pheochromocytoma; MEN 2A has an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN 2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and an asthenic ‘marfanoid’ body habitus. MTC typically occurs in early childhood in MEN 2B, early adulthood in MEN 2A, and middle age in FMTC.

Associated genes

  • Also known as: CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1, RET51, RET
    Summary: ret proto-oncogene

Clinical features

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  • Hypertension
  • Elevated urinary epinephrine
  • Elevated calcitonin
  • Hyperparathyroidism
  • Abnormality of the integument
  • Hypercortisolism
  • Aganglionic megacolon
  • Pheochromocytoma
  • Medullary thyroid carcinoma
  • Parathyroid adenoma
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Go to complete MedGen record for Multiple endocrine neoplasia, type 2a

Clinical resources

Practice guidelines

  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • ATA, 2009
    Medullary thyroid cancer: management guidelines of the American Thyroid Association.
  • Intl, 2001
    Guidelines for diagnosis and therapy of MEN type 1 and type 2.
  • Int'l RET Mutation Consortium, 1996
    The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
  • EuroGenetest, 2011
    Clinical utility gene card for: multiple endocrine neoplasia type 2.

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