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MEN2A

Multiple endocrine neoplasia type IIA (MEN2A) is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenomas.

Synopsis

- medullary thyroid carcinoma (MTC)
- bilateral pheochromocytomas
- primary hyperparathyroidism
- adrenal ganglioneuroma (15827098)

- Hirschsprung disease (digestive aganglionosis)
- cutaneous lichen amyloidosis
- Cushing syndrome
- hypertension
- C-cell hyperplasia
- parathyroid adenoma

Etiology

- germline RET mutations

Associations

- renal dysplasia

References

- Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May;5(5):367-75. PMID: 15864278