Multiple endocrine neoplasia type 2A

Definition

An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the RET gene, characterized by an increased risk of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.

Also known as MEA type 2a, MEA type II, men 2A, men type 2a, men type II, MEN2A, multiple endocrine adenomatosis type 2A, multiple endocrine adenomatosis type II, multiple endocrine adenomatosis, type II, multiple endocrine neoplasia IIA, multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type II, multiple endocrine neoplasia, type II, ptc syndrome, RET-related multiple endocrine neoplasia type 2A, Sipple syndrome — per MONDO

Also identified as

• DOID 0050430 per MONDO
• MESH D018813 per MONDO
• NCIT C3226 per MONDO
• OMIM 171400 per MONDO
• Orphanet 247698 per MONDO
• SCTID 721188000 per MONDO
• UMLS C0025268 per MONDO

Affected Organs