Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2B
Definition
An autosomal dominant disorder caused by specific pathogenic variants in the RET gene, characterized by an increased risk of very early onset medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism, and mucosal neuromas.
Also known as men 2B, men IIB, men type 2B, men type IIB, MEN2B, multiple endocrine adenomatosis type IIB, multiple endocrine neoplasia IIB, multiple endocrine neoplasia type 2B, multiple endocrine neoplasia type 3, multiple endocrine neoplasia type IIB, multiple endocrine neoplasia type III, multiple endocrine neoplasia, type III, RET-related multiple endocrine neoplasia type 2B, Wagenmann-Froboese syndrome — per MONDO
Also identified as
- DOID 10016 per MONDO
- ICD9 237.4 per MONDO
- ICD9 258.03 per MONDO
- MESH D018814 per MONDO
- NCIT C3227 per MONDO
- OMIM 162300 per MONDO
- Orphanet 247709 per MONDO
- SCTID 61530001 per MONDO
- UMLS C0025269 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Endocrine gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Endocrine gland | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |