multiple endocrine neoplasia type 2B
MONDO:0008082Mondo
Findings
No curated finding names multiple endocrine neoplasia type 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008082), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RETHGNC:9967
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
13 names
Resolves to: multiple endocrine neoplasia type 2B
- Also called
- men 2Bmen IIBmen type 2Bmen type IIBMEN2Bmultiple endocrine adenomatosis type IIBmultiple endocrine neoplasia IIBmultiple endocrine neoplasia type 3multiple endocrine neoplasia type IIBmultiple endocrine neoplasia type IIImultiple endocrine neoplasia, type IIIRET-related multiple endocrine neoplasia type 2BWagenmann-Froboese syndrome