multiple endocrine neoplasia type 2A
Findings
No curated finding names multiple endocrine neoplasia type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008234), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Young adult onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating calcitonin concentrationHPOHP:0003528
- 2 of 2 reported patients
- Thyroid noduleHPOHP:0025388
- 2 of 2 reported patients
- HyperparathyroidismHPOHP:0000843
- 10 of 12 reported patients
- Elevated urinary epinephrine levelHPOHP:0003639
- 36 of 48 reported patients
- Elevated urinary norepinephrine levelHPOHP:0003345
- 28 of 48 reported patients
- Elevated urinary vanillylmandelic acidHPOHP:0011978
- 28 of 48 reported patients
- Medullary thyroid carcinoma
Show the remaining 3
- HeadacheHPOHP:0002315
- 5 of 54 reported patients
- Chest painHPOHP:0100749
- 3 of 54 reported patients
- Thyroid C cell hyperplasiaHPOHP:0011781
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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
15 names
Resolves to: multiple endocrine neoplasia type 2A
- Also called
- MEA type 2aMEA type IImen 2Amen type 2amen type IIMEN2Amultiple endocrine adenomatosis type 2Amultiple endocrine adenomatosis type IImultiple endocrine adenomatosis, type IImultiple endocrine neoplasia IIAmultiple endocrine neoplasia type IImultiple endocrine neoplasia, type IIptc syndromeRET-related multiple endocrine neoplasia type 2ASipple syndrome