multiple endocrine neoplasia type 1
Findings
No curated finding names multiple endocrine neoplasia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the MEN1 gene, characterized by an increased risk of tumors of the parathyroid glands, pituitary gland, and foregut neuroendocrine tumors (most commonly pancreatic islet cells).
Definition from the Mondo Disease Ontology (MONDO:0007540), read 2026-09-29. CC BY 4.0.
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
76 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.
- AngiofibromasHPOHP:0010615
- Very frequent (80% to 99% of cases)
- HypercalcemiaHPOHP:0003072
- Very frequent (80% to 99% of cases)
- Impairment of activities of daily livingHPOHP:0031058
- Very frequent (80% to 99% of cases)
- Parathyroid hyperplasiaHPOHP:0008208
- Very frequent (80% to 99% of cases)
- Primary hyperparathyroidismHPOHP:0008200
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
Show the remaining 64
- HypergastrinemiaHPOHP:0500167
- Frequent (30% to 79% of cases)
- ImpotenceHPOHP:0000802
- Frequent (30% to 79% of cases)
- Large cafe-au-lait macules with irregular marginsHPOHP:0005605
- Frequent (30% to 79% of cases)
- Multiple lipomasHPOHP:0001012
- Frequent (30% to 79% of cases)
- Neoplasm of the pancreasHPOHP:0002894
- Frequent (30% to 79% of cases)
- Peptic ulcerHPOHP:0004398
- Frequent (30% to 79% of cases)
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.
- MEN1HGNC:7010
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
19 names
Resolves to: multiple endocrine neoplasia type 1
- Also called
- MEA type 1MEA type Imen 1men type 1men type IMEN1MEN1 multiple endocrine neoplasiaMEN1 syndromeMEN1-related multiple endocrine neoplasiamultiple endocrine adenomatosis type 1multiple endocrine adenomatosis type Imultiple endocrine adenomatosis, type Imultiple endocrine neoplasia 1multiple endocrine neoplasia caused by mutation in MEN1multiple endocrine neoplasia type 1 syndromemultiple endocrine neoplasia type I