multiple endocrine neoplasia type 4
Findings
No curated finding names multiple endocrine neoplasia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
Definition from the Mondo Disease Ontology (MONDO:0012552), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Hashimoto thyroiditisHPOHP:0000872
- 1 of 1 reported patient
- HyperparathyroidismHPOHP:0000843
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- Pancreatic endocrine tumorHPOHP:0030405
- 1 of 1 reported patient
- Parathyroid adenomaHPOHP:0002897
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Primary hyperparathyroidismHPOHP:0008200
- 1 of 1 reported patient
- Abnormality of the endocrine systemHPOHP:0000818
- Very frequent (80% to 99% of cases)
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- Very frequent (80% to 99% of cases)
- HypercalcemiaHPOHP:0003072
- Very frequent (80% to 99% of cases)
- Parathyroid hyperplasiaHPOHP:0008208
- Very frequent (80% to 99% of cases)
- Abnormality of pancreas physiologyHPOHP:0012091
- Frequent (30% to 79% of cases)
- Adrenocortical adenomaHPOHP:0008256
- Frequent (30% to 79% of cases)
Show the remaining 31
- AngiofibromasHPOHP:0010615
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Elevated circulating growth hormone concentrationHPOHP:0000845
- Frequent (30% to 79% of cases)
- Episodic abdominal painHPOHP:0002574
- Frequent (30% to 79% of cases)
- EsophagitisHPOHP:0100633
- Frequent (30% to 79% of cases)
- Fasting hyperinsulinemiaHPOHP:0008283
- 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.
- CDKN1BHGNC:1785
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: multiple endocrine neoplasia type 4
- Also called
- CDKN1B multiple endocrine neoplasiaMEN4multiple endocrine neoplasia caused by mutation in CDKN1Bmultiple endocrine neoplasia, type IV