hyperinsulinism due to UCP2 deficiency
Findings
No curated finding names hyperinsulinism due to UCP2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Definition from the Mondo Disease Ontology (MONDO:0017183), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Decreased circulating free fatty acid levelHPOHP:0040299
- Very frequent (80% to 99% of cases)
- Elevated circulating C-peptide concentrationHPOHP:0030796
- Very frequent (80% to 99% of cases)
- Excessive insulin response to glucagon testHPOHP:0031084
- Very frequent (80% to 99% of cases)
- Hyperinsulinemic hypoglycemiaHPOHP:0000825
- Very frequent (80% to 99% of cases)
- Hypoketotic hypoglycemiaHPOHP:0001985
- Very frequent (80% to 99% of cases)
- Reactive hypoglycemiaHPOHP:0012051
- Very frequent (80% to 99% of cases)
- Recurrent hypoglycemiaHPOHP:0001988
- Very frequent (80% to 99% of cases)
- AgitationHPOHP:0000713
- Frequent (30% to 79% of cases)
- DrowsinessHPOHP:0002329
- Frequent (30% to 79% of cases)
- Episodic hyperhidrosisHPOHP:0001069
- Frequent (30% to 79% of cases)
- Large for gestational ageHPOHP:0001520
- Frequent (30% to 79% of cases)
- Neurodevelopmental abnormalityHPOHP:0012759
- Frequent (30% to 79% of cases)
Show the remaining 14
- PallorHPOHP:0000980
- Frequent (30% to 79% of cases)
- PalpitationsHPOHP:0001962
- Frequent (30% to 79% of cases)
- TachycardiaHPOHP:0001649
- Frequent (30% to 79% of cases)
- Diffuse pancreatic islet hyperplasiaHPOHP:0031224
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- Occasional (5% to 29% 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.
- UCP2HGNC:12518
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: hyperinsulinism due to UCP2 deficiency
- Also called
- hyperinsulinemic hypoglycemia due to UCP2 deficiency