hyperinsulinism due to HNF1A deficiency
Findings
No curated finding names hyperinsulinism due to HNF1A deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.
Definition from the Mondo Disease Ontology (MONDO:0017935), read 2026-09-29. CC BY 4.0.
Features
29 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)
- Neonatal hypoglycemiaHPOHP:0001998
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Hypoketotic hypoglycemiaHPOHP:0001985
- Frequent (30% to 79% of cases)
- Large for gestational ageHPOHP:0001520
- Frequent (30% to 79% of cases)
- Maturity-onset diabetes of the youngHPOHP:0004904
- Frequent (30% to 79% of cases)
- Neurodevelopmental abnormalityHPOHP:0012759
- Frequent (30% to 79% of cases)
- PallorHPOHP:0000980
- Frequent (30% to 79% of cases)
- PalpitationsHPOHP:0001962
- 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.
- HNF1AHGNC:11621
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: hyperinsulinism due to HNF1A deficiency
- Also called
- hyperinsulinemic hypoglycemia due to HNF1A deficiency