hyperinsulinism due to HNF4A deficiency
Findings
No curated finding names hyperinsulinism due to HNF4A deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).
Definition from the Mondo Disease Ontology (MONDO:0016988), read 2026-09-29. CC BY 4.0.
Features
33 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.
- Abnormal circulating fatty acid concentrationHPOHP:0004359
- Very frequent (80% to 99% of cases)
- AgitationHPOHP:0000713
- Very frequent (80% to 99% of cases)
- ComaHPOHP:0001259
- Very frequent (80% to 99% of cases)
- DrowsinessHPOHP:0002329
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- Fasting hypoglycemiaHPOHP:0003162
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- HyperinsulinemiaHPOHP:0000842
- 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)
Show the remaining 21
- Increased body weightHPOHP:0004324
- Very frequent (80% to 99% of cases)
- Large for gestational ageHPOHP:0001520
- Very frequent (80% to 99% of cases)
- LethargyHPOHP:0001254
- 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)
- PallorHPOHP:0000980
- Very frequent (80% to 99% 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.
- HNF4AHGNC:5024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: hyperinsulinism due to HNF4A deficiency
- Also called
- hyperinsulinemic hypoglycemia due to HNF4A deficiency