hyperinsulinemic hypoglycemia, familial, 3
Findings
No curated finding names hyperinsulinemic hypoglycemia, familial, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals.
Definition from the Mondo Disease Ontology (MONDO:0011236), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
15 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.
- Hyperinsulinemic hypoglycemiaHPOHP:0000825
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal circulating C-peptide concentrationHPOHP:0030794
- Very frequent (80% to 99% of cases)
- Fasting hyperinsulinemiaHPOHP:0008283
- Very frequent (80% to 99% of cases)
- Hypoketotic hypoglycemiaHPOHP:0001985
- Very frequent (80% to 99% of cases)
- Recurrent hypoglycemiaHPOHP:0001988
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
Show the remaining 3
- Diabetes mellitusHPOHP:0000819
- 1 of 5 reported patients · Late onset
- Abnormal nervous system physiologyHPOHP:0012638
- Very rare (1% to 4% of cases)
- Abnormality of the autonomic nervous systemHPOHP:0002270
- Very rare (1% to 4% 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.
- GCKHGNC:4195
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: hyperinsulinemic hypoglycemia, familial, 3
- Also called
- congenital glucokinase-related hyperinsulinismGCK-related hyperinsulinismglucokinase-related hyperinsulinemic hypoglycemiaHHF3hyperinsulinemic hypoglycemia familial 3hyperinsulinemic hypoglycemia, familial, type 3