hyperinsulinism due to INSR deficiency
Findings
No curated finding names hyperinsulinism due to INSR deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Definition from the Mondo Disease Ontology (MONDO:0012381), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- Elevated circulating insulin:C-peptide ratioHPOHP:0034384
- 10 of 10 reported patients
- Fasting hyperinsulinemiaHPOHP:0008283
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Hyperinsulinemic hypoglycemiaHPOHP:0000825
- 10 of 10 reported patients
- Obligate (100% of cases)
- Abnormal circulating C-peptide concentrationHPOHP:0030794
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
- Hypoglycemic comaHPOHP:0001325
- 8 of 10 reported patients
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.
- INSRHGNC:6091
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: hyperinsulinism due to INSR deficiency
- Also called
- hyperinsulinemic hypoglycemia due to INSR deficiencyhyperinsulinemic hypoglycemia due to insulin receptor deficiencyhyperinsulinemic hypoglycemia, familial, type 5