autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Findings
No curated finding names autosomal dominant hyperinsulinism due to Kir6.2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
Definition from the Mondo Disease Ontology (MONDO:0017185), read 2026-09-29. CC BY 4.0.
Features
28 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 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)
- Fasting hypoglycemiaHPOHP:0003162
- 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 16
- Large for gestational ageHPOHP:0001520
- 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)
- TachycardiaHPOHP:0001649
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- 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.
- KCNJ11HGNC:6257
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Also called
- autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiencydominant KATP hyperinsulinism due to Kir6.2 deficiency