autosomal recessive hyperinsulinism due to Kir6.2 deficiency
ORPHA: 79644
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal recessive hyperinsulinism due to Kir6.2 deficiency, sourced from HPO and Orphanet clinical annotations.
Hyperinsulinemic hypoglycemiaAbnormality of the nervous systemRecurrent hypoglycemiaIncreased C-peptide levelAbnormal response to glucagon stimulation testElevated circulating growth hormone concentrationLarge for gestational ageFocal pancreatic islet hyperplasiaDiffuse pancreatic islet hyperplasiaDecreased circulating free fatty acid levelIntellectual disabilitySeizureNeonatal hypoglycemiaApneaIncreased circulating cortisol levelMultiple pancreatic beta-cell adenomasFloppy infantFeeding difficultiesNeurodevelopmental delay
Classification & Codes
Orphanet Code
ORPHA:79644autosomal recessive hyperinsulinism due to Kir6.2 deficiency
| Orphanet | ORPHA:79644 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO