hyperinsulinism due to HNF4A deficiency
ORPHA: 263455
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with hyperinsulinism due to HNF4A deficiency, sourced from HPO and Orphanet clinical annotations.
ProteinuriaAgitationHyperinsulinemic hypoglycemiaHyperinsulinemiaHyperhidrosisPallorIntellectual disabilitySeizureLethargyComaNeonatal hypotoniaTremorHepatomegalyLarge for gestational ageTachycardiaHypoketotic hypoglycemiaRenal Fanconi syndromeNeonatal hypoglycemiaVomitingDiarrheaDrowsinessProgressive neurologic deteriorationElevated circulating hepatic transaminase concentrationGlycosuriaElevated circulating alkaline phosphatase concentrationFasting hypoglycemiaIncreased body weightAbnormal circulating fatty-acid concentrationPancreatic islet-cell hyperplasiaHypophosphatemic ricketsMetabolic ketoacidosisIncreased hepatic glycogen contentFatigue
Classification & Codes
Orphanet Code
ORPHA:263455hyperinsulinism due to HNF4A deficiency
| Orphanet | ORPHA:263455 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO