hyperinsulinism due to HNF1A deficiency
ORPHA: 324575
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 hyperinsulinism due to HNF1A deficiency, sourced from HPO and Orphanet clinical annotations.
Hyperinsulinemic hypoglycemiaNeonatal hypotoniaNeonatal hypoglycemiaIncreased C-peptide levelExcessive insulin response to glucagon testDecreased circulating free fatty acid levelAgitationHyperinsulinemiaPallorEpisodic hyperhidrosisLarge for gestational ageTachycardiaPalpitationsHypoketotic hypoglycemiaHypoglycemic seizuresDrowsinessFasting hypoglycemiaMaturity-onset diabetes of the youngReactive hypoglycemiaNeurodevelopmental abnormalityLethargySyncopeHypoglycemic comaSmall for gestational agePolyphagiaLoss of consciousnessFeeding difficultiesKetotic hypoglycemiaHepatomegaly
Classification & Codes
Orphanet Code
ORPHA:324575hyperinsulinism due to HNF1A deficiency
| Orphanet | ORPHA:324575 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO