permanent neonatal diabetes mellitus
ORPHA: 99885
Overview
neonatal diabetes mellitus that has material basis in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene
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 permanent neonatal diabetes mellitus, sourced from HPO and Orphanet clinical annotations.
Downturned corners of mouthArthrogryposis multiplex congenitaKetonuriaProminent metopic ridgeLower-limb joint contractureModerate albuminuriaNeurodevelopmental delayRenal tubular dysfunctionHearing impairmentAtaxiaHypotoniaComaApraxiaPancreatic hypoplasiaPeripheral axonal neuropathySevere intellectual disabilityAbnormality of the upper urinary tractNeonatal insulin-dependent diabetes mellitusFailure to thriveWeight lossDehydrationHyperglycemiaGlycosuriaReduced pancreatic beta cellsHypovolemiaRetinopathyIntellectual disabilityGlobal developmental delayMotor delayBilateral ptosisIntrauterine growth retardationAbnormal heart morphologyBilateral tonic-clonic seizureGeneralized myoclonic seizure
Classification & Codes
Orphanet Code
ORPHA:99885permanent neonatal diabetes mellitus
| Orphanet | ORPHA:99885 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO