maturity-onset diabetes of the young
ORPHA: 552
Overview
genetic disease that has material basis in mutations in the MODY genes disrupting insulin production
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 maturity-onset diabetes of the young, sourced from HPO and Orphanet clinical annotations.
Glucose intoleranceHyperglycemiaGlycosuriaAbnormal oral glucose toleranceAbnormal circulating C-peptide concentrationAbnormal circulating insulin concentrationHypoinsulinemiaElevated hemoglobin A1cNephropathyRetinopathyHyperinsulinemic hypoglycemiaInsulin-resistant diabetes mellitusIntrauterine growth retardationLarge for gestational ageNeonatal hypoglycemiaTransient neonatal diabetes mellitusOverweightAbnormality of the kidneyRenal cystAbnormality of the genitourinary systemObesityExocrine pancreatic insufficiencyPancreatic hypoplasiaHepatocellular adenoma
Classification & Codes
Orphanet Code
ORPHA:552maturity-onset diabetes of the young
| Orphanet | ORPHA:552 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO