maturity-onset diabetes of the young type 9
MeSH: C567393ORPHA: 552
Overview
maturity-onset diabetes of the young that has material basis in heterozygous mutation in the PAX4 gene on chromosome 7q32.1
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 type 9, 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
MeSH Code
C567393Orphanet Code
ORPHA:552maturity-onset diabetes of the young type 9
| MeSH | C567393 |
| 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