maturity-onset diabetes of the young type 4
MONDO:0011667Mondo
Findings
No curated finding names maturity-onset diabetes of the young type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.
Definition from the Mondo Disease Ontology (MONDO:0011667), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDX1HGNC:6107
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: maturity-onset diabetes of the young type 4
- Also called
- maturity onset diabetes of the Young, type 4maturity-onset diabetes of the young (disease) caused by mutation in PDX1MODY, type IVMODY4PDX1 maturity-onset diabetes of the young (disease)PDX1-associated monogenic diabetes