maturity-onset diabetes of the young type 9
Findings
No curated finding names maturity-onset diabetes of the young type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.
Definition from the Mondo Disease Ontology (MONDO:0012818), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AcidemiaHPOHP:0032368
- 1 of 1 reported patient
- Elevated hemoglobin A1cHPOHP:0040217
- 1 of 1 reported patient
- HyperglycemiaHPOHP:0003074
- 1 of 1 reported patient
- HypoinsulinemiaHPOHP:0040216
- 1 of 1 reported patient
- KetonuriaHPOHP:0002919
- 1 of 1 reported patient
- Maturity-onset diabetes of the youngHPOHP:0004904
- 11 of 11 reported patients
- PolydipsiaHPOHP:0001959
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.
- HGNC:8618HGNC:8618
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: maturity-onset diabetes of the young type 9
- Also called
- maturity-onset diabetes of the young (disease) caused by mutation in PAX4maturity-onset diabetes of the young, type IXMODY9PAX4 maturity-onset diabetes of the young (disease)