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maturity-onset diabetes of the young type 9 (MODY9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 9

MONDO:0012818

Also known as:MODY9PAX4 maturity-onset diabetes of the young (disease)maturity-onset diabetes of the young (disease) caused by mutation in PAX4

Overview

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.

GeneticsAutosomal dominant · PAX4 (chr 7)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Ketonuria, Polydipsia, Hyperglycemia, and Maturity-onset diabetes of the young and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Maturity-onset diabetes of the young

Genetic Landscape

PAX4 function has not been fully characterized.

Maturity-onset diabetes of the young type 9 is associated with mutations in the PAX4 gene on chromosome 7.

Diagnosis

Genetic testing for PAX4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for maturity-onset diabetes of the young type 9.

4 publications have been identified in PubMed for maturity-onset diabetes of the young type 9. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

Gomez VL (2026). [PMID: 41751498](https://pubmed.ncbi.nlm.nih.gov/41751498/). *Curr Issues Mol Biol*. [Review / Meta-Analysis]
Minniakhmetov IR (2025). [PMID: 39859454](https://pubmed.ncbi.nlm.nih.gov/39859454/). *Int J Mol Sci*. [Epidemiology / Natural History]
Chen X (2025). [PMID: 41475885](https://pubmed.ncbi.nlm.nih.gov/41475885/). *BMJ Open Diabetes Res Care*. [Basic Science / Preclinical]
Eser M (2025). [PMID: 39361122](https://pubmed.ncbi.nlm.nih.gov/39361122/). *J Appl Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612225

GARD

Genetic and Rare Diseases Info Center

GARD:10663

Questions for Your Care Team

→Should I pursue genetic testing for PAX4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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maturity-onset diabetes of the young type 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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