Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

maturity-onset diabetes of the young type 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 4

MONDO:0011667

Also known as:MODY type 4MODY, type IVMODY4

Find Clinical TrialsTrials

Overview

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.

GeneticsAutosomal dominant · PDX1 (chr 13)

OnsetADULT

Clinical Trials1 registered

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: Maturity-onset diabetes of the young and Type II diabetes mellitus.

Organ System	Phenotype Count	Example Features
Hormones	2	Maturity-onset diabetes of the young, Type II diabetes mellitus

Age of onset: adulthood.

Explore clinical features

Genetic Landscape

PDX1 function has not been fully characterized.

Maturity-onset diabetes of the young type 4 is associated with mutations in the PDX1 gene on chromosome 13.

Diagnosis

Genetic testing for PDX1 is available. Testing is considered confirmatory for diagnosis.

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for maturity-onset diabetes of the young type 4. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (27%).

Research Type	Count	% of Total
Patient case studies	4	27%

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 12:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606392

GARD

Genetic and Rare Diseases Info Center

GARD:10659

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for PDX1, 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?

← Back to All Diseases

maturity-onset diabetes of the young type 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications