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maturity-onset diabetes of the young type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 3

MONDO:0010894

Also known as:HNF1A maturity-onset diabetes of the young (disease)HNF1A-associated monogenic diabetesMODY type 3

Overview

Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.

GeneticsAutosomal dominant · HNF1A (chr 12)

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: Hyperglycemia, 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

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HNF1A encodes HNF1 homeobox A (631 aa). Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Highest expression in Liver (8.7 TPM) and Small Intestine Terminal Ileum (6.3 TPM).

Maturity-onset diabetes of the young type 3 is associated with mutations in the HNF1A gene on chromosome 12.

The HNF1A protein participates in HNF1A-dependent synthesis of FOXA3, HNF1A-dependent synthesis of HNF4A, and HNF1A-dependent synthesis of GLUT2 protein pathways.

HNF1A is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 26.1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for HNF1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for maturity-onset diabetes of the young type 3 has been reported in the published literature.

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 3.

51 publications have been identified in PubMed for maturity-onset diabetes of the young type 3. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	15	29%

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600496

GARD

Genetic and Rare Diseases Info Center

GARD:10658

Questions for Your Care Team

→Should I pursue genetic testing for HNF1A, 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 3

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

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