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maturity-onset diabetes of the young type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 1

MONDO:0007452

Also known as:HNF4A-associated monogenic diabetesMODY type 1MODY, type I

Overview

Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.

GeneticsAutosomal dominant · HNF4A (chr 20)

Clinical Presentation

Features include: Flushing and Maturity-onset diabetes of the young.

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

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.

HNF4A encodes hepatocyte nuclear factor 4 alpha (474 aa). Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes. Highest expression in Liver (55.4 TPM) and Colon Transverse (33.0 TPM).

Maturity-onset diabetes of the young type 1 is associated with mutations in the HNF4A gene on chromosome 20.

The HNF4A protein participates in HNF4A (pancreas-specific), HNF1A-dependent synthesis of HNF4A, and Expression of HNF4A during nephron development pathways.

HNF4A is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 1.6.

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 HNF4A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for maturity-onset diabetes of the young type 1 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 1.

113 publications have been identified in PubMed for maturity-onset diabetes of the young type 1. Research spans Review / Meta-Analysis (31%), Basic Science / Preclinical (24%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	35	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125850

GARD

Genetic and Rare Diseases Info Center

GARD:3418

Questions for Your Care Team

→Should I pursue genetic testing for HNF4A, 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 1

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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