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maturity-onset diabetes of the young type 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 6

MONDO:0011668

Also known as:MODY type 6MODY6NEUROD1 maturity-onset diabetes of the young (disease)

Overview

Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.

GeneticsAutosomal dominant · NEUROD1 (chr 2)

OnsetADULT

Clinical Presentation

Features include: Maturity-onset diabetes of the young.

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

Age of onset: adulthood.

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.

NEUROD1 encodes neuronal differentiation 1 (356 aa). Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Highest expression in Brain Cerebellar Hemisphere (306.4 TPM) and Brain Cerebellum (215.4 TPM).

Maturity-onset diabetes of the young type 6 is associated with mutations in the NEUROD1 gene on chromosome 2.

The NEUROD1 protein participates in NEUROG3-dependent synthesis of NEUROD1, NEUROD1- and PDX1-dependent synthesis of glucokinase (GCK) protein, and Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells pathways.

NEUROD1 is classified as a druggable target (Kinase and Transcription Factor categories) with score 2.5.

Diagnosis

Genetic testing for NEUROD1 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.

No clinical trials have been registered for maturity-onset diabetes of the young type 6.

17 publications have been identified in PubMed for maturity-onset diabetes of the young type 6. Research spans Case Report / Case Series (47%), Epidemiology / Natural History (24%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	8	47%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606394

GARD

Genetic and Rare Diseases Info Center

GARD:10660

Questions for Your Care Team

→Should I pursue genetic testing for NEUROD1, 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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Kisho

maturity-onset diabetes of the young type 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.

The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.

maturity-onset diabetes of the young type 6

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

Latest News & Developments

Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.

The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.