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maturity-onset diabetes of the young type 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 13

MONDO:0014589

Also known as:KCNJ11 maturity-onset diabetes of the young (disease)MODY type 13MODY13

Overview

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.

GeneticsAutosomal dominant · KCNJ11 (chr 11)

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: Maturity-onset diabetes of the young; and common findings: Elevated hemoglobin A1c. 7 total HPO annotations.

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

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.

KCNJ11 encodes potassium inwardly rectifying channel subfamily J member 11 (390 aa). Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells. Highest expression in Muscle Skeletal (87.1 TPM) and Brain Cerebellum (37.4 TPM).

Maturity-onset diabetes of the young type 13 is associated with mutations in the KCNJ11 gene on chromosome 11.

The KCNJ11 protein participates in KCNJ11 tetramer:ABCC8 mutants, KCNJ11 tetramer:ABCC8:Mg2+:ADP tetramer, and KCNJ11:ATP tetramer:ABCC8 tetramer pathways.

KCNJ11 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 1.2.

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 KCNJ11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for maturity-onset diabetes of the young type 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 13.

58 publications have been identified in PubMed for maturity-onset diabetes of the young type 13. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	20	34%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616329

GARD

Genetic and Rare Diseases Info Center

GARD:16090

Questions for Your Care Team

→Should I pursue genetic testing for KCNJ11, 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 13

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

maturity-onset diabetes of the young type 13

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications