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long QT syndrome 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 13

MONDO:0013279

Also known as:KCNJ5 long QT syndromeLQT13long QT syndrome caused by mutation in KCNJ5

Overview

Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.

GeneticsAutosomal dominant · KCNJ5 (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: Palpitations; and very common findings: Syncope. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Permanent atrial fibrillation, Cardiac arrest, Reduced left ventricular ejection fraction

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.

KCNJ5 encodes potassium inwardly rectifying channel subfamily J member 5 (419 aa). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Highest expression in Adrenal Gland (62.9 TPM) and Pituitary (25.4 TPM).

Long QT syndrome 13 is associated with mutations in the KCNJ5 gene on chromosome 11.

KCNJ5 is classified as a druggable target (Clinically Actionable, Druggable Genome, Ion Channel, and Transporter categories) with score 5.8.

Diagnosis

Genetic testing for KCNJ5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for long QT syndrome 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 common features.

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 long QT syndrome 13.

122 publications have been identified in PubMed for long QT syndrome 13. Research spans Epidemiology / Natural History (31%), Clinical Trial Publication (18%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	38	31%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613485

GARD

Genetic and Rare Diseases Info Center

GARD:15666

Questions for Your Care Team

→Should I pursue genetic testing for KCNJ5, 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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long QT syndrome 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

long QT syndrome 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