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short QT syndrome type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short QT syndrome type 1

MONDO:0012312

Also known as:KCNH2 short QT syndromeSQTSshort QT syndrome caused by mutation in KCNH2

Overview

Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.

GeneticsAutosomal dominant · KCNH2 (chr 7)

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: Shortened QT interval, Cardiac arrest, Palpitations, and Syncope and 2 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Cardiac arrest, Paroxysmal atrial fibrillation, Sudden cardiac death

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.

KCNH2 encodes potassium voltage-gated channel subfamily H member 2 (1,159 aa). Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Highest expression in Pituitary (85.3 TPM) and Colon Sigmoid (75.2 TPM).

Short QT syndrome type 1 is associated with mutations in the KCNH2 gene on chromosome 7.

The KCNH2 protein participates in Class III antiarrhythmics bind KCNH2 in KCNH2:KCNE, KCNH2:KCNE transport K+ from cytosol to extracellular region, and Phase 3 - rapid repolarisation pathways.

KCNH2 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 0.6.

Diagnosis

Genetic testing for KCNH2 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 short QT syndrome type 1.

10 publications have been identified in PubMed for short QT syndrome type 1. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Laboratory research	4	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609620

GARD

Genetic and Rare Diseases Info Center

GARD:18633

Questions for Your Care Team

→Should I pursue genetic testing for KCNH2, 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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short QT syndrome 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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