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long QT syndrome 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 9

MONDO:0012736

Also known as:CAV3 long QT syndromeLQT9long QT syndrome caused by mutation in CAV3

Overview

Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.

GeneticsAutosomal dominant · CAV3 (chr 3)

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: Prolonged QT interval; and common findings: Syncope and Sinus bradycardia. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Cardiac arrest, Chest pain, Ventricular arrhythmia

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.

CAV3 encodes caveolin 3 (151 aa). May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Highest expression in Muscle Skeletal (46.5 TPM) and Heart Left Ventricle (13.0 TPM).

Long QT syndrome 9 is associated with mutations in the CAV3 gene on chromosome 3.

The CAV3 protein participates in DYSF, CAV3 and TRIM72 bind, CaV3.2 (CACNA1H:CACNA2D1:CACNB1,2,3:CACNG7) transports calcium from the extracellular region to the cytosol, and CaV3.2:heparan sulfate-HSPG2 pathways.

CAV3 is classified as a druggable target (Cell Surface and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for CAV3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for long QT syndrome 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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 9.

40 publications have been identified in PubMed for long QT syndrome 9. Research spans Basic Science / Preclinical (35%), Epidemiology / Natural History (25%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	14	35%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611818

GARD

Genetic and Rare Diseases Info Center

GARD:10435

Questions for Your Care Team

→Should I pursue genetic testing for CAV3, 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

long QT syndrome 9

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

SGK1-inhibition restores cardiac repolarization in LQT2 rabbits and LQT3 mice by reducing late sodium current.

long QT syndrome 9

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

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

SGK1-inhibition restores cardiac repolarization in LQT2 rabbits and LQT3 mice by reducing late sodium current.