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long QT syndrome 16 (LQT16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 16

MONDO:0032915

Also known as:LQT16Ventricular Tachycardia, Catecholaminergic Polymorphic 6

Overview

GeneticsAutosomal dominant · CALM3 (chr 19)

OnsetCONGENITAL

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: T-wave alternans, Bradycardia, Second degree atrioventricular block, and Perimembranous ventricular septal defect and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Bradycardia, Second degree atrioventricular block, Perimembranous ventricular septal defect

Age of onset: at birth.

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.

CALM3 encodes calmodulin 3 (149 aa). Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Highest expression in Brain Frontal Cortex BA9 (1,593 TPM) and Brain Cortex (1,027 TPM).

Long QT syndrome 16 is associated with mutations in the CALM3 gene on chromosome 19.

CALM3 is classified as a druggable target (Druggable Genome, Enzyme, Ion Channel, and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for CALM3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for long QT syndrome 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present 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 16.

121 publications have been identified in PubMed for long QT syndrome 16. Research spans Epidemiology / Natural History (21%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	26	21%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618782

Questions for Your Care Team

→Should I pursue genetic testing for CALM3, 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 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

long QT syndrome 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications