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sick sinus syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sick sinus syndrome 1

MONDO:0024562

Also known as:SCN5A sick sinus syndromesick sinus syndrome caused by mutation in SCN5ASSS1

Overview

Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.

GeneticsAutosomal recessive · SCN5A (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: Sick sinus syndrome, Ventricular escape rhythm, Absent P wave, and Prolonged QT interval and 2 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Ventricular escape rhythm, Atrioventricular block, Sinus bradycardia

Explore clinical features

Genetic Landscape

SCN5A function has not been fully characterized.

Sick sinus syndrome 1 is associated with mutations in the SCN5A gene on chromosome 3.

Diagnosis

Genetic testing for SCN5A 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 sick sinus syndrome 1.

14 publications have been identified in PubMed for sick sinus syndrome 1. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (29%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Laboratory research	6	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608567

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

sick sinus syndrome 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

SCN5A (c.4720G> A): a rare genetic variant associated with familial sick sinus syndrome and sudden cardiac death.

sick sinus syndrome 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

SCN5A (c.4720G> A): a rare genetic variant associated with familial sick sinus syndrome and sudden cardiac death.