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atrial septal defect 6 (ASD6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect 6

MONDO:0013123

Also known as:ASD6TLL1 atrial heart septal defectatrial heart septal defect caused by mutation in TLL1

Overview

Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.

GeneticsAutosomal dominant · TLL1 (chr 4)

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: Atrial septal defect; and sometimes findings: Bradycardia and Atrial fibrillation.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Bradycardia, Atrial fibrillation, Atrial septal defect

Age of onset: at birth.

Explore clinical features

Genetic Landscape

TLL1 function has not been fully characterized.

Atrial septal defect 6 is associated with mutations in the TLL1 gene on chromosome 4.

Diagnosis

Genetic testing for TLL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 atrial septal defect 6.

67 publications have been identified in PubMed for atrial septal defect 6. Research spans Epidemiology / Natural History (28%), Case Report / Case Series (22%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	19	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613087

Questions for Your Care Team

→Should I pursue genetic testing for TLL1, 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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atrial septal defect 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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