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atrial septal defect 8 (ASD8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect 8

MONDO:0013750

Also known as:ASD8CITED2 atrial heart septal defectatrial heart septal defect caused by mutation in CITED2

Overview

Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.

GeneticsAutosomal dominant · CITED2 (chr 6)

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 common findings: Anomalous pulmonary venous return.

Organ System	Phenotype Count	Example Features
Lungs and breathing	1	Anomalous pulmonary venous return
Heart and blood vessels

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.

CITED2 encodes Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 (270 aa). Transcriptional coactivator of the p300/CBP-mediated transcription complex. Highest expression in Cells Cultured fibroblasts (492.1 TPM) and Ovary (360.7 TPM).

Atrial septal defect 8 is associated with mutations in the CITED2 gene on chromosome 6.

The CITED2 protein participates in CITED2 gene expression is stimulated by FOXO1,FOXO3, FOXO1,FOXO3 bind CITED2 gene promoter, and FOXO1,FOXO3:CITED2 gene pathways.

CITED2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for CITED2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common 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 8.

220 publications have been identified in PubMed for atrial septal defect 8. Kisho has analyzed 156 by research type. Research spans Clinical Trial Publication (32%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Clinical study results	50	32%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614433

Questions for Your Care Team

→Should I pursue genetic testing for CITED2, 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 8

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

atrial septal defect 8

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