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aortic valve disease 3 (AOVD3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic valve disease 3

MONDO:0032783

Also known as:AOVD3

Overview

Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene.

GeneticsAutosomal dominant · ROBO4 (chr 11)

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 very common findings: Aortic root aneurysm; and common findings: Bicuspid aortic valve. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm

Explore clinical features

Genetic Landscape

ROBO4 function has not been fully characterized.

Aortic valve disease 3 has been associated with mutations in the ROBO4 gene on chromosome 11.

Diagnosis

Genetic testing for ROBO4 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for aortic valve disease 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common 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 aortic valve disease 3.

203 publications have been identified in PubMed for aortic valve disease 3. Kisho has analyzed 147 by research type. Research spans Clinical Trial Publication (31%), Epidemiology / Natural History (24%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Clinical study results	45	31%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 11:24 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618496

Questions for Your Care Team

→Should I pursue genetic testing for ROBO4, 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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aortic valve disease 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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