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aortic valve disease 1 (AOVD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic valve disease 1

MONDO:0024523

Also known as:AOVD1NOTCH1 aortic valve diseaseaortic valve disease caused by mutation in NOTCH1

Overview

Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.

GeneticsAutosomal dominant · NOTCH1 (chr 9)

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 very common findings: Aortic valve calcification; and common findings: Aortic valve stenosis and Bicuspid aortic valve. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Aortic valve stenosis, Ventricular septal defect, Mitral stenosis

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.

NOTCH1 encodes notch receptor 1 (2,555 aa). Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Highest expression in Lung (47.5 TPM) and Spleen (45.2 TPM).

Aortic valve disease 1 is associated with mutations in the NOTCH1 gene on chromosome 9.

The NOTCH1 protein participates in NOTCH1 Q2440* Transmembrane Fragment, NOTCH1 Q2395* Transmembrane Fragment, and NOTCH1 P2514Rfs*4 Transmembrane Fragment pathways.

NOTCH1 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, and Transporter categories) with score 19.6.

Diagnosis

Genetic testing for NOTCH1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 2 common 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 aortic valve disease 1.

12 publications have been identified in PubMed for aortic valve disease 1. Research spans Basic Science / Preclinical (42%), Case Report / Case Series (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Laboratory research	5	42%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:109730

GARD

Genetic and Rare Diseases Info Center

GARD:18470

Questions for Your Care Team

→Should I pursue genetic testing for NOTCH1, 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?

← Back to All Diseases

Kisho

aortic valve disease 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

aortic valve disease 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.