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aortic valve disease 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic valve disease 2

MONDO:0013902

Also known as:SMAD6 aortic valve diseaseaortic valve disease caused by mutation in SMAD6aortic valve disease type 2

Overview

Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.

GeneticsAutosomal dominant · SMAD6 (chr 15)

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 common findings: Calcification of the aorta, Coarctation of aorta, and Bicuspid aortic valve; and sometimes findings: Aortic valve stenosis, Aortic regurgitation, Aortic tortuosity, and Mitral regurgitation and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7	Aortic valve stenosis, Bicuspid aortic valve, Aortic regurgitation

Genetic Landscape

SMAD6 function has not been fully characterized.

Aortic valve disease 2 is associated with mutations in the SMAD6 gene on chromosome 15.

Diagnosis

Genetic testing for SMAD6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for aortic valve disease 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 2.

279 publications have been identified in PubMed for aortic valve disease 2. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (26%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	71	28%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614823

GARD

Genetic and Rare Diseases Info Center

GARD:18471

Questions for Your Care Team

→Should I pursue genetic testing for SMAD6, 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 2

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.

A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.

aortic valve disease 2

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.

A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.