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GTR Home > Conditions/Phenotypes > Aortic valve disease 1

Aortic valve disease 1

Summary

An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1. [from NCI]

Available tests

65 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (65 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AOS5, AOVD1, TAN1, hN1, NOTCH1
    Summary: notch receptor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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