aortic valve disease 2
MONDO:0013902Mondo
Findings
No curated finding names aortic valve disease 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013902), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by high penetrance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Calcification of the aortaHPOHP:0004963
- 1 of 2 reported patients
- Coarctation of aortaHPOHP:0001680
- 1 of 2 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 9 of 22 reported patients
- Aortic aneurysmHPOHP:0004942
- 5 of 20 reported patients
- Aortic valve stenosisHPOHP:0001650
- 5 of 22 reported patients
- Aortic regurgitationHPOHP:0001659
- 4 of 20 reported patients
- Ascending aortic dissectionHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SMAD6HGNC:6772
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: aortic valve disease 2
- Also called
- aortic valve disease caused by mutation in SMAD6aortic valve disease type 2SMAD6 aortic valve disease