aortic valve disease 1
MONDO:0024523Mondo
Findings
No curated finding names aortic valve disease 1 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 NOTCH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024523), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Aortic valve calcificationHPOHP:0004380
- 9 of 10 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 9 of 13 reported patients · Congenital onset
- Aortic valve stenosisHPOHP:0001650
- 7 of 14 reported patients
- Ventricular septal defectHPOHP:0001629
- 2 of 14 reported patients
- Double outlet right ventricleHPOHP:0001719
- 1 of 14 reported patients · Congenital onset
- Mitral atresiaHPOHP:0011560
- 1 of 14 reported patients
- Mitral stenosis
Where it sits
Other names
3 names
Resolves to: aortic valve disease 1
- Also called
- aortic valve disease caused by mutation in NOTCH1AOVD1NOTCH1 aortic valve disease