cardiac valvular dysplasia 2
MONDO:0859572Mondo
Findings
No curated finding names cardiac valvular dysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Pulmonic stenosisHPOHP:0001642
- 4 of 4 reported patients
- Aortic regurgitationHPOHP:0001659
- 3 of 4 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 2 of 4 reported patients
- Dysplastic aortic valveHPOHP:0005176
- 2 of 4 reported patients
- Pulmonary artery dilatationHPOHP:0004927
- 2 of 4 reported patients
- Pulmonic regurgitationHPOHP:0010444
- 2 of 4 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 4 reported patients
- Central cyanosisHPOHP:0034032
- 1 of 4 reported patients
- Chest painHPOHP:0100749
- 1 of 4 reported patients
- Heart murmurHPOHP:0030148
- 1 of 4 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 1 of 4 reported patients
- Left ventricular diastolic dysfunctionHPOHP:0025168
- 1 of 4 reported patients
Show the remaining 4
- PalpitationsHPOHP:0001962
- 1 of 4 reported patients
- Subvalvular aortic stenosisHPOHP:0001682
- 1 of 4 reported patients
- Systolic heart murmurHPOHP:0031664
- 1 of 4 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 1 of 4 reported patients
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.
- ADAMTS19HGNC:17111
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of