Aortic Valve Disease 3 (AOVD3)

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OMIM® 57 618496 OMIM Phenotypic Series 57 PS109730 MeSH 44 D001024

MedGen 41 C5193127 CN260588 SNOMED-CT via HPO 68 251036003 253366007 263681008 405752007 60573004 70142008 72352009 more

UniProtKB/Swiss-Prot : ⁷² Aortic valve disease 3: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance.

MalaCards based summary : Aortic Valve Disease 3, also known as aovd3, is related to aortic valve disease 1. An important gene associated with Aortic Valve Disease 3 is ROBO4 (Roundabout Guidance Receptor 4). Affiliated tissues include heart, and related phenotypes are atrial septal defect and bicuspid aortic valve

OMIM® : ⁵⁷ Aortic valve disease-3 (AOVD3) is characterized by aortic stenosis and/or bicuspid aortic valve (BAV), associated in some patients with aneurysm of the aortic root and/or ascending aorta. Atrial septal defect (ASD) has also been observed in some individuals (Gould et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730). (618496) (Updated 20-May-2021)

Clinical features from OMIM®:

618496 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Aortic Valve Disease 3

Search GEO for disease gene expression data for Aortic Valve Disease 3.