AOVD3
MCID: ART159
MIFTS: 21
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Aortic Valve Disease 3 (AOVD3)
Categories:
Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Aortic Valve Disease 3:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases |
UniProtKB/Swiss-Prot :
73
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, is also known as aovd3. 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 : 56 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) |
Diseases in the Aortic Valve Insufficiency family:
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Human phenotypes related to Aortic Valve Disease 3:31
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Genetic tests related to Aortic Valve Disease 3:
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MalaCards organs/tissues related to Aortic Valve Disease 3:40
Heart
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Articles related to Aortic Valve Disease 3:
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ClinVar genetic disease variations for Aortic Valve Disease 3:6
UniProtKB/Swiss-Prot genetic disease variations for Aortic Valve Disease 3:73
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Search
GEO
for disease gene expression data for Aortic Valve Disease 3.
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