AOVD3
MCID: ART159
MIFTS: 17

Aortic Valve Disease 3 (AOVD3)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Aortic Valve Disease 3

MalaCards integrated aliases for Aortic Valve Disease 3:

Name: Aortic Valve Disease 3 57 6
Aortic Valve Disease 8 57
Aovd3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance has been observed


Classifications:



External Ids:

Summaries for Aortic Valve Disease 3

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)

MalaCards based summary : Aortic Valve Disease 3, is also known as aortic valve disease 8. An important gene associated with Aortic Valve Disease 3 is ROBO4 (Roundabout Guidance Receptor 4). Affiliated tissues include heart.

Related Diseases for Aortic Valve Disease 3

Symptoms & Phenotypes for Aortic Valve Disease 3

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
bicuspid aortic valve
aortic valve stenosis
atrial septal defect (in some patients)

Cardiovascular Vascular:
aortic root aneurysm
aneurysm of ascending aorta

Clinical features from OMIM:

618496

Drugs & Therapeutics for Aortic Valve Disease 3

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

Genetic Tests for Aortic Valve Disease 3

Anatomical Context for Aortic Valve Disease 3

MalaCards organs/tissues related to Aortic Valve Disease 3:

41
Heart

Publications for Aortic Valve Disease 3

Articles related to Aortic Valve Disease 3:

# Title Authors PMID Year
1
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. 8 71
30455415 2019
2
Reduction of beta-adrenergic receptors in atrial cell membranes of patients following mild to moderate heart failure. 38
8201778 1994
3
[Incidence and concomitant factors of tricuspid valve insufficiency in patients with aortic and mitral valve diseases]. 38
2756734 1989
4
[Rheumatic involvement of the tricuspid valve. Anatomical types and possibilities of dilatation]. 38
3143330 1988
5
[Surgical atrioventricular disconnection in Wolff-Parkinson-White syndrome]. 38
6431924 1984
6
Doppler ultrasound in mitral stenosis. Assessment of pressure gradient and atrioventricular pressure half-time. 38
7113759 1982
7
Pre- and postoperative left ventricular contractile function in patients with aortic valve disease. 38
154914 1979
8
Proceedings: Pulmonary autograft for aortic valve disease: 3 to 8 years later. 38
1268005 1976

Variations for Aortic Valve Disease 3

ClinVar genetic disease variations for Aortic Valve Disease 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ROBO4 NM_019055.6(ROBO4): c.2056+1G> T single nucleotide variant Likely pathogenic rs764038221 11:124757628-124757628 11:124887732-124887732
2 ROBO4 NM_019055.6(ROBO4): c.190C> T (p.Arg64Cys) single nucleotide variant Likely pathogenic rs201393279 11:124767038-124767038 11:124897142-124897142

Expression for Aortic Valve Disease 3

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

Pathways for Aortic Valve Disease 3

GO Terms for Aortic Valve Disease 3

Sources for Aortic Valve Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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