AOVD3
MCID: ART159
MIFTS: 21

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 56 73 29 6
Aovd3 56 73
Aortic Valve Disease 8 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance has been observed


HPO:

31
aortic valve disease 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 618496
OMIM Phenotypic Series 56 PS109730
MeSH 43 D001024

Summaries for Aortic Valve Disease 3

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)

Related Diseases for Aortic Valve Disease 3

Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1 Aortic Valve Disease 2
Aortic Valve Disease 3

Symptoms & Phenotypes for Aortic Valve Disease 3

Human phenotypes related to Aortic Valve Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 very rare (1%) HP:0001631
2 bicuspid aortic valve 31 HP:0001647
3 aortic valve stenosis 31 HP:0001650
4 aortic root aneurysm 31 HP:0002616

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Aortic Valve Disease 3:

# Genetic test Affiliating Genes
1 Aortic Valve Disease 3 29

Anatomical Context for Aortic Valve Disease 3

MalaCards organs/tissues related to Aortic Valve Disease 3:

40
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. 56 6
30455415 2019
2
Reduction of beta-adrenergic receptors in atrial cell membranes of patients following mild to moderate heart failure. 61
8201778 1994
3
[Incidence and concomitant factors of tricuspid valve insufficiency in patients with aortic and mitral valve diseases]. 61
2756734 1989
4
[Rheumatic involvement of the tricuspid valve. Anatomical types and possibilities of dilatation]. 61
3143330 1988
5
[Surgical atrioventricular disconnection in Wolff-Parkinson-White syndrome]. 61
6431924 1984
6
Doppler ultrasound in mitral stenosis. Assessment of pressure gradient and atrioventricular pressure half-time. 61
7113759 1982
7
Pre- and postoperative left ventricular contractile function in patients with aortic valve disease. 61
154914 1979
8
Proceedings: Pulmonary autograft for aortic valve disease: 3 to 8 years later. 61
1268005 1976

Variations for Aortic Valve Disease 3

ClinVar genetic disease variations for Aortic Valve Disease 3:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ROBO4 NM_019055.6(ROBO4):c.2056+1G>TSNV Likely pathogenic 560404 rs764038221 11:124757628-124757628 11:124887732-124887732
2 ROBO4 NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)SNV Likely pathogenic 560394 rs201393279 11:124767038-124767038 11:124897142-124897142

UniProtKB/Swiss-Prot genetic disease variations for Aortic Valve Disease 3:

73
# Symbol AA change Variation ID SNP ID
1 ROBO4 p.Arg64Cys VAR_083093

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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