Aortic Valve Disease 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618496 PS109730

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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.

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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	Congenital Aortic Valve Insufficiency

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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

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Drugs & Therapeutics for Aortic Valve Disease 3

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

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Genetic Tests for Aortic Valve Disease 3

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Anatomical Context for Aortic Valve Disease 3

MalaCards organs/tissues related to Aortic Valve Disease 3:

⁴¹

Heart

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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	Gould RA...Dietz HC	30455415	2019
2	Reduction of beta-adrenergic receptors in atrial cell membranes of patients following mild to moderate heart failure. ³⁸	Ohsuzu F...Nakamura H	8201778	1994
3	[Incidence and concomitant factors of tricuspid valve insufficiency in patients with aortic and mitral valve diseases]. ³⁸	Dittmann H...Karsch KR	2756734	1989
4	[Rheumatic involvement of the tricuspid valve. Anatomical types and possibilities of dilatation]. ³⁸	Penther P...Gilard M	3143330	1988
5	[Surgical atrioventricular disconnection in Wolff-Parkinson-White syndrome]. ³⁸	Pavie A...Slama R	6431924	1984
6	Doppler ultrasound in mitral stenosis. Assessment of pressure gradient and atrioventricular pressure half-time. ³⁸	Knutsen KM...Grendahl H	7113759	1982
7	Pre- and postoperative left ventricular contractile function in patients with aortic valve disease. ³⁸	Krayenbuehl HP...Senning A	154914	1979
8	Proceedings: Pulmonary autograft for aortic valve disease: 3 to 8 years later. ³⁸	Saravalli O...Ross D	1268005	1976

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Genes for Aortic Valve Disease 3

Genes related to Aortic Valve Disease 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ROBO4	Roundabout Guidance Receptor 4	Protein Coding	500	Molecular basis known ⁵⁷

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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

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Expression for Aortic Valve Disease 3

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

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Pathways for Aortic Valve Disease 3

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GO Terms for Aortic Valve Disease 3

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Sources for Aortic Valve Disease 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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³³ ICD10

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³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Aortic Valve Disease 3 (AOVD3)

Aliases & Classifications for Aortic Valve Disease 3

MalaCards integrated aliases for Aortic Valve Disease 3:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Aortic Valve Disease 3

Related Diseases for Aortic Valve Disease 3

Diseases in the Aortic Valve Insufficiency family:

Symptoms & Phenotypes for Aortic Valve Disease 3

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Aortic Valve Disease 3

Articles related to Aortic Valve Disease 3:

Genes for Aortic Valve Disease 3

Genes related to Aortic Valve Disease 3 (1 elite genes):

Variations for Aortic Valve Disease 3

ClinVar genetic disease variations for Aortic Valve Disease 3:

Expression for Aortic Valve Disease 3

Pathways for Aortic Valve Disease 3

GO Terms for Aortic Valve Disease 3

Sources for Aortic Valve Disease 3