Aortic Valve Disease 2; Aovd2
Clinical Features
Phenotypes and symptoms related to Aortic Valve Disease 2; Aovd2
- Hypertension
- Coarctation of aorta
- Aortic valve stenosis
- Bicuspid aortic valve
- Heart murmur
- Calcification of the aorta
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Aortic Valve Disease 2; Aovd2 Is also known as bicuspid aortic valve, aortic valve stenosis.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Aortic Valve Disease 2; Aovd2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)
View the complete list with 45 more genes
Specificity
2 %
Genes
100 % |
![]() By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3 , (...)
View the complete list with 10 more genes
Specificity
4 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SMAD6
Specificity
100 %
Genes
100 % |
![]() By MGZ Medical Genetics Center (Germany).
RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1 , (...)
View the complete list with 137 more genes
Specificity
1 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
SMAD6
Specificity
100 %
Genes
100 % |
You can get up to 10 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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