Aortic Valve Disease 2; Aovd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Aortic Valve Disease 2; Aovd2

SMAD6

View recommended genes panels

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
Connective Tissue Disorders Panel. 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 Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 Specificity 2 % Genes 100 %
Craniosynostosis. 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 Panel complete gene list RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, SMAD6, MSX2, POR, RECQL4 Specificity 4 % Genes 100 %
Connective Tissue Seq Analysis. 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 Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, PLOD1, PLOD3, B3GAT3 Specificity 4 % Genes 100 %
Connective Tissue Seq + Del/Dup Panel. 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 Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, PLOD1, PLOD3 Specificity 4 % Genes 100 %
Connective Tissue Del/Dup Panel. 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 Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, PLOD1, PLOD3 Specificity 4 % Genes 100 %
Aortic valve disease 2 (sequence analysis of SMAD6 gene). By CGC Genetics (Portugal). SMAD6 Specificity 100 % Genes 100 %
Heart Diseases - panels. 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 Panel complete gene list RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TGFBR1, TGFBR2, TLL1, TNNC1, TNNI3, TNNT2, TPM1, TRDN, MYOT, TTN, TTR, KDM6A, VCL, VCP, ACTA1, MYOZ2, GFM1, CACNA1C, SLC25A20, ACTC1, CALM1, CALM2, CRELD1, ZEB2, CASQ2, CAV3, CBL, SHOC2, LDB3, GATA5, ANKRD1, SELENON, ACTN2, ZFPM2, TAB2, SYNE2, SYNE1, FKRP, CFC1, POMGNT1, MTO1, CHKB, ADAMTSL4, POMT2, CITED2, SPRED1, CHD7, AARS2, ACAD9, AGK, COX15, MED13L, CPT1A, CPT2, A2ML1, GNE, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, DMD, DNAH11, NEXN, DSC2, DSG2, DSP, PNPLA2, AGL, NKX2-6, ELN, EMD, ETFA, ETFB, ETFDH, FBN1, FKTN, FHL1, FLNC, AKAP9, FOXH1, GAA, GATA4, GATA6, GBE1, GDF1, GJA1, GLA, ANK2, HRAS, ABCC9, JAG1, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS, LAMP2, LARGE1, LMNA, LZTR1, SMAD6, MAP2K1, MAP2K2, KMT2D, MYBPC3, MYH6, MYH7, MYL2, MYL3, NF1, NODAL, NOTCH1, NOTCH2, NR2F2, NRAS, ACADM, ACADS, PKP2, PLEC, PLN, ACADVL, POMT1, PRKAG2, BAG3, PTPN11, RAF1, RASA2 Specificity 1 % Genes 100 %
Aortic valve disease type 2. By Centogene AG - the Rare Disease Company (Germany). SMAD6 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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