Aortic Aneurysm, Familial Thoracic 9; Aat9

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 Aneurysm, Familial Thoracic 9; Aat9

MFAP5

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Clinical Features

Top most frequent phenotypes and symptoms related to Aortic Aneurysm, Familial Thoracic 9; Aat9

High palate
Hypertension
Dilatation
Pectus excavatum
Stroke
Pectus carinatum
Arachnodactyly
Mitral valve prolapse
Ventricular hypertrophy
Atrial fibrillation

And another 5 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 Aneurysm, Familial Thoracic 9; Aat9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection.

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 Aneurysm, Familial Thoracic 9; Aat9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Aortic aneurysm, familial thoracic 9, MFAP5. By Center for Human Genetics, Inc (United States). MFAP5 Specificity 100 % Genes 100 %
Familial Aneurysm Panel. By Collagen Diagnostic Laboratory University of Washington (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...) View the complete list with 3 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, PLOD3, PRKG1 Specificity 5 % Genes 100 %
MFAP5. By Institute for Human Genetics University Clinic Freiburg (Germany). MFAP5 Specificity 100 % Genes 100 %
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 %
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 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SKI, SMS, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA , (...) View the complete list with 10 more genes Panel complete gene list SKI, SMS, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, MAT2A, MYH11, MYLK, NOTCH1, PLOD1, PRKG1 Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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