Aortic Aneurysm, Familial Thoracic 9; Aat9

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.

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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
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
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
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
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
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
Specificity
4 %
Genes
100 %

You can get up to 18 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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