Aortic Aneurysm, Familial Thoracic 4; Aat4

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 4; Aat4

MYH11

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Aortic Aneurysm, Familial Thoracic 4; Aat4

Congestive heart failure
Dilatation
Patent ductus arteriosus
Stroke
Aortic regurgitation
Bicuspid aortic valve
Aortic aneurysm
Coronary artery atherosclerosis
Abnormality of the vasculature
Aortic dissection

And another 6 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 4; Aat4 Is also known as faa4, aortic aneurysm/aortic dissection and patent ductus arteriosus.

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 4; Aat4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Aortic Dysfunction or Dilation and Related Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1 Specificity 6 % Genes 100 %
NGS Connective Tissue Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...) View the complete list with 13 more genes Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, ELN, FBLN5, FBN1, FBN2, ABCC6, SMAD3, MYH11, MYLK, NOTCH1, ATP7A, PKD2, PLOD1, PRDM5 Specificity 4 % Genes 100 %
FAMILIAL AORTIC ANEURYSMS (MYH11). By Center for Human Genetics, Inc (United States). MYH11 Specificity 100 % Genes 100 %
Familial Aortic Aneurysms. By Center for Human Genetics, Inc (United States). TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1 Specificity 13 % Genes 100 %
Connective Tissue Disorders 22-gene panel. By Center for Human Genetics, Inc (United States). TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1 Specificity 5 % Genes 100 %
Thoracic aortic aneurysms and aortic dissection - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, COL3A1, FBN1, SMAD3, MYH11, MYLK, NOTCH1 Specificity 10 % Genes 100 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, COL3A1, FBN1, SMAD3, MYH11, MYLK, NOTCH1 Specificity 10 % 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 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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