Aortic Aneurysm, Familial Thoracic 4; Aat4
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.
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 |
---|
![]() 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 % |
![]() 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
Specificity
4 %
Genes
100 % |
![]() By Center for Human Genetics, Inc (United States).
MYH11
Specificity
100 %
Genes
100 % |
![]() By Center for Human Genetics, Inc (United States).
TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1
Specificity
13 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
You can get up to 89 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEPHROTIC SYNDROME, TYPE 4; NPHS4 PROTEUS-LIKE SYNDROME FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD BRITTLE CORNEA SYNDROME 1; BCS1 PEELING SKIN SYNDROME 2; PSS2 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5