Aortic Aneurysm, Familial Thoracic 1; Aat1

Description

Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (OMIM ) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (OMIM ), and vascular (type IV) Ehlers-Danlos syndrome (OMIM ). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome. Genetic Heterogeneity of Thoracic Aortic AneurysmLoci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2 ). Mutation in the MYH11 gene (OMIM ) on chromosome 16p causes AAT4 (OMIM ). Mutation in the ACTA2 gene (OMIM ) on chromosome 10q causes AAT6 (OMIM ). Mutation in the MYLK gene (OMIM ) on chromosome 3q21 causes AAT7 (OMIM ). Mutation in the PRKG1 gene (OMIM ) on chromosome 10q11 causes AAT8 (OMIM ). Mutation in the MFAP5 gene (OMIM ) on chromosome 12p13 causes AAT9 (OMIM ). Mutation in the LOX gene (OMIM ) on chromosome 5q23 causes AAT10 (OMIM ). Mutation in the FOXE3 gene (OMIM ) on chromosome 1p33 causes susceptibility to AAT11 (OMIM ).Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, {610168} and LDS1, {609192}, caused by mutation in the TGFBR2 (OMIM ) and TGFBR1 (OMIM ) genes, respectively). ReviewsPyeritz (2014) reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways.

Clinical Features

Top most frequent phenotypes and symptoms related to Aortic Aneurysm, Familial Thoracic 1; Aat1

  • Patent ductus arteriosus
  • Dilatation
  • Stroke
  • Chest pain
  • Cardiomegaly
  • Aortic regurgitation
  • Aortic aneurysm
  • Cutis marmorata
  • Coronary artery atherosclerosis
  • Exertional dyspnea
And another 11 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Aortic Aneurysm, Familial Thoracic 1; Aat1 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 in United States.

FBLN5, COL1A1, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
5 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
FAMILIAL AORTIC ANEURYSMS (MYH11).

By Center for Human Genetics, Inc in United States.

MYH11
Specificity
100 %
Genes
100 %
Familial Aortic Aneurysms.

By Center for Human Genetics, Inc in United States.

TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, PRKG1
Specificity
13 %
Genes
100 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, COL5A1, COL5A2, FLNA, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, MYH11, PRKG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Thoracic aortic aneurysms and aortic dissection - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1, FBN1, PLOD3, CBS, SMAD4, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Familial Aneurysm and Aortopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Thoracic Aortic Aneurysm Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

COL3A1, FBN1, CBS, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
8 %
Genes
100 %
MYH11 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MYH11
Specificity
100 %
Genes
100 %
MYH11.

By Institute for Human Genetics University Clinic Freiburg in Germany.

MYH11
Specificity
100 %
Genes
100 %
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Marfan/TAAD Sequencing Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Marfan Syndrome/TAAD Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
100 %
Marfan/TAAD Sequencing & Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
MYH11. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MYH11
Specificity
100 %
Genes
100 %
Connective Tissue Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FBLN5, COL1A1, COL1A2, COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Familial aortic dissection type 4 (sequence analysis of MYH11 gene).

By CGC Genetics in Portugal.

MYH11
Specificity
100 %
Genes
100 %
Thoracic aortic aneurysm, familial form (NGS panel for 3 genes).

By CGC Genetics in Portugal.

SMAD3, ACTA2, MYH11
Specificity
34 %
Genes
100 %
Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes).

By CGC Genetics in Portugal.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
RT-PCR t/inv(16)(CBFB/MYH11).

By CGC Genetics in Portugal.

MYH11, CBFB
Specificity
50 %
Genes
100 %
CFBF/MYH11 quantification.

By CGC Genetics in Portugal.

MYH11, CBFB
Specificity
50 %
Genes
100 %
MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

MYH11
Specificity
100 %
Genes
100 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, SMS, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYH11 gene.

By PreventionGenetics PreventionGenetics in United States.

MYH11
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL3A1, FBN1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A, LOX
Specificity
6 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Thoracic aortic diseases.

By Institute of Human Genetics Cologne University in Germany.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
10 %
Genes
100 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).

By MGZ Medical Genetics Center in Germany.

COL3A1, FBN1, CBS, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, SLC2A10, MYH11, EFEMP2, PRKG1
Specificity
7 %
Genes
100 %
Cardiovascular disorders panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, SLC8A1
Specificity
6 %
Genes
100 %
Congenital heart defects panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ELN, JAG1, RAF1, TAZ, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MYH7, LDB3, MYBPC3, NODAL, FOXH1, MYH11 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Aortic Aneurysm, familial thoracic.

By Centogene AG - the Rare Disease Company in Germany.

MYH11
Specificity
100 %
Genes
100 %
Familial thoracic aortic aneurysm panel.

By Centogene AG - the Rare Disease Company in Germany.

CBS, MYLK, ACTA2, MYH11, MFAP5, MAT2A, LOX, BGN
Specificity
13 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Single gene testing MYH11.

By CeGaT GmbH in Germany.

MYH11
Specificity
100 %
Genes
100 %
Thoracic Aortic Aneurysms and Aortic Dissections.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
12 %
Genes
100 %
Marfan syndrome, MYH11.

By GGA - Galil Genetic Analysis in Israel.

MYH11
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes.

By Asper Biogene Asper Biogene LLC in Estonia.

COL3A1, FBN1, COL5A1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
HAD panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, ACTA2, MYH11, TGFB3
Specificity
10 %
Genes
100 %
MYH11 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

MYH11
Specificity
100 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Aortic diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Marfan syndrome and related disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
10 %
Genes
100 %
NGS panel - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Familial Aortopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

COL3A1, FBN1, TGFBR1, TGFBR2, ACTA2, MYH11
Specificity
17 %
Genes
100 %
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
6 %
Genes
100 %
MYH11.

By Fulgent Genetics Fulgent Genetics in United States.

MYH11
Specificity
100 %
Genes
100 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Thoracic aortic aneurysm type IV.

By Bioarray in Spain.

MYH11
Specificity
100 %
Genes
100 %
Familial thoracic aortic aneurysm and aortic dissection type 4.

By Bioarray in Spain.

MYH11
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, SMAD6
Specificity
10 %
Genes
100 %
MYH11 Gene Sequencing and Deletion/Duplciation Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MYH11
Specificity
100 %
Genes
100 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Aortic Aneurysm, Familial Thoracic Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11, TGFB3
Specificity
10 %
Genes
100 %
MYH11 Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

MYH11
Specificity
100 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION.

By Laboratorio de Genetica Clinica SL in Spain.

TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
15 %
Genes
100 %
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, PRKG1, MFAP5
Specificity
7 %
Genes
100 %
Aortic aneurysm, hereditary thoracic panel.

By LifeLabs Genetics in Canada.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
100 %
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

COL3A1, FBN1, COL5A1, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
12 %
Genes
100 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Heritable Thoracic Aortic Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, TGFB3, PRKG1, MFAP5, MAT2A
Specificity
8 %
Genes
100 %

Alternate names

Aortic Aneurysm, Familial Thoracic 1; Aat1 Is also known as faa1, annuloaortic ectasia, aortic dissection, familial, aortic aneurysm, familial thoracic, aneurysm, thoracic aortic;annuloaortic ectasia; cystic medial necrosis of aorta.



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