Table 1 Overview of diseases and genes associated with thoracic aortic aneurysm

From: Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Disease

OMIM# of disease

Orpha number of disease

Associated gene(s)

OMIM# of associated gene(s)

Aortic aneurysm, familial thoracic (AAT); Aneurysm, thoracic aortic; aortic dissection, familial; thoracic aortic aneurysm and dissection, familial

615436 (AAT8)

91387

PRKG1

176894

 

613780 (AAT7)

91387

MYLK

600922

 

611788 (AAT6)

91387

ACTA2

102620

 

132900 (AAT4)

91387

MYH11

160745

Alport syndrome, X-linked (ATSa)

301050

88917

COL4A5

303630

Aortic valve disease 1 (AOVD1); bicuspid aortic valve

109730

402075

NOTCH1

190198

Arterial tortuosity syndrome (ATSa)

208050

3342

SLC2A10

606145

Contractural arachnodactyly, congenital, Beals syndrome (CCA)

121050

115

FBN2

612570

Cutis laxa, autosomal dominant 1 (ADCL1)

123700

90348

ELN

130160

Cutis laxa, autosomal recessive, type 1B (ARCL1B)

614437

90349

EFEMP2

604633

Ehlers–Danlos syndrome, classical type/type I (EDS I)

130000

90309

COL1A1

120150

   

COL5A1

120215

   

COL5A2

120190

Ehlers–Danlos syndrome, classical type/type II (EDS II)

130010

90318

COL5A1

120215

 

130010

90318

COL5A2

120190

Ehlers–Danlos syndrome, vascular type/type IV (EDS IV)

130050

286

COL3A1

120180

Ehlers–Danlos syndrome, kyphoskoliotic type/type VI (EDS VI)

225400

1900

PLOD1

153454

Ehlers–Danlos syndrome, arthrochalasic type/type VIIA (EDS VIIA)

130060

1899

COL1A1

120150

Familial thoracic aortic aneurysm and aortic dissection

 

91387

TGFB2

190220

Heterotopia, periventricular, Ehlers–Danlos variant (PVNH4)

300537

82004

FLNA

300017

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)

175050

2929

SMAD4

600993

Loeys–Dietz syndrome type 1, Furlong syndrome (LDS1/FS/AAT5)

609192

60030

TGFBR1

190181

Loeys–Dietz syndrome type 2, Marfan syndrome type 2 (LDS2/MFS2/AAT3)

610168

60030

TGFBR2

190182

Loeys–Dietz syndrome type 3, Aneurysm osteoarthritis syndrome (LDS3/AOS)

613795

284984

SMAD3

603109

Loeys–Dietz syndrome type 4 (LDS4)

614816

 

TGFB2

190220

Marfan syndrome (MFS)

154700

558

FBN1

134797

Moyamoya disease 5 (MYMY5)

614042

2573

ACTA2

102620

Shprintzen–Goldberg craniosynostosis syndrome (SGS)

182212

2462

SKI

164780

  1. Note: the nomenclature of diseases associated with thoracic aortic aneurysm is in part controversial.15, 16 This CUGC does not attempt to resolve these controversies. In this table, both OMIM and Orpha numbers are given together with their alternative disease designations in the first column.
  2. aATS is used in OMIM as a symbol for both conditions.
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