KEGG   DISEASE: Familial thoracic aortic aneurysm and dissection (TAAD)Help
Entry
H00801                      Disease                                

Name
Familial thoracic aortic aneurysm and dissection (TAAD);
Aortic aneurysm familial thoracic type (AAT)
Description
Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta, absence of clinical features of Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial TAAD.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00801  Familial thoracic aortic aneurysm and dissection (TAAD)
Human diseases in ICD-10 classification [BR:br08403]
 9. Diseases of the circulatory system (I00-I99)
  I70-I79  Diseases of arteries, arterioles and capillaries
   I71  Aortic aneurysm and dissection
    H00801  Familial thoracic aortic aneurysm and dissection (TAAD)
BRITE hierarchy
Pathway
Vascular smooth muscle contraction
MAPK signaling pathway
Calcium signaling pathway
Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Focal adhesion
Adherens junction
Tight junction
Regulation of actin cytoskeleton
Gene
(AAT3) TGFBR2 [HSA:7048] [KO:K04388]
(AAT4) MYH11 [HSA:4629] [KO:K10352]
(AAT5) TGFBR1 [HSA:7046] [KO:K04674]
(AAT6) ACTA2 [HSA:59] [KO:K12313]
(AAT7) MYLK [HSA:4638] [KO:K00907]
(AAT8) PRKG1 [HSA:5592] [KO:K07376]
(AAT9) MFAP5 [HSA:8076]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
Marker
Echocardiography
Computed tomography (CT)
Magnetic resonance imaging (MRI)
Angiography
Comment
Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome are described in H00653, H00800, and H00802, respectively. [DS:H00653] [DS:H00800] [DS:H00802]
Other DBs
Reference
  Authors
Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
  Title
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
  Journal
Annu Rev Genomics Hum Genet 9:283-302 (2008)
DOI:10.1146/annurev.genom.8.080706.092303
Reference
  Authors
Milewicz DM, Regalado E
  Title
Thoracic Aortic Aneurysms and Aortic Dissections
  Journal
(1993)
Reference
  Authors
Guo DC, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM
  Title
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
  Journal
Circ Cardiovasc Genet 4:36-42 (2011)
DOI:10.1161/CIRCGENETICS.110.958066
Reference
  Authors
Erbel R, Alfonso F, Boileau C, Dirsch O, Eber B, Haverich A, Rakowski H, Struyven J, Radegran K, Sechtem U, Taylor J, Zollikofer C, Klein WW, Mulder B, Providencia LA
  Title
Diagnosis and management of aortic dissection.
  Journal
Eur Heart J 22:1642-81 (2001)
DOI:10.1053/euhj.2001.2782
Reference
PMID:23910461 (gene)
  Authors
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM
  Title
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
  Journal
Am J Hum Genet 93:398-404 (2013)
DOI:10.1016/j.ajhg.2013.06.019
Reference
PMID:25434006 (gene)
  Authors
Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C
  Title
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
  Journal
Am J Hum Genet 95:736-43 (2014)
DOI:10.1016/j.ajhg.2014.10.018
Reference
PMID:26838787 (gene)
  Authors
Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM
  Title
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
  Journal
Circ Res 118:928-34 (2016)
DOI:10.1161/CIRCRESAHA.115.307130
Reference
PMID:26854927 (gene)
  Authors
Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM
  Title
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
  Journal
J Clin Invest 126:948-61 (2016)
DOI:10.1172/JCI83778

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