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

Familial thoracic aortic aneurysm and dissection (TAAD);
Aortic aneurysm familial thoracic type (AAT)
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.
Cardiovascular disease
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
hsa04270  Vascular smooth muscle contraction
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04810  Regulation of actin cytoskeleton
(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]
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
ICD-10: I71.2
OMIM: 607086 607087 610168 132900 608967 611788 613780 615436 616166 617168 617349
Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
Annu Rev Genomics Hum Genet 9:283-302 (2008)
Milewicz DM, Regalado E
Thoracic Aortic Aneurysms and Aortic Dissections
GeneReviews (1993)
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
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
Circ Cardiovasc Genet 4:36-42 (2011)
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
Diagnosis and management of aortic dissection.
Eur Heart J 22:1642-81 (2001)
PMID:23910461 (gene)
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
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Am J Hum Genet 93:398-404 (2013)
PMID:25434006 (gene)
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
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Am J Hum Genet 95:736-43 (2014)
PMID:26838787 (gene)
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
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Circ Res 118:928-34 (2016)
PMID:26854927 (gene)
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
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
J Clin Invest 126:948-61 (2016)

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