KEGG DISEASE: 家族性胸部大動脈瘤及び解離

DISEASE: 家族性胸部大動脈瘤及び解離

エントリ

H00801

名称

家族性胸部大動脈瘤及び解離

下位グループ

Meester-Loeys 症候群 [DS:H02720]

概要

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.

カテゴリ

循環器系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
11 循環器系の疾患
  動脈または細動脈の疾患
   BD50  大動脈瘤または大動脈解離
    H00801  家族性胸部大動脈瘤及び解離
パスウェイに基づく疾患分類 [BR:jp08402]
シグナル伝達
  nt06507  TGFB シグナリング
   H00801  家族性胸部大動脈瘤及び解離
  nt06528  カルシウムシグナリング
   H00801  家族性胸部大動脈瘤及び解離
細胞プロセス
  nt06539  筋細胞の細胞骨格
   H00801  家族性胸部大動脈瘤及び解離
内分泌系
  nt06325  ホルモンとサイトカインのシグナリング
   H00801  家族性胸部大動脈瘤及び解離

パスウェイ

hsa04020

Calcium signaling pathway

hsa04270

Vascular smooth muscle contraction

hsa04820

Cytoskeleton in muscle cells

ネットワーク

nt06325 Hormone/cytokine signaling
nt06507 TGFB signaling
nt06528 Calcium signaling
nt06539 Cytoskeleton in muscle cells

病因遺伝子

(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] [KO:K25410]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
(AAT12) THSD4 [HSA:79875] [KO:K23377]

Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome are described in H00653, H00800, and H00802, respectively. [DS:H00653] [DS:H00800] [DS:H00802]

リンク

ICD-11:

BD50.3

ICD-10:

I71.2

OMIM:

607086 607087 610168 132900 609192 611788 613780 615436 616166 617168 617349 619825

文献

PMID:18544034

著者

Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H

タイトル

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.

雑誌

Annu Rev Genomics Hum Genet 9:283-302 (2008)
DOI:10.1146/annurev.genom.8.080706.092303

文献

PMID:20301299

著者

Milewicz DM, Regalado E

タイトル

Thoracic Aortic Aneurysms and Aortic Dissections

雑誌

GeneReviews (1993)

文献

PMID:21163914

著者

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

タイトル

Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.

雑誌

Circ Cardiovasc Genet 4:36-42 (2011)
DOI:10.1161/CIRCGENETICS.110.958066

文献

PMID:11511117

著者

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

タイトル

Diagnosis and management of aortic dissection.

雑誌

Eur Heart J 22:1642-81 (2001)
DOI:10.1053/euhj.2001.2782

文献

PMID:16027248 (TGFBR2)

著者

Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM

タイトル

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

雑誌

Circulation 112:513-20 (2005)
DOI:10.1161/CIRCULATIONAHA.105.537340

文献

PMID:16444274 (MYH11)

著者

Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X

タイトル

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

雑誌

Nat Genet 38:343-9 (2006)
DOI:10.1038/ng1721

文献

PMID:16791849 (TGFBR1)

著者

Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B

タイトル

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

雑誌

Hum Mutat 27:760-9 (2006)
DOI:10.1002/humu.20353

文献

PMID:17994018 (ACTA2)

著者

Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM

タイトル

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

雑誌

Nat Genet 39:1488-93 (2007)
DOI:10.1038/ng.2007.6

文献

PMID:21055718 (MYLK)

著者

Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM

タイトル

Mutations in myosin light chain kinase cause familial aortic dissections.

雑誌

Am J Hum Genet 87:701-7 (2010)
DOI:10.1016/j.ajhg.2010.10.006

文献

PMID:23910461 (PRKG1)

著者

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

タイトル

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

雑誌

Am J Hum Genet 93:398-404 (2013)
DOI:10.1016/j.ajhg.2013.06.019

文献

PMID:25434006 (MFAP5)

著者

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

タイトル

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

雑誌

Am J Hum Genet 95:736-43 (2014)
DOI:10.1016/j.ajhg.2014.10.018

文献

PMID:26838787 (LOX)

著者

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

タイトル

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

雑誌

Circ Res 118:928-34 (2016)
DOI:10.1161/CIRCRESAHA.115.307130

文献

PMID:26854927 (FOXE3)

著者

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

タイトル

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

雑誌

J Clin Invest 126:948-61 (2016)
DOI:10.1172/JCI83778

文献

PMID:32855533 (THSD4)

著者

Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noe B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M

タイトル

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

雑誌

Genet Med 23:111-122 (2021)
DOI:10.1038/s41436-020-00947-4

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