KEGG DISEASE: 心房中隔欠損

DISEASE: 心房中隔欠損

エントリ

H00546

名称

心房中隔欠損

概要

Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases have been implicated in the disease.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  主に1つの体系に影響する構造的発達異常
   循環器系の構造的発達異常
    心臓または大血管の構造的発達異常
     LA8E  心房中隔の先天異常
      H00546  心房中隔欠損
パスウェイに基づく疾患分類 [BR:jp08402]
細胞プロセス
  nt06539  筋細胞の細胞骨格
   H00546  心房中隔欠損

パスウェイ

hsa04820

Cytoskeleton in muscle cells

ネットワーク

nt06539 Cytoskeleton in muscle cells

病因遺伝子

(ASD2) GATA4 [HSA:2626] [KO:K09183]
(ASD3) MYH6 [HSA:4624] [KO:K17751]
(ASD4) TBX20 [HSA:57057] [KO:K10185]
(ASD5) ACTC1 [HSA:70] [KO:K12314]
(ASD6) TLL1 [HSA:7092] [KO:K09608]
(ASD7) NKX2-5 [HSA:1482] [KO:K09345]
(ASD8) CITED2 [HSA:10370] [KO:K21361]
(ASD9) GATA6 [HSA:2627] [KO:K17897]

リンク

ICD-11:

LA8E

MeSH:

D006344

OMIM:

108800 607941 614089 611363 612794 613087 108900 614433 614475

文献

PMID:20012542

著者

Posch MG, Perrot A, Berger F, Ozcelik C

タイトル

Molecular genetics of congenital atrial septal defects.

雑誌

Clin Res Cardiol 99:137-47 (2010)
DOI:10.1007/s00392-009-0095-0

文献

PMID:11376442

著者

Vaughan CJ, Basson CT

タイトル

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.

雑誌

Am J Med Genet 97:304-9 (2000)
DOI:10.1002/1096-8628(200024)97:4<304::AID-AJMG1281>3.0.CO;2-#

文献

PMID:12845333 (GATA4)

著者

Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D

タイトル

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

雑誌

Nature 424:443-7 (2003)
DOI:10.1038/nature01827

文献

PMID:15735645 (MYH6)

著者

Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD

タイトル

Mutation in myosin heavy chain 6 causes atrial septal defect.

雑誌

Nat Genet 37:423-8 (2005)
DOI:10.1038/ng1526

文献

PMID:17668378 (TBX20)

著者

Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP

タイトル

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.

雑誌

Am J Hum Genet 81:280-91 (2007)
DOI:10.1086/519530

文献

PMID:17947298 (ACTC1)

著者

Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegardh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N

タイトル

Alpha-cardiac actin mutations produce atrial septal defects.

雑誌

Hum Mol Genet 17:256-65 (2008)
DOI:10.1093/hmg/ddm302

文献

PMID:18830233 (TLL1)

著者

Stanczak P, Witecka J, Szydlo A, Gutmajster E, Lisik M, Augusciak-Duma A, Tarnowski M, Czekaj T, Czekaj H, Sieron AL

タイトル

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.

雑誌

Eur J Hum Genet 17:344-51 (2009)
DOI:10.1038/ejhg.2008.175

文献

PMID:9651244 (NKX2-5)

著者

Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG

タイトル

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

雑誌

Science 281:108-11 (1998)
DOI:10.1126/science.281.5373.108

文献

PMID:16287139 (CITED2)

著者

Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S

タイトル

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.

雑誌

Hum Mutat 26:575-82 (2005)
DOI:10.1002/humu.20262

文献

PMID:20631719 (GATA6)

著者

Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH

タイトル

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

雑誌

J Hum Genet 55:662-7 (2010)
DOI:10.1038/jhg.2010.84

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