KEGG   DISEASE: 先天性心疾患・ 顔異形および知的発達障害
エントリ  
H02454                                                             
名称    
先天性心疾患・ 顔異形および知的発達障害
概要    
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations affecting the protein kinase domain of CDK13 cause this syndrome.
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
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02454  先天性心疾患・ 顔異形および知的発達障害
病因遺伝子 
CDK13 [HSA:8621] [KO:K08819]
リンク   
ICD-11: LD2F.1Y
OMIM: 617360
文献    
  著者
Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M
  タイトル
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
  雑誌
J Med Genet 55:28-38 (2018)
DOI:10.1136/jmedgenet-2017-104620
文献    
  著者
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
  タイトル
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
  雑誌
Nat Genet 48:1060-5 (2016)
DOI:10.1038/ng.3627
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