KEGG   DISEASE: 先天性心疾患および外胚葉異形成
エントリ  
H02453                                                             
名称    
先天性心疾患および外胚葉異形成
概要    
Congenital heart defects and ectodermal dysplasia (CHDED) is one of the syndromic congenital heart defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal (dry skin, teeth and nail defects) and limb abnormalities. CHDED individuals with de novo missense mutations in PRKD1 have been identified. PRKD1 encodes a serine/threonine protein kinase that regulates diverse cellular functions.
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
    H02453  先天性心疾患および外胚葉異形成
病因遺伝子 
PRKD1 [HSA:5587] [KO:K06070]
リンク   
ICD-11: LD2F.1Y
OMIM: 617364
文献    
PMID:27479907
  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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