KEGG   DISEASE: 耳顔面神経発達障害症候群
エントリ  
H02812                                                             
名称    
耳顔面神経発達障害症候群
概要    
Otofacial neurodevelopmental syndrome (OFNS) is a novel syndromic neurodevelopmental disorder characterized by global developmental delay, facial asymmetry and malformations of the outer ear. It has been reported that mutations in ZSCAN10 cause this disease. ZSCAN10 encodes a transcription factor and is regarded as an important member of the pluripotency-associated transcription factor network.
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
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02812  耳顔面神経発達障害症候群
病因遺伝子 
ZSCAN10 [HSA:84891] [KO:K09230]
リンク   
ICD-11: LD90.Y
OMIM: 620910
文献    
  著者
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB
  タイトル
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
  雑誌
Brain 147:2471-2482 (2024)
DOI:10.1093/brain/awae058
文献    
  著者
Yamane M, Fujii S, Ohtsuka S, Niwa H
  タイトル
Zscan10 is dispensable for maintenance of pluripotency in mouse embryonic stem cells.
  雑誌
Biochem Biophys Res Commun 468:826-31 (2015)
DOI:10.1016/j.bbrc.2015.11.039
LinkDB    

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