KEGG   DISEASE: Snijders Blok-Campeau 症候群
エントリ  
H02614                                                             
名称    
Snijders Blok-Campeau 症候群
  上位グループ
巨頭症を伴う神経発達障害 [DS:H02616]
概要    
Snijders Blok-Campeau syndrome (SNIBCPS) is a neurodevelopmental syndrome characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic facial features. It has been reported that mutations in CHD3 cause this disease. CHD3 is a core component of the NuRD complex, which possesses both chromatin remodeling and histone deacetylation activities.
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
   H02614  Snijders Blok-Campeau 症候群
病因遺伝子 
CHD3 [HSA:1107] [KO:K11642]
リンク   
ICD-11: LD90.Y
MeSH: C000729467
OMIM: 618205
文献    
  著者
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM
  タイトル
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  雑誌
Nat Commun 9:4619 (2018)
DOI:10.1038/s41467-018-06014-6
文献    
  著者
Pierson TM, Otero MG, Grand K, Choi A, Graham JM Jr, Young JI, Mackay JP
  タイトル
The NuRD complex and macrocephaly associated neurodevelopmental disorders.
  雑誌
Am J Med Genet C Semin Med Genet 181:548-556 (2019)
DOI:10.1002/ajmg.c.31752
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