KEGG   DISEASE: Snijders Blok-Fisher 症候群
エントリ  
H02387                                                             
名称    
Snijders Blok-Fisher 症候群
概要    
Snijders Blok-Fisher syndrome (SNIBFIS)  is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the central nervous system.
カテゴリ  
精神及び行動の障害
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 06 精神, 行動, 神経発達の障害
  神経発達症
   6A0Y  その他の明示された神経発達症
    H02387  Snijders Blok-Fisher 症候群
病因遺伝子 
POU3F3 [HSA:5455] [KO:K09365]
リンク   
ICD-11: 6A0Y
OMIM: 618604
文献    
PMID:31303265
  著者
Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Ounap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE
  タイトル
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
  雑誌
Am J Hum Genet 105:403-412 (2019)
DOI:10.1016/j.ajhg.2019.06.007
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