KEGG   DISEASE: Heyn-Sproul-Jackson 症候群
エントリ  
H02668                                                             
名称    
Heyn-Sproul-Jackson 症候群
概要    
Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. It has been reported that gain-of-function mutations in DNMT3A cause this disease.
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
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02668  Heyn-Sproul-Jackson 症候群
病因遺伝子 
DNMT3A [HSA:1788] [KO:K17398]
リンク   
ICD-11: LD20.2
OMIM: 615879
文献    
  著者
Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibanez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP
  タイトル
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
  雑誌
Nat Genet 51:96-105 (2019)
DOI:10.1038/s41588-018-0274-x
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