KEGG   DISEASE: Tatton-Brown-Rahman 症候群
エントリ  
H02294                                                             
名称    
Tatton-Brown-Rahman 症候群
概要    
Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis.
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
   LD2C  過(剰)成長症候群
    H02294  Tatton-Brown-Rahman 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06535  エフェロサイトーシス
   H02294  Tatton-Brown-Rahman 症候群
パスウェイ 
hsa00270  Cysteine and methionine metabolism
ネットワーク
nt06535 Efferocytosis
病因遺伝子 
DNMT3A [HSA:1788] [KO:K17398]
リンク   
ICD-11: LD2C
OMIM: 615879
文献    
PMID:27991732
  著者
Kosaki R, Terashima H, Kubota M, Kosaki K
  タイトル
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
  雑誌
Am J Med Genet A 173:250-253 (2017)
DOI:10.1002/ajmg.a.37995
文献    
PMID:24614070
  著者
Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N, van Montfort R, Rahman N
  タイトル
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
  雑誌
Nat Genet 46:385-8 (2014)
DOI:10.1038/ng.2917
LinkDB    

» English version

DBGET integrated database retrieval system