KEGG   DISEASE: 歌舞伎症候群
エントリ  
H00570                                                             
名称    
歌舞伎症候群
概要    
Kabuki syndrome, or Kabuki make-up syndrome (KABUK), is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d.
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H00570  歌舞伎症候群
指定難病 [jp08407.html]
 H00570
パスウェイ 
hsa00310  Lysine degradation
病因遺伝子 
(KABUK1) KMT2D [HSA:8085] [KO:K09187]
(KABUK2) KDM6A [HSA:7403] [KO:K11447]
リンク   
ICD-11: LD2F.1Y
MeSH: C537705
OMIM: 147920 300867
文献    
  著者
Adam MP, Hudgins L
  タイトル
Kabuki syndrome: a review.
  雑誌
Clin Genet 67:209-19 (2005)
DOI:10.1111/j.1399-0004.2004.00348.x
文献    
  著者
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ
  タイトル
Kabuki syndrome: a review study of three hundred patients.
  雑誌
Clin Dysmorphol 11:95-102 (2002)
DOI:10.1097/00019605-200204000-00004
文献    
  著者
Adam MP, Hudgins L, Hannibal M
  タイトル
Kabuki Syndrome
  雑誌
GeneReviews (1993)
文献    
  著者
Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH
  タイトル
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
  雑誌
Hum Mol Genet 24:4443-53 (2015)
DOI:10.1093/hmg/ddv180
LinkDB    

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