KEGG   DISEASE: MICPCH 症候群
エントリ  
H01921                                                             
名称    
MICPCH 症候群
  上位グループ
X 連鎖知的発達障害症候群 [DS:H00658]
概要    
Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly, and pontine and cerebellar hypoplasia. MICPCH syndrome is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN.
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
    H01921  MICPCH 症候群
病因遺伝子 
CASK [HSA:8573] [KO:K06103]
コメント  
See also H00658 Syndromic X-linked mental retardation.
リンク   
ICD-11: LD20.2
ICD-10: Q04.3
MeSH: C567466
OMIM: 300749
文献    
  著者
Saleem R, Setty G, Hussain N
  タイトル
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.
  雑誌
Indian J Hum Genet 19:104-7 (2013)
DOI:10.4103/0971-6866.112921
文献    
  著者
Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J
  タイトル
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
  雑誌
Hum Genet 131:99-110 (2012)
DOI:10.1007/s00439-011-1047-0
文献    
  著者
Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K
  タイトル
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
  雑誌
Nat Genet 40:1065-7 (2008)
DOI:10.1038/ng.194
LinkDB    

» English version

DBGET integrated database retrieval system