KEGG   DISEASE: 頭蓋-レンズ-縫合異形成
エントリ  
H01105                                                             
名称    
頭蓋-レンズ-縫合異形成
概要    
Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
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
  主に1つの体系に影響する構造的発達異常
   骨格の構造的発達異常
    LB70  頭蓋の構造的発達異常
     H01105  頭蓋-レンズ-縫合異形成
パスウェイ 
hsa04141  Protein processing in endoplasmic reticulum
病因遺伝子 
SEC23A [HSA:10484] [KO:K14006]
リンク   
ICD-11: LB70.Y
MeSH: C564332
OMIM: 607812
文献    
  著者
Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J
  タイトル
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
  雑誌
Clin Genet 80:169-76 (2011)
DOI:10.1111/j.1399-0004.2010.01550.x
文献    
  著者
Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W
  タイトル
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
  雑誌
Nat Genet 38:1192-7 (2006)
DOI:10.1038/ng1876
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