KEGG   DISEASE: X連鎖魚鱗癬
エントリ  
H00134                                                             
名称    
X連鎖魚鱗癬
  上位グループ
先天性魚鱗癬 [DS:H01771]
概要    
X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome or autism.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC20  遺伝性角化症
    H00134  X連鎖魚鱗癬
パスウェイ 
hsa00140  Steroid hormone biosynthesis
病因遺伝子 
STS [HSA:412] [KO:K01131]
リンク   
ICD-11: EC20.01
MeSH: D016114
OMIM: 308100
文献    
  著者
Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV
  タイトル
Steroid sulfatase: molecular biology, regulation, and inhibition.
  雑誌
Endocr Rev 26:171-202 (2005)
DOI:10.1210/er.2004-0003
文献    
PMID:9252398
  著者
Alperin ES, Shapiro LJ
  タイトル
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
  雑誌
J Biol Chem 272:20756-63 (1997)
DOI:10.1074/jbc.272.33.20756
文献    
  著者
Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, McMahon R, Yates JR
  タイトル
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
  雑誌
J Med Genet 45:519-24 (2008)
DOI:10.1136/jmg.2008.057729
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