KEGG   DISEASE: 面皰母斑
エントリ  
H02722                                                             
名称    
面皰母斑
概要    
Nevus comedonicus (NC) is an organoid epidermal nevus characterized by monomorphic, large, open comedones occurring on a noninflammatory background and following the lines of Blaschko. The cause of NC has been proven to be somatic mutations of the NEK9 gene. NEK9 is a serine/threonine kinase that functions as an important regulator of cell-cycle and checkpoint control.
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
   LD2D  母斑症または過誤腫性腫瘍性症候群
    H02722  面皰母斑
パスウェイ 
hsa04820  Cytoskeleton in muscle cells
病因遺伝子 
NEK9 [HSA:91754] [KO:K20878]
リンク   
ICD-11: LD2D.Y
OMIM: 617025
文献    
  著者
Levinsohn JL, Sugarman JL, McNiff JM, Antaya RJ, Choate KA
  タイトル
Somatic Mutations in NEK9 Cause Nevus Comedonicus.
  雑誌
Am J Hum Genet 98:1030-1037 (2016)
DOI:10.1016/j.ajhg.2016.03.019
文献    
  著者
Tchernev G, Ananiev J, Semkova K, Dourmishev LA, Schonlebe J, Wollina U
  タイトル
Nevus comedonicus: an updated review.
  雑誌
Dermatol Ther (Heidelb) 3:33-40 (2013)
DOI:10.1007/s13555-013-0027-9
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