KEGG   DISEASE: 家族性進行性色素増加症
エントリ  
H00884                                                             
名称    
家族性進行性色素増加症
概要    
Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented area are the features of this disease.
カテゴリ  
皮膚疾患
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
   EC23  皮膚色素沈着の遺伝性疾患
    H00884  家族性進行性色素増加症
パスウェイ 
hsa04916  Melanogenesis
hsa04014  Ras signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04010  MAPK signaling pathway
病因遺伝子 
KITLG [HSA:4254] [KO:K05461]
リンク   
ICD-11: EC23.0
MeSH: C564163
OMIM: 145250
文献    
  著者
Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M
  タイトル
KITLG mutations cause familial progressive hyper- and hypopigmentation.
  雑誌
J Invest Dermatol 131:1234-9 (2011)
DOI:10.1038/jid.2011.29
文献    
  著者
Passeron T, Mantoux F, Ortonne JP
  タイトル
Genetic disorders of pigmentation.
  雑誌
Clin Dermatol 23:56-67 (2005)
DOI:10.1016/j.clindermatol.2004.09.013
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