KEGG   DISEASE: 遺伝性汎発性色素異常症
エントリ  
H02350                                                             
名称    
遺伝性汎発性色素異常症
概要    
Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least two causative genes, ABCB6 and SASH1, have been reported.
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
    H02350  遺伝性汎発性色素異常症
病因遺伝子 
(DUH1) SASH1 [HSA:23328] [KO:K23705]
(DUH3) ABCB6 [HSA:10058] [KO:K05661]
リンク   
ICD-11: EC23.Y
MeSH: C535730
OMIM: 127500 615402
文献    
  著者
Zhong WL, Wang HJ, Lin ZM, Yang Y
  タイトル
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria.
  雑誌
Indian J Dermatol Venereol Leprol 85:440 (2019)
DOI:10.4103/ijdvl.IJDVL_360_17
文献    
  著者
Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
  タイトル
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
  雑誌
PLoS One 8:e79808 (2013)
DOI:10.1371/journal.pone.0079808
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