KEGG   DISEASE: まだら症
エントリ  
H00170                                                             
名称    
まだら症
概要    
Piebaldism is caused by mutations of kit proto-oncogene implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected areas of the skin and hair.
カテゴリ  
先天性代謝異常症
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
    H00170  まだら症
パスウェイ 
hsa04916  Melanogenesis
hsa04010  MAPK signaling pathway
hsa04520  Adherens junction
病因遺伝子 
(PBT) KIT [HSA:3815] [KO:K05091]
リンク   
ICD-11: EC23.2Y
MeSH: D016116
OMIM: 172800
文献    
PMID:15485525
  著者
Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA
  タイトル
Piebaldism: an update.
  雑誌
Int J Dermatol 43:716-9 (2004)
DOI:10.1111/j.1365-4632.2004.02114.x
文献    
PMID:1717985 (PBT)
  著者
Giebel LB, Spritz RA
  タイトル
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.
  雑誌
Proc Natl Acad Sci U S A 88:8696-9 (1991)
DOI:10.1073/pnas.88.19.8696
LinkDB    

» English version

DBGET integrated database retrieval system