KEGG   DISEASE: 貧毛症および反復性皮膚小水疱
エントリ  
H00782                                                             
名称    
貧毛症および反復性皮膚小水疱
概要    
Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated with the 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
   EC21  毛髪または発毛の遺伝子異常
    H00782  貧毛症および反復性皮膚小水疱
病因遺伝子 
DSC3 [HSA:1825] [KO:K07602]
リンク   
ICD-11: EC21.3
MeSH: C567751
OMIM: 613102
文献    
PMID:19765682
  著者
Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W
  タイトル
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
  雑誌
Am J Hum Genet 85:515-20 (2009)
DOI:10.1016/j.ajhg.2009.08.015
文献    
PMID:20159115
  著者
Payne AS
  タイトル
No evidence of skin blisters with human desmocollin-3 gene mutation.
  雑誌
Am J Hum Genet 86:292; author reply 292 (2010)
DOI:10.1016/j.ajhg.2009.09.021
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