KEGG   DISEASE: 丘疹を伴う無毛症
エントリ  
H00780                                                             
名称    
丘疹を伴う無毛症
概要    
Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations in hairless gene, whose defects brings about complete hair loss in mice. It is inherited in autosomal recessive manner.
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
    H00780  丘疹を伴う無毛症
病因遺伝子 
HR [HSA:55806] [KO:K00478]
リンク   
ICD-11: EC21.2
MeSH: C565924
OMIM: 209500
文献    
  著者
Yip L, Horev L, Sinclair R, Zlotogorski A
  タイトル
Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.
  雑誌
Acta Derm Venereol 88:346-9 (2008)
DOI:10.2340/00015555-0466
文献    
  著者
Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W
  タイトル
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
  雑誌
J Dermatol 38:755-60 (2011)
DOI:10.1111/j.1346-8138.2010.01151.x
文献    
  著者
Lee D, Kim SH, Chun JS, Joo MH, Kim JY, Hwang SW, Kang HJ, Park SW, Sung HS
  タイトル
Detection of a novel missense mutations in atrichia with papular lesions.
  雑誌
Ann Dermatol 23:132-7 (2011)
DOI:10.5021/ad.2011.23.2.132
文献    
  著者
Wang J, Malloy PJ, Feldman D
  タイトル
Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions.
  雑誌
J Biol Chem 282:25231-9 (2007)
DOI:10.1074/jbc.M702939200
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