KEGG   DISEASE: 全身性脱毛症
エントリ  
H01158                                                             
名称    
全身性脱毛症
概要    
Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. 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
  特定の皮膚構造が関与する皮膚疾患
   表皮及び表皮付属器の疾患
    毛髪の疾患
     ED70  脱毛症
      H01158  全身性脱毛症
病因遺伝子 
HR [HSA:55806] [KO:K00478]
治療薬   
バリシチニブ [DR:D10308] (脱毛部位が広範囲に及ぶ)
リトレシチニブトシル酸塩 [DR:D11970]
リンク   
ICD-11: ED70.2
MeSH: C537055
OMIM: 203655
文献    
  著者
Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N
  タイトル
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
  雑誌
Dermatol Online J 17:3 (2011)
文献    
PMID:9445480
  著者
Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM
  タイトル
Alopecia universalis associated with a mutation in the human hairless gene.
  雑誌
Science 279:720-4 (1998)
DOI:10.1126/science.279.5351.720
文献    
PMID:9736769
  著者
Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM
  タイトル
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
  雑誌
Hum Mol Genet 7:1671-9 (1998)
DOI:10.1093/hmg/7.11.1671
LinkDB    

» English version

DBGET integrated database retrieval system