KEGG   DISEASE: 黄色爪症候群
エントリ  
H03009                                                             
名称    
黄色爪症候群
概要    
Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of nail abnormalities, chronic respiratory disease, and primary lymphoedema. Because most patients lack a positive family history, and given the typically late onset of the disease as well as the potential recovery of nail changes, YNS is generally not considered to be a primarily genetic disease. However, recent studies have suggested that defects in planar cell polarity (PCP) organization may play an important role in the pathogenesis of YNS.
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
    爪または爪周囲の疾患
     EE11  爪の色の後天性異常
      H03009  黄色爪症候群
病因遺伝子 
CELSR1 [HSA:9620] [KO:K04600]
リンク   
ICD-11: EE11.1
MeSH: D056684
OMIM: 153300
文献    
  著者
Kurolap A, Chai Gadot C, Eshach Adiv O, Hershkovitz T, Avitan-Hersh E, Martin L, Humeau H, Schatz UA, Westphal DS, Lobmaier S, Sofrin-Drucker E, Stafler P, Bugis J, Chermesh I, Hardak E, Geva P, Zohar Y, Hershkovitz D, Mory A, Chatterji S, Greenberger S, Shteinberg M, Baris Feldman H
  タイトル
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
  雑誌
Ann Intern Med 178:39-49 (2025)
DOI:10.7326/ANNALS-24-01101
文献    
  著者
Hoque SR, Mansour S, Mortimer PS
  タイトル
Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature.
  雑誌
Br J Dermatol 156:1230-4 (2007)
DOI:10.1111/j.1365-2133.2007.07894.x
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