KEGG   DISEASE: 先天性爪甲硬厚症
エントリ  
H00684                      Disease                                
名称    
先天性爪甲硬厚症
  下位グループ
Jadassohn-Lewandowsky 症候群
Jackson-Lawler syndrome 症候群
概要    
Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H00684  先天性爪甲硬厚症
パスウェイ 
hsa04915  Estrogen signaling pathway
病因遺伝子 
(PC1) KRT16 [HSA:3868] [KO:K07604]
(PC2) KRT17 [HSA:3872] [KO:K07604]
(PC3) KRT6A [HSA:3853] [KO:K07605]
(PC4) KRT6B [HSA:3854] [KO:K07605]
リンク   
ICD-11: LD27.Y
MeSH: D053549
OMIM: 167200 167210 615726 615728
文献    
PMID:21890491
  著者
McLean WH, Moore CB
  タイトル
Keratin disorders: from gene to therapy.
  雑誌
Hum Mol Genet 20:R189-97 (2011)
DOI:10.1093/hmg/ddr379
文献    
PMID:21326300
  著者
Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ
  タイトル
A large mutational study in pachyonychia congenita.
  雑誌
J Invest Dermatol 131:1018-24 (2011)
DOI:10.1038/jid.2011.20
文献    
PMID:7545493
  著者
Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ
  タイトル
Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
  雑誌
Nat Genet 10:363-5 (1995)
DOI:10.1038/ng0795-363
文献    
PMID:7539673
  著者
McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al.
  タイトル
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
  雑誌
Nat Genet 9:273-8 (1995)
DOI:10.1038/ng0395-273
文献    
PMID:9618173
  著者
Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH
  タイトル
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
  雑誌
Hum Mol Genet 7:1143-8 (1998)
DOI:10.1093/hmg/7.7.1143
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