KEGG   DISEASE: Olmsted 症候群
エントリ  
H02517                                                             
名称    
Olmsted 症候群
概要    
Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching.
カテゴリ  
先天奇形
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
   EC20  遺伝性角化症
    H02517  Olmsted 症候群
病因遺伝子 
(OLMS1) TRPV3 [HSA:162514] [KO:K04972]
(OLMS2) PERP [HSA:64065] [KO:K10136]
(OLMSX) MBTPS2 [HSA:51360] [KO:K07765]
リンク   
ICD-11: EC20.30
OMIM: 614594 619208 300918
文献    
  著者
Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y
  タイトル
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
  雑誌
Am J Hum Genet 90:558-64 (2012)
DOI:10.1016/j.ajhg.2012.02.006
文献    
  著者
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschke P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A
  タイトル
Mutations in PERP Cause Dominant and Recessive Keratoderma.
  雑誌
J Invest Dermatol 139:380-390 (2019)
DOI:10.1016/j.jid.2018.08.026
文献    
  著者
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP
  タイトル
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
  雑誌
J Invest Dermatol 133:571-3 (2013)
DOI:10.1038/jid.2012.289
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