KEGG   DISEASE: Winchester 症候群
エントリ  
H02089                                                             
名称    
Winchester 症候群
概要    
Winchester syndrome is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, nodulosis, and arthropathy (MONA) [DS:H00472] were presumed to be allelic disorders arising from mutations in the MMP2 gene. But it has been demonstrated that mutations in MMP14 result in this disease.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  骨症または軟骨変性症
   FB86  骨成長に関連する疾患
    H02089  Winchester 症候群
病因遺伝子 
MMP14 [HSA:4323] [KO:K07763]
コメント  
See also H00472.
リンク   
ICD-11: FB86.2
OMIM: 277950
文献    
PMID:4238825
  著者
Winchester P, Grossman H, Lim WN, Danes BS
  タイトル
A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis.
  雑誌
Am J Roentgenol Radium Ther Nucl Med 106:121-8 (1969)
DOI:10.2214/ajr.106.1.121
文献    
  著者
Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, Glucksman MJ, Martignetti JA
  タイトル
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.
  雑誌
Am J Hum Genet 91:572-6 (2012)
DOI:10.1016/j.ajhg.2012.07.022
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