KEGG   DISEASE: Torg 症候群
エントリ  
H00472                                                             
名称    
Torg 症候群;
Torg-Winchester 症候群;
多中心性骨溶解・結節・関節症
概要    
Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are reported in patients with Torg-Winchester syndrome.
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
    H00472  Torg 症候群
パスウェイ 
hsa04915  Estrogen signaling pathway
hsa04912  GnRH signaling pathway
病因遺伝子 
MMP2 [HSA:4313] [KO:K01398]
リンク   
ICD-11: FB86.2
MeSH: C536051
OMIM: 259600
文献    
PMID:10861676
  著者
Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA
  タイトル
Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.
  雑誌
Am J Med Genet 93:11-8 (2000)
DOI:10.1002/1096-8628(20000703)93:1<11::AID-AJMG3>3.0.CO;2-3
文献    
PMID:17059372
  著者
Zankl A, Pachman L, Poznanski A, Bonafe L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A
  タイトル
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
  雑誌
J Bone Miner Res 22:329-33 (2007)
DOI:10.1359/jbmr.061013
文献    
PMID:20720557
  著者
Jeong SY, Kim BY, Kim HJ, Yang JA, Kim OH
  タイトル
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
  雑誌
J Hum Genet 55:764-6 (2010)
DOI:10.1038/jhg.2010.102
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