KEGG   DISEASE: ブルック症候群
エントリ  
H00514                                                             
名称    
ブルック症候群
概要    
Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita.
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
   LD24  主な特徴として骨格の異常を伴う症候群
    H00514  ブルック症候群
病因遺伝子 
(BRKS1) FKBP10 [HSA:60681] [KO:K09575]
(BRKS2) PLOD2 [HSA:5352] [KO:K13645]
リンク   
ICD-11: LD24.KY
MeSH: C537406 C537407
OMIM: 259450 609220
文献    
PMID:21567934 (BRKS1)
  著者
Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS
  タイトル
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
  雑誌
Am J Med Genet A 155A:1448-52 (2011)
DOI:10.1002/ajmg.a.34025
文献    
PMID:15523624 (BRKS2)
  著者
Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L
  タイトル
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
  雑誌
Am J Med Genet A 131:115-20 (2004)
DOI:10.1002/ajmg.a.30231
LinkDB    

» English version

DBGET integrated database retrieval system