KEGG   DISEASE: 進行性偽リウマチ性異形成
エントリ  
H00758                                                             
名称    
進行性偽リウマチ性異形成;
進行性関節症を伴う遅延性脊椎骨端異形成
  上位グループ
脊椎骨端異形成 [DS:H02462]
概要    
Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that leads to stiffness and swelling of joints. The disease is caused by mutations of the WISP3 gene.
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
    H00758  進行性偽リウマチ性異形成
病因遺伝子 
WISP3 [HSA:8838] [KO:K23090]
リンク   
ICD-11: LD24.3
ICD-10: Q77.7
MeSH: C535387
OMIM: 208230
文献    
PMID:9222963
  著者
el-Shanti HE, Omari HZ, Qubain HI
  タイトル
Progressive pseudorheumatoid dysplasia: report of a family and review.
  雑誌
J Med Genet 34:559-63 (1997)
DOI:10.1136/jmg.34.7.559
文献    
PMID:17596985
  著者
Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N
  タイトル
Progressive pseudorheumatoid dysplasia: three cases in one family.
  雑誌
Joint Bone Spine 74:393-5 (2007)
DOI:10.1016/j.jbspin.2006.11.014
文献    
PMID:17483925
  著者
Zhou HD, Bu YH, Peng YQ, Xie H, Wang M, Yuan LQ, Jiang Y, Li D, Wei QY, He YL, Xiao T, Ni JD, Liao EY
  タイトル
Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation.
  雑誌
J Mol Med (Berl) 85:985-96 (2007)
DOI:10.1007/s00109-007-0193-2
文献    
PMID:16152649
  著者
Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Megarbane A
  タイトル
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
  雑誌
Am J Med Genet A 138A:118-26 (2005)
DOI:10.1002/ajmg.a.30906

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
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