KEGG   DISEASE: パキスタン型脊椎骨端骨幹端異形成
エントリ  
H00761                                                             
名称    
パキスタン型脊椎骨端骨幹端異形成;
短体幹症 4型
  上位グループ
短体幹症 [DS:H00522]
脊椎骨端骨幹端異形成 [DS:H02187]
概要    
Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported.
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
    H00761  パキスタン型脊椎骨端骨幹端異形成
パスウェイ 
hsa00230  Purine metabolism
hsa00450  Selenocompound metabolism
hsa00920  Sulfur metabolism
病因遺伝子 
PAPSS2 [HSA:9060] [KO:K13811]
リンク   
ICD-11: LD24.3
MeSH: C567551
OMIM: 612847
文献    
PMID:9714015
  著者
Ahmad M, Haque MF, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH
  タイトル
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
  雑誌
Am J Med Genet 78:468-73 (1998)
DOI:10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D
文献    
PMID:9771708
  著者
Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH
  タイトル
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
  雑誌
Nat Genet 20:157-62 (1998)
DOI:10.1038/2458
文献    
PMID:22791835
  著者
Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
  タイトル
PAPSS2 mutations cause autosomal recessive brachyolmia.
  雑誌
J Med Genet 49:533-8 (2012)
DOI:10.1136/jmedgenet-2012-101039
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