KEGG   DISEASE: 線維性軟骨発生症
エントリ  
H02080                                                             
名称    
線維性軟骨発生症
概要    
Fibrochondrogenesis is a very rare, neonatally lethal, short-limb skeletal dysplasia. It is an autosomal recessive disorder shown to result from mutations in the COL11A1 type XI collagen gene. Recently, It has been demonstrated that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2.
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
    H02080  線維性軟骨発生症
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H02080  線維性軟骨発生症
パスウェイ 
hsa04820 Cytoskeleton in muscle cells   
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
(FBCG1) COL11A1 [HSA:1301] [KO:K19721]
(FBCG2) COL11A2 [HSA:1302] [KO:K19721]
リンク   
ICD-11: LD24.3
MeSH: C562524
OMIM: 228520 614524
文献    
PMID:21035103 (FBCG1)
  著者
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH
  タイトル
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
  雑誌
Am J Hum Genet 87:708-12 (2010)
DOI:10.1016/j.ajhg.2010.10.009
文献    
PMID:22246659 (FBCG2)
  著者
Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH
  タイトル
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
  雑誌
Am J Med Genet A 158A:309-14 (2012)
DOI:10.1002/ajmg.a.34406
文献    
PMID:6507479
  著者
Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL
  タイトル
Fibrochondrogenesis: radiologic and histologic studies.
  雑誌
Am J Med Genet 19:277-90 (1984)
DOI:10.1002/ajmg.1320190210
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