KEGG   DISEASE: ゴーシェ病
エントリ  
H00126                                                             

名称    
ゴーシェ病
  上位グループ
スフィンゴリピドーシス [DS:H00423]
リソソーム蓄積症 (ライソゾーム病) [DS:H01425]
進行性ミオクローヌスてんかん [DS:H00810]
概要    
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The sub-types are Type 1, 2 and 3.
カテゴリ  
先天性代謝異常症; リソソーム蓄積症
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  先天性脂質・糖脂質代謝異常症
   H00126  ゴーシェ病
  リソソーム蓄積症
   H00126  ゴーシェ病
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C56  ライソゾーム病
     H00126  ゴーシェ病
関連パスウェイ
hsa04142  Lysosome
hsa00511  Other glycan degradation
hsa00600  Sphingolipid metabolism
ネットワーク
nt06014  Sphingolipid degradation
  エレメント
N00641  GBA deficiency in lactosylceramide hydrolysis
N00643  Loss of saposin stimulation
N00679  Glucosylceramide synthesis in GBA deficiency
病因遺伝子 
GBA; glucosylceramidase [HSA:2629] [KO:K01201]
PSAP; prosaposin [HSA:5660] [KO:K12382]
治療薬   
イミグルセラーゼ [DR:D03020]
ベラグルセラーゼアルファ [DR:D09029]
エリグルスタット酒石酸塩 [DR:D09894]
コメント  
The most common mutations: N370S, L444P, 84GG, IVS2+1G>A, V394L, del55bp, D409H, R496H, and RecNciI.
リンク   
ICD-11: 5C56.0Y
ICD-10: E75.2
MeSH: D005776
OMIM: 230800 230900 231000 231005 608013 610539
文献    
  著者
Heese BA
  タイトル
Current strategies in the management of lysosomal storage diseases.
  雑誌
Semin Pediatr Neurol 15:119-26 (2008)
DOI:10.1016/j.spen.2008.05.005
文献    
  著者
Butters TD
  タイトル
Gaucher disease.
  雑誌
Curr Opin Chem Biol 11:412-8 (2007)
DOI:10.1016/j.cbpa.2007.05.035
文献    
  著者
Sidransky E
  タイトル
Gaucher disease: complexity in a "simple" disorder.
  雑誌
Mol Genet Metab 83:6-15 (2004)
DOI:10.1016/j.ymgme.2004.08.015
文献    
  著者
Wenger DA, Coppola S, Liu SL
  タイトル
Insights into the diagnosis and treatment of lysosomal storage diseases.
  雑誌
Arch Neurol 60:322-8 (2003)
DOI:10.1001/archneur.60.3.322
文献    
PMID:23400823 (mutations)
  著者
Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A
  タイトル
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
  雑誌
Am J Hematol 88:179-84 (2013)
DOI:10.1002/ajh.23382
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