KEGG   DISEASE: 発作性夜間ヘモグロビン尿症
エントリ  
H01053                                                             
名称    
発作性夜間ヘモグロビン尿症
概要    
Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency or absence of all GPI-anchored proteins on the cell surface. This deficiency on erythrocytes leads to intravascular hemolysis since certain GPI anchored proteins normally function as complement regulators.
カテゴリ  
血液疾患
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  血液疾患
   H01053  発作性夜間ヘモグロビン尿症
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  貧血または他の赤血球系疾患
   溶血性貧血
    後天性溶血性貧血
     3A21  後天性溶血性貧血, 非免疫性
      H01053  発作性夜間ヘモグロビン尿症
指定難病 [jp08407.html]
 H01053
関連パスウェイ
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
病因遺伝子 
(PNH1) PIGA [HSA:5277] [KO:K03857]
(PNH2) PIGT [HSA:51604] [KO:K05292]
治療薬   
エクリズマブ [DR:D03940]
ラブリズマブ [DR:D11054]
リンク   
ICD-11: 3A21.0
ICD-10: D59.5
OMIM: 300818 615399
文献    
  著者
Savage WJ, Brodsky RA
  タイトル
New insights into paroxysmal nocturnal hemoglobinuria.
  雑誌
Hematology 12:371-6 (2007)
DOI:10.1080/10245330701562634
文献    
  著者
Brodsky RA
  タイトル
Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.
  雑誌
Blood Rev 22:65-74 (2008)
DOI:10.1016/j.blre.2007.10.002
文献    
PMID:8500164 (PIGA)
  著者
Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T
  タイトル
Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
  雑誌
Cell 73:703-11 (1993)
DOI:10.1016/0092-8674(93)90250-t
文献    
PMID:23733340 (PIGT)
  著者
Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H
  タイトル
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
  雑誌
Blood 122:1312-5 (2013)
DOI:10.1182/blood-2013-01-481499
LinkDB    

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