KEGG   DISEASE: 解糖系酵素障害による貧血
エントリ  
H00664                                                             
名称    
解糖系酵素障害による貧血
概要    
Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with specific mutations affecting TPI, PGK and, in rare cases, GPI. The symptoms of TPI deficiency are generally much more severe than those of any other glycolytic enzyme deficiency.
カテゴリ  
血液疾患
階層分類  
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
    先天性溶血性貧血
     3A10  遺伝性溶血性貧血
      H00664  解糖系酵素障害による貧血
パスウェイ 
hsa00010  Glycolysis / Gluconeogenesis
病因遺伝子 
HK1 [HSA:3098] [KO:K00844]
PGK1 [HSA:5230] [KO:K00927]
TPI1 [HSA:7167] [KO:K01803]
GPI [HSA:2821] [KO:K01810]
BPGM [HSA:669] [KO:K01837]
リンク   
ICD-11: 3A10.Y
MeSH: C567067 C566029
OMIM: 235700 300653 615512 613470 222800
文献    
PMID:10699493
  著者
Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI
  タイトル
Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia.
  雑誌
Biochim Biophys Acta 1474:75-87 (2000)
DOI:10.1016/S0304-4165(99)00218-4
文献    
PMID:12393545 (HK1)
  著者
van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW
  タイトル
HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.
  雑誌
Blood 101:345-7 (2003)
DOI:10.1182/blood-2002-06-1851
文献    
PMID:1547346 (PGK1)
  著者
Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S
  タイトル
A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.
  雑誌
Blood 79:1582-5 (1992)
DOI:10.1182/blood.V79.6.1582.1582
文献    
PMID:7628118 (TPI1)
  著者
Pekrun A, Neubauer BA, Eber SW, Lakomek M, Seidel H, Schroter W
  タイトル
Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis.
  雑誌
Clin Genet 47:175-9 (1995)
DOI:10.1111/j.1399-0004.1995.tb03955.x
文献    
PMID:8499925 (GPI)
  著者
Walker JI, Layton DM, Bellingham AJ, Morgan MJ, Faik P
  タイトル
DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency.
  雑誌
Hum Mol Genet 2:327-9 (1993)
DOI:10.1093/hmg/2.3.327
文献    
PMID:15054810 (BPGM)
  著者
Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
  タイトル
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
  雑誌
Am J Hematol 75:205-8 (2004)
DOI:10.1002/ajh.20014
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