KEGG   DISEASE: 遺伝性球状赤血球症
エントリ  
H00230                                                             
名称    
遺伝性球状赤血球症
概要    
Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis.
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
      H00230  遺伝性球状赤血球症
病因遺伝子 
(SPH1) ANK1 [HSA:286] [KO:K10380]
(SPH2) SPTB [HSA:6710] [KO:K27409]
(SPH3) SPTA1 [HSA:6708] [KO:K27408]
(SPH4) SLC4A1 [HSA:6521] [KO:K06573]
(SPH5) EPB42 [HSA:2038] [KO:K25094]
リンク   
ICD-11: 3A10.Y
MeSH: D013103
OMIM: 182900 616649 270970 612653 612690
文献    
  著者
Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ
  タイトル
Guidelines for the diagnosis and management of hereditary spherocytosis.
  雑誌
Br J Haematol 126:455-74 (2004)
DOI:10.1111/j.1365-2141.2004.05052.x
文献    
  著者
Eber S, Lux SE
  タイトル
Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
  雑誌
Semin Hematol 41:118-41 (2004)
DOI:10.1053/j.seminhematol.2004.01.002
文献    
PMID:8640229 (ANK1)
  著者
Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schroter W, Forget BG, Lux SE
  タイトル
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
  雑誌
Nat Genet 13:214-8 (1996)
DOI:10.1038/ng0696-214
文献    
PMID:19538529 (SPTB)
  著者
Maciag M, Plochocka D, Adamowicz-Salach A, Burzynska B
  タイトル
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
  雑誌
Br J Haematol 146:326-32 (2009)
DOI:10.1111/j.1365-2141.2009.07759.x
文献    
PMID:8370581 (SPTA1)
  著者
Boivin P, Galand C, Devaux I, Lecomte MC, Garbarz M, Dhermy D
  タイトル
Spectrin alpha IIa variant in dominant and non-dominant spherocytosis.
  雑誌
Hum Genet 92:153-6 (1993)
DOI:10.1007/BF00219683
文献    
PMID:9233560 (SLC4A1)
  著者
Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M
  タイトル
Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
  雑誌
Br J Haematol 98:32-40 (1997)
DOI:10.1046/j.1365-2141.1997.1893005.x
文献    
PMID:2139792 (EPB42)
  著者
Ideguchi H, Nishimura J, Nawata H, Hamasaki N
  タイトル
A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis.
  雑誌
Br J Haematol 74:347-53 (1990)
DOI:10.1111/j.1365-2141.1990.tb02594.x
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