KEGG   DISEASE: 再生不良性貧血
エントリ  
H01132                                                             
名称    
再生不良性貧血
概要    
Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase components TERT or TERC. Immunosuppressive therapy (IST) is one of the main treatment modalities for AA, although most patients with telomerase mutations do not respond adequately to IST.
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
   H01132  再生不良性貧血
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
   3A70  再生不良性貧血
    H01132  再生不良性貧血
特定疾患 (難病) [jp08407.html]
 H01132
関連パスウェイ
hsa04657  IL-17 signaling pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04659  Th17 cell differentiation
hsa04380  Osteoclast differentiation
hsa04612  Antigen processing and presentation
病因遺伝子 
TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
IFNG [HSA:3458] [KO:K04687]
PRF1 [HSA:5551] [KO:K07818]
SBDS [HSA:51119] [KO:K14574]
NBN [HSA:4683] [KO:K10867]
治療薬   
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
シクロスポリン [DR:D00184]
メテノロン酢酸エステル [DR:D01375]
ヒドロコルチゾン [DR:D00088]
コルチゾン酢酸エステル [DR:D00973]
ベタメタゾン [DR:D00244]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
メチルプレドニゾロン酢酸エステル [DR:D00979]
テストステロンエナント酸エステル [DR:D00958]
葉酸 [DR:D00070]
ロミプロスチム [DR:D08990]
エルトロンボパグ オラミン [DR:D03978]
シクロホスファミド水和物 [DR:D00287]
抗ヒト胸腺細胞ウサギ免疫グロブリン [DR:D09190]
リンク   
ICD-11: 3A70
ICD-10: D61.0
OMIM: 609135
文献    
PMID:20008219 (TERC, TERT)
  著者
Calado RT
  タイトル
Telomeres and marrow failure.
  雑誌
Hematology Am Soc Hematol Educ Program 338-43 (2009)
DOI:10.1182/asheducation-2009.1.338
文献    
PMID:20953611 (IFNG)
  著者
Lee YG, Kim I, Kim JH, Bae JY, Kwon JH, Shin DY, Lee JE, Song EY, Kim HK, Yoon SS, Park SS, Lee DS, Han KS, Park MH, Hong YC, Park S, Kim BK
  タイトル
Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
  雑誌
Ann Hematol 90:515-21 (2011)
DOI:10.1007/s00277-010-1102-2
文献    
PMID:17311987 (PRF1)
  著者
Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS
  タイトル
Perforin gene mutations in patients with acquired aplastic anemia.
  雑誌
Blood 109:5234-7 (2007)
DOI:10.1182/blood-2006-12-063495
文献    
PMID:17478638 (SBDS)
  著者
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
  タイトル
Mutations in the SBDS gene in acquired aplastic anemia.
  雑誌
Blood 110:1141-6 (2007)
DOI:10.1182/blood-2007-03-080044
文献    
PMID:15338273 (NBN)
  著者
Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M
  タイトル
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
  雑誌
Hum Genet 115:372-6 (2004)
DOI:10.1007/s00439-004-1155-1
LinkDB    

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