KEGG   DISEASE: Aplastic anemia
H01132                      Disease                                
Aplastic anemia
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.
Hematologic disease
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H01132  Aplastic anemia
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06510  Telomere length regulation
   H01132  Aplastic anemia
  nt06506  Double-strand break repair
   H01132  Aplastic anemia
hsa04657  IL-17 signaling pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04659  Th17 cell differentiation
hsa04380  Osteoclast differentiation
hsa04612  Antigen processing and presentation
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]
Oxymetholone [DR:D00490]
Ticlopidine hydrochloride [DR:D01028]
Eltrombopag olamine [DR:D03978]
Other DBs
ICD-11: 3A70
ICD-10: D61.0
OMIM: 609135
PMID:20008219 (TERC, TERT)
Calado RT
Telomeres and marrow failure.
Hematology Am Soc Hematol Educ Program 338-43 (2009)
PMID:20953611 (IFNG)
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
Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
Ann Hematol 90:515-21 (2011)
PMID:17311987 (PRF1)
Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS
Perforin gene mutations in patients with acquired aplastic anemia.
Blood 109:5234-7 (2007)
PMID:17478638 (SBDS)
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
Mutations in the SBDS gene in acquired aplastic anemia.
Blood 110:1141-6 (2007)
PMID:15338273 (NBN)
Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
Hum Genet 115:372-6 (2004)

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