KEGG   DISEASE: Aplastic anemia
Entry
H01132                      Disease                                

Name
Aplastic anemia
Description
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.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01132  Aplastic anemia
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
Related
pathway
hsa04657  IL-17 signaling pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04659  Th17 cell differentiation
hsa04380  Osteoclast differentiation
hsa04612  Antigen processing and presentation
Gene
TERC [HSA:7012] [KO:K22183]
TERT [HSA:7015] [KO:K11126]
IFNG [HSA:3458] [KO:K04687]
Drug
Oxymetholone [DR:D00490]
Ticlopidine hydrochloride [DR:D01028]
Eltrombopag olamine [DR:D03978]
Other DBs
ICD-11: 3A70
ICD-10: D61.0
OMIM: 609135
Reference
  Authors
Calado RT
  Title
Telomeres and marrow failure.
  Journal
Hematology Am Soc Hematol Educ Program 338-43 (2009)
DOI:10.1182/asheducation-2009.1.338
Reference
  Authors
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
  Title
Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
  Journal
Ann Hematol 90:515-21 (2011)
DOI:10.1007/s00277-010-1102-2
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