H01132 | |
H number | H01132 |
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 |
Network | - |
Gene | 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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Oxymetholone [DR:D00490] Ticlopidine hydrochloride [DR:D01028] Eltrombopag olamine [DR:D03978] |
Comment | - |
Other DBs | ICD-11: 3A70 ICD-10: D61.0 OMIM: 609135 |
Reference | PMID:20008219 (TERC, TERT) 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 PMID:20953611 (IFNG) 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 PMID:17311987 (PRF1) AUTHORS Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS TITLE Perforin gene mutations in patients with acquired aplastic anemia. JOURNAL Blood 109:5234-7 (2007) DOI:10.1182/blood-2006-12-063495 PMID:17478638 (SBDS) AUTHORS Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS TITLE Mutations in the SBDS gene in acquired aplastic anemia. JOURNAL Blood 110:1141-6 (2007) DOI:10.1182/blood-2007-03-080044 PMID:15338273 (NBN) AUTHORS Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M TITLE First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. JOURNAL Hum Genet 115:372-6 (2004) DOI:10.1007/s00439-004-1155-1 |