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GTR Home > Conditions/Phenotypes > Aplastic anemia


Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IFG, IFI, IMD69, IFNG
    Summary: interferon gamma

  • Also known as: AT-V1, AT-V2, ATV, NBS, NBS1, P95, NBN
    Summary: nibrin

  • Also known as: HPLH2, P1, PFP, PRF1
    Summary: perforin 1

  • Also known as: CGI-97, SDO1, SDS, SWDS, SBDS
    Summary: SBDS ribosome maturation factor

  • Also known as: CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT, TERT
    Summary: telomerase reverse transcriptase

Clinical features


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