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Aplastic anemia

Summary

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]

Available tests

136 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (136 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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, hNbs1, 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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Imported from Human Phenotype Ontology (HPO)

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