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GTR Home > Conditions/Phenotypes > Acute promyelocytic leukemia

Acute promyelocytic leukemia

Summary

Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NMP-22, NUMA, NUMA1
    Summary: nuclear mitotic apparatus protein 1

  • Also known as: NR1B1, RAR, RARalpha, RARA
    Summary: retinoic acid receptor alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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