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GTR Home > Conditions/Phenotypes > Myelodysplastic syndrome

Myelodysplastic syndrome

Synonyms
MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO; Myelodysplastic Syndrome, Susceptibility, GATA2-Related; Myelodysplastic syndrome, somatic; Myelodysplastic syndromes

Summary

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011). [from OMIM]

Available tests

166 tests are in the database for this condition.

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Clinical tests (165 available)

Cytogenetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: BOPS, MDS, ASXL1
    Summary: ASXL transcriptional regulator 1

  • Also known as: DCML, IMD21, MONOMAC, NFE1B, GATA2
    Summary: GATA binding protein 2

  • Also known as: HG2A, MDS, MRD42, GNB1
    Summary: G protein subunit beta 1

  • Also known as: Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155, SF3B1
    Summary: splicing factor 3b subunit 1

  • Also known as: IMD75, KIAA1546, MDS, TET2
    Summary: tet methylcytosine dioxygenase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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