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GTR Home > Conditions/Phenotypes > Shwachman-Diamond syndrome 1

Shwachman-Diamond syndrome 1

Summary

Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common. [from GeneReviews]

Available tests

83 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (83 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMFS3, DNAJA5, GS3, JJJ1, DNAJC21
    Summary: DnaJ heat shock protein family (Hsp40) member C21

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

  • Also known as: SCN8, SRP54
    Summary: signal recognition particle 54

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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