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Shwachman-Diamond syndrome 2

Summary

Excerpted from the GeneReview: Shwachman-Diamond Syndrome
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Adam Nelson
Kasiani Myers
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Available tests

16 tests are in the database for this condition.

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Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EFTUD1, FAM42A, HsT19294, RIA1, SDS2, EFL1
    Summary: elongation factor like GTPase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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