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GTR Home > Conditions/Phenotypes > Neutropenia, severe congenital, 10, autosomal recessive

Neutropenia, severe congenital, 10, autosomal recessive

Summary

Autosomal recessive severe congenital neutropenia-10 (SCN10) is characterized by infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Anemia and thrombocytopenia may be transiently present. The disorder results from impaired development of granulocyte precursors and neutrophils (Schmaltz-Panneau et al., 2021). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: SCN10, SRP68
    Summary: signal recognition particle 68

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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