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GTR Home > Conditions/Phenotypes > Specific granule deficiency 1

Specific granule deficiency 1

Synonyms
LACTOFERRIN-DEFICIENT NEUTROPHILS; NEUTROPHIL LACTOFERRIN DEFICIENCY

Summary

Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. [from MONDO]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C/EBP-epsilon, CRP1, IMD108, SGD1, c/EBP epsilon, CEBPE
    Summary: CCAAT enhancer binding protein epsilon

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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