Details of Disease | DrugMAP

General Information of Disease (ID: DISL32CF)

Disease Name	Specific granule deficiency 1
Synonyms	lactoferrin-deficient neutrophils; neutrophil lactoferrin deficiency; SGD1; specific granule deficiency; specific granule deficiency caused by mutation in CEBPE; CEBPE specific granule deficiency; specific granule deficiency 1
Definition	Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.
Disease Hierarchy	DISXJ6Y2: Specific granule deficiency DISL32CF: Specific granule deficiency 1
Disease Identifiers	MONDO ID MONDO_0044207 UMLS CUI C4551556 OMIM ID 245480 MedGen ID 1644049

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEBPE	OTKZA25M	Strong	Autosomal recessive	[1]
SMARCD2	OTQTBWHW	Definitive	GermlineCausalMutation	[2]
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References

1	CCAAT/enhancer binding protein epsilon is critical for effective neutrophil-mediated response to inflammatory challenge. Blood. 1999 May 1;93(9):3096-105.
2	Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet. 2017 May;49(5):742-752. doi: 10.1038/ng.3833. Epub 2017 Apr 3.