Details of Disease | DrugMAP

General Information of Disease (ID: DISXJ6Y2)

Disease Name	Specific granule deficiency
Synonyms	lactoferrin-deficient neutrophils; SGD; neutrophil lactoferrin deficiency; recurrent infection due to specific granule deficiency; specific granule deficiency; neutrophil-specific granule deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DISXLK81: Functional neutrophil defect DIS30VAM: Defective phagocytic cell engulfment DISXJ6Y2: Specific granule deficiency
Disease Identifiers	MONDO ID MONDO_0009506 MESH ID C562873 UMLS CUI C0398593 MedGen ID 140766 Orphanet ID 169142 SNOMED CT ID 234431006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BPI	TTXCSDR	Strong	Genetic Variation	[1]
LTF	TTSZDQU	Strong	Altered Expression	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEBPE	OTKZA25M	Supportive	Autosomal recessive	[3]
SMARCD2	OTQTBWHW	Supportive	Autosomal recessive	[4]
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References

1	Expression of bactericidal/permeability-increasing protein requires C/EBP epsilon.Int J Hematol. 2007 May;85(4):304-11. doi: 10.1532/IJH97.05162.
2	The molecular biology of selected phagocyte defects.Blood Rev. 1989 Jun;3(2):94-104. doi: 10.1016/0268-960x(89)90004-0.
3	Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. J Exp Med. 1999 Jun 7;189(11):1847-52. doi: 10.1084/jem.189.11.1847.
4	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.