Neutrophil-specific Granule Deficiency malady

MalaCards: Neutrophil-specific Granule Deficiency, also known as specific granule deficiency, is related to specific granule deficiency and severe congenital neutropenia. An important gene associated with Neutrophil-specific Granule Deficiency is CEBPE (CCAAT/enhancer binding protein (C/EBP), epsilon), and among its related pathways is Hepatitis C. The compounds simvastatin and lipoteichoic acid have been mentioned in the context of this disorder. Affiliated tissues include monocytes, and related mouse phenotype hematopoietic system.

neutrophil-specific granule deficiency 30 specific granule deficiency 30 43 recurrent infection due to specific granule deficiency 30

lactoferrin-deficient neutrophils 30 neutrophil lactoferrin deficiency 30

Diseases related to neutrophil-specific granule deficiency by text searches and GeneDecks gene sharing:

(show all 14)

id	Related Disease	Score	Top Affiliating Genes
1	specific granule deficiency	31.5	SCARB1, CEBPE, IL8
2	severe congenital neutropenia	12.6	IL8, CEBPE
3	neutropenia	12.5	CEBPE, IL8
4	glycogen storage disease type ia	12.4	SCARB1, IL8
5	familial hypercholesterolemia	12.4	SCARB1, IL8
6	glycogen storage disease	12.3	SCARB1, IL8
7	congenital heart defect	12.3	IL8, SCARB1
8	age related macular degeneration	12.2	SCARB1, IL8
9	hypercholesterolemia	12.2	SCARB1, IL8
10	aldosteronism	12.1	IL8, SCARB1
11	viral infectious disease	12.1	SCARB1, IL8
12	hyperglycemia	12.0	SCARB1, IL8
13	macular degeneration	11.8	SCARB1, IL8
14	lactoferrin-deficient neutrophils	7.8

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to neutrophil-specific granule deficiency:

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MGI Mouse Phenotypes related to neutrophil-specific granule deficiency:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	8.5	SCARB1, CEBPE, IL8

Articles related to neutrophil-specific granule deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. (16204633)	Gombart A.F.... Koeffler H.P.	2005	SCARB1, CEBPE
2	Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. (14576362)	Shiohara M.... Komiyama A.	2004	IL8, CEBPE
3	Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). (11753076)	Gombart A.F.... Koeffler H.P.	2002	CEBPE
4	Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. (10359588)	Lekstrom-Himes J.A.... Gallin J.I.	1999	CEBPE

Genes related to neutrophil-specific granule deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CEBPE	CCAAT/enhancer binding protein (C/EBP), epsilon	11.1	Publications
2	SCARB1	scavenger receptor class B, member 1	11.1	Publications
3	IL8	interleukin 8	11.1	Publications

Pathways related to neutrophil-specific granule deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Hepatitis C20	9.1	SCARB1, IL8

Compounds related to neutrophil-specific granule deficiency according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	simvastatin32 34 42 9 18 9	14.1	SCARB1, IL8
2	lipoteichoic acid32	8.8	SCARB1, IL8

Biological processes related to neutrophil-specific granule deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to lipopolysaccharide	GO:071222	9.3	CEBPE, IL8