Specific Granule Deficiency malady

Wikipedia: Specific granules are secretory vesicles found exclusively in cells of the immune system called...⁴⁴ more...

MalaCards: Specific Granule Deficiency is related to neutrophil-specific granule deficiency and intrauterine infections. An important gene associated with Specific Granule Deficiency is CEBPE (CCAAT/enhancer binding protein (C/EBP), epsilon). The compounds probucol and lipoteichoic acid have been mentioned in the context of this disorder. Affiliated tissues include monocytes, and related mouse phenotypes are immune system and hematopoietic system.

OMIM: 245480

specific granule deficiency 7 33 32 43

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

(show all 37)

id	Related Disease	Score	Top Affiliating Genes
1	neutrophil-specific granule deficiency	32.1	CEBPE, IL8, SCARB1
2	intrauterine infections	12.5	IL8, LTF
3	polyarteritis nodosa	12.5	IL8, LTF
4	proctitis	12.5	IL8, LTF
5	bacterial vaginosis	12.5	IL8, LTF
6	clostridium difficile	12.5	LTF, IL8
7	chronic granulomatous disease	12.5	IL8, LTF
8	chorioamnionitis	12.5	LTF, IL8
9	reactive arthritis	12.5	IL8, LTF
10	urethritis	12.5	IL8, LTF
11	gastrointestinal system disease	12.5	LTF, IL8
12	keratoconjunctivitis	12.5	LTF, IL8
13	periodontal disease	12.5	IL8, LTF
14	glycogen storage disease type ia	12.4	SCARB1, IL8
15	mastitis	12.4	IL8, LTF
16	haemophilus influenzae	12.4	IL8, LTF
17	primary sclerosing cholangitis	12.4	IL8, LTF
18	septic shock	12.4	IL8, LTF
19	sclerosing cholangitis	12.4	IL8, LTF
20	cork-handlers' disease	12.3	IL8, LTF
21	pulmonary sarcoidosis	12.3	LTF, IL8
22	familial hypercholesterolemia	12.3	SCARB1, IL8
23	gastric ulcer	12.2	IL8, LTF
24	glycogen storage disease	12.2	IL8, SCARB1
25	crohn's disease	12.2	IL8, LTF
26	shigellosis	12.1	LTF, IL8
27	severe congenital neutropenia	12.1	IL8, GFI1, CEBPE
28	hematopoiesis	12.1	GFI1, IL8, CEBPE
29	bronchitis	12.0	IL8, LTF
30	myelodysplastic syndrome	12.0	IL8, GFI1, LTF
31	periodontitis	11.9	LTF, IL8, GFI1
32	keratitis	11.8	LTF, IL8
33	peritonitis	11.7	IL8, LTF, SCARB1
34	retinoblastoma	11.7	LTF, IL8, CEBPE
35	neutropenia	11.6	CEBPE, GFI1, LTF, IL8
36	lung carcinoma	11.4	SCARB1, IL8, LTF, GFI1
37	leukemia	10.9	IL8, LTF, CEBPE, GFI1, SCARB1

Clinical features from OMIM: 245480

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to specific granule deficiency:

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MGI Mouse Phenotypes related to specific granule deficiency:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system phenotype	MP:0005387	7.5	LTF, IL8, CEBPE, SCARB1, GFI1
2	hematopoietic system phenotype	MP:0005397	7.2	SCARB1, CEBPE, IL8, LTF, GFI1

Articles related to specific granule deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene. (17244686)	Khanna-Gupta A.... Berliner N.	2007	GFI1, CEBPE
2	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
3	Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. (14576362)	Shiohara M.... Komiyama A.	2004	IL8, CEBPE
4	Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). (11753076)	Gombart A.F.... Koeffler H.P.	2002	CEBPE
5	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 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, Summaries
2	SCARB1	scavenger receptor class B, member 1	11.1	Publications
3	LTF	lactotransferrin	11.1
4	IL8	interleukin 8	11.1	Publications
5	GFI1	growth factor independent 1 transcription repressor	11.0	Publications

Compounds related to specific granule deficiency according to GeneDecks:

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	probucol32 9 9	11.6	LTF, SCARB1
2	lipoteichoic acid32	9.3	IL8, SCARB1
3	clarithromycin32 9 9	11.3	LTF, IL8
4	polymyxin b32	9.3	LTF, IL8
5	budesonide32 42 9 9	12.3	LTF, IL8
6	protamine32	9.2	LTF, IL8
7	methacholine32 9 9	11.2	IL8, LTF
8	erythromycin32 9 9	11.1	LTF, IL8
9	n-formylmethionyl-leucylphenylalanine32	9.1	IL8, LTF
10	pentoxifylline32 9 9	11.0	LTF, IL8
11	leukotriene b432 42 18	11.0	LTF, IL8
12	neopterin32	8.9	IL8, LTF
13	aprotinin32 9 9	10.7	LTF, IL8

Biological processes related to specific granule deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	defense response to bacterium	GO:042742	9.4	CEBPE, LTF
2	cellular response to lipopolysaccharide	GO:071222	8.4	CEBPE, IL8, GFI1