MCID: NTR011
MIFTS: 32

Neutrophil-Specific Granule Deficiency malady

Rare diseases, Blood diseases categories

Summaries for Neutrophil-Specific Granule Deficiency

About this section
Sources:
66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 Specific granules are secretory vesicles found exclusively in cells of the immune system called... more...

MalaCards: Neutrophil-Specific Granule Deficiency, also known as specific granule deficiency, is related to atherosclerosis and viral infectious disease. An important gene associated with Neutrophil-Specific Granule Deficiency is CEBPE (CCAAT/enhancer binding protein (C/EBP), epsilon), and among its related pathways are Transcriptional misregulation in cancer and Hepatitis C. The compounds lipoteichoic acid and oxygen have been mentioned in the context of this disorder. Affiliated tissues include myeloid and monocytes, and related mouse phenotypes are immune system and hematopoietic system.

Description from OMIM:48 245480

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

About this section
Sources:
44NIH Rare Diseases, 50Orphanet, 63UMLS, 48OMIM, 46Novoseek, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

50
recurrent infection due to specific granule deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neutrophil-specific granule deficiency 44 50
specific granule deficiency 44 48 46 63
recurrent infection due to specific granule deficiency 44 50
neutrophil lactoferrin deficiency 44 63
lactoferrin-deficient neutrophils 44


External Ids:

SNOMED-CT via Orphanet60 234431006
OMIM48 245480
ICD10 via Orphanet27 D71

Related Diseases for Neutrophil-Specific Granule Deficiency

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Neutrophil-Specific Granule Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis10.0IL8, SCARB1
2viral infectious disease9.9IL8, SCARB1

Symptoms for Neutrophil-Specific Granule Deficiency

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

245480

Clinical features from OMIM:

245480

Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Neutrophil-Specific Granule Deficiency

Drug clinical trials:

Search ClinicalTrials for Neutrophil-Specific Granule Deficiency

Search NIH Clinical Center for Neutrophil-Specific Granule Deficiency

Search CenterWatch for Neutrophil-Specific Granule Deficiency

Genetic Tests for Neutrophil-Specific Granule Deficiency

About this section

Anatomical Context for Neutrophil-Specific Granule Deficiency

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Neutrophil-Specific Granule Deficiency:

34
Myeloid, Monocytes

Animal Models for Neutrophil-Specific Granule Deficiency or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5IL8, CEBPE, SCARB1
2MP:00053978.2IL8, CEBPE, SCARB1

Publications for Neutrophil-Specific Granule Deficiency

About this section
Sources:
53PubMed
See all sources

Articles related to Neutrophil-Specific Granule Deficiency:

(show all 12)
idTitleAuthorsYear
1
Neutrophil-specific granule deficiency. (23294125)
2013
2
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. (16407388)
2006
3
Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. (16204633)
2005
4
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. (14576362)
2004
5
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). (11753076)
2002
6
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. (11313242)
2001
7
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. (10359588)
1999
8
A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan. (8018907)
1994
9
Neutrophil-specific granule deficiency includes eosinophils. (8324226)
1993
10
Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. (2536400)
1989
11
Neutrophil specific granule deficiency. (3888052)
1985
12
Human neutrophil-specific granule deficiency: a model to assess the role of neutrophil-specific granules in the evolution of the inflammatory response. (7044447)
1982

Variations for Neutrophil-Specific Granule Deficiency

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Neutrophil-Specific Granule Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1CEBPECEBPE, 5-BP DEL, NT224deletionPathogenic/card/neutrophil_specific_granule_deficiency
2CEBPECEBPE, 1-BP INS, 1113AinsertionPathogenic/card/neutrophil_specific_granule_deficiency

Expression for genes affiliated with Neutrophil-Specific Granule Deficiency

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Neutrophil-Specific Granule Deficiency

Search GEO for disease gene expression data for Neutrophil-Specific Granule Deficiency.

Pathways for genes affiliated with Neutrophil-Specific Granule Deficiency

About this section
Sources:
51PathCards, 31KEGG
See all sources

Pathways related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3IL8, CEBPE
29.1IL8, SCARB1

Compounds for genes affiliated with Neutrophil-Specific Granule Deficiency

About this section
Sources:
46Novoseek, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 12DrugBank
See all sources

Compounds related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipoteichoic acid469.1IL8, SCARB1
2oxygen46 2510.1IL8, SCARB1
3simvastatin46 52 62 30 25 1214.0IL8, SCARB1
4nitric oxide46 25 1210.8IL8, SCARB1

GO Terms for genes affiliated with Neutrophil-Specific Granule Deficiency

About this section
Sources:
17Gene Ontology
See all sources

Biological processes related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to lipopolysaccharideGO:0712229.3IL8, CEBPE

Molecular functions related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.0CEBPE, SCARB1

Products for genes affiliated with Neutrophil-Specific Granule Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neutrophil-Specific Granule Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet