MCID: NTR011
MIFTS: 33

Neutrophil-Specific Granule Deficiency malady

Rare diseases, Blood diseases categories
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Summaries for Neutrophil-Specific Granule Deficiency

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Wikipedia:65 Specific granules are secretory vesicles found exclusively in cells of the immune system called... more...

MalaCards based summary: Neutrophil-Specific Granule Deficiency, also known as specific granule deficiency, is related to atherosclerosis and viral infectious disease, and has symptoms including 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 neutrophil, testes and myeloid, and related mouse phenotypes are immune system and hematopoietic system.

Description from OMIM:46 245480

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Neutrophil-Specific Granule Deficiency, Aliases & Descriptions:

Name: Neutrophil-Specific Granule Deficiency 42 48
Specific Granule Deficiency 42 46 44 62
Recurrent Infection Due to Specific Granule Deficiency 42 48
 
Neutrophil Lactoferrin Deficiency 42 62
Neutrophil Specific Granule Deficiency 62
Lactoferrin-Deficient Neutrophils 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
recurrent infection due to specific granule deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 245480
ICD10 via Orphanet26 D71

Related Diseases for Neutrophil-Specific Granule Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis9.9IL8, SCARB1
2viral infectious disease9.8IL8, SCARB1

Symptoms for Neutrophil-Specific Granule Deficiency

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Symptoms by clinical synopsis from OMIM:

245480

Clinical features from OMIM:

245480

HPO human phenotypes related to Neutrophil-Specific Granule Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 recurrent infections HP:0002719
3 hyposegmentation of neutrophil nuclei HP:0011447
4 absent neutrophil specific granules HP:0012551

Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

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Drug clinical trials:

Search ClinicalTrials for Neutrophil-Specific Granule Deficiency

Search NIH Clinical Center for Neutrophil-Specific Granule Deficiency

Genetic Tests for Neutrophil-Specific Granule Deficiency

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Anatomical Context for Neutrophil-Specific Granule Deficiency

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

32
Neutrophil, Testes, Myeloid, Monocytes

Animal Models for Neutrophil-Specific Granule Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5IL8, CEBPE, SCARB1
2MP:00053978.2IL8, CEBPE, SCARB1

Publications for Neutrophil-Specific Granule Deficiency

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Articles related to Neutrophil-Specific Granule Deficiency:

(show all 13)
idTitleAuthorsYear
1
Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test. (25081842)
2014
2
Neutrophil-specific granule deficiency. (23294125)
2013
3
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. (16407388)
2006
4
Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. (16204633)
2005
5
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. (14576362)
2004
6
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). (11753076)
2002
7
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. (11313242)
2001
8
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. (10359588)
1999
9
A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan. (8018907)
1994
10
Neutrophil-specific granule deficiency includes eosinophils. (8324226)
1993
11
Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. (2536400)
1989
12
Neutrophil specific granule deficiency. (3888052)
1985
13
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

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Clinvar genetic disease variations for Neutrophil-Specific Granule Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1CEBPECEBPE, 5-BP DEL, NT224deletionPathogenic
2CEBPECEBPE, 1-BP INS, 1113AinsertionPathogenic

Expression for genes affiliated with Neutrophil-Specific Granule Deficiency

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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

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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

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

idCompoundScoreTop Affiliating Genes
1lipoteichoic acid449.1IL8, SCARB1
2oxygen44 2410.1IL8, SCARB1
3simvastatin44 50 61 28 24 1114.0IL8, SCARB1
4nitric oxide44 24 1110.8IL8, SCARB1

GO Terms for genes affiliated with Neutrophil-Specific Granule Deficiency

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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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Neutrophil-Specific Granule Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet