MCID: NTR011
MIFTS: 25

Neutrophil-Specific Granule Deficiency malady

Rare diseases, Blood diseases categories

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

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Sources:
41NIH Rare Diseases, 60UMLS, 47Orphanet, 26ICD10 via Orphanet
See all sources

Neutrophil-Specific Granule Deficiency, Aliases & Descriptions:

Name: Neutrophil-Specific Granule Deficiency 41 47
Recurrent Infection Due to Specific Granule Deficiency 41 47
Specific Granule Deficiency 41 60
 
Neutrophil Secondary Granule Deficiency 60
Neutrophil Lactoferrin Deficiency 41
Lactoferrin-Deficient Neutrophils 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
recurrent infection due to specific granule deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 169142
ICD10 via Orphanet26 D71

Summaries for Neutrophil-Specific Granule Deficiency

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MalaCards based summary: Neutrophil-Specific Granule Deficiency, also known as recurrent infection due to specific granule deficiency, is related to specific granule deficiency and atherosclerosis. 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.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1specific granule deficiency10.8
2atherosclerosis9.9IL8, SCARB1
3viral infectious disease9.7IL8, SCARB1

Symptoms for Neutrophil-Specific Granule Deficiency

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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:

31
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:

35
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 Variation 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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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 Suite gene sharing:

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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1lipoteichoic acid439.1IL8, SCARB1
2oxygen43 2410.1IL8, SCARB1
3simvastatin43 49 59 28 24 1214.0IL8, SCARB1
4nitric oxide43 24 1210.8IL8, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular response to lipopolysaccharideGO:00712229.3IL8, CEBPE

Molecular functions related to Neutrophil-Specific Granule Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428039.0CEBPE, SCARB1

Products for genes affiliated with Neutrophil-Specific Granule Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neutrophil-Specific Granule Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet