MCID: NTR011
MIFTS: 28

Neutrophil-Specific Granule Deficiency

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

MalaCards integrated aliases for Neutrophil-Specific Granule Deficiency:

Name: Neutrophil-Specific Granule Deficiency 54 60
Recurrent Infection Due to Specific Granule Deficiency 54 60
Specific Granule Deficiency 54 74
Neutrophil Secondary Granule Deficiency 74
Neutrophil Specific Granule Deficiency 38
Lactoferrin-Deficient Neutrophils 54
Neutrophil Lactoferrin Deficiency 54

Characteristics:

Orphanet epidemiological data:

60
recurrent infection due to specific granule deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

KEGG 38 H02024
ICD10 via Orphanet 35 D71
Orphanet 60 ORPHA169142

Summaries for Neutrophil-Specific Granule Deficiency

MalaCards based summary : Neutrophil-Specific Granule Deficiency, also known as recurrent infection due to specific granule deficiency, is related to specific granule deficiency 1 and specific granule deficiency 2. An important gene associated with Neutrophil-Specific Granule Deficiency is CEBPE (CCAAT Enhancer Binding Protein Epsilon), and among its related pathways/superpathways are Transcriptional misregulation in cancer and C-MYB transcription factor network. Affiliated tissues include neutrophil, myeloid and testes, and related phenotype is mortality/aging.

Wikipedia : 77 Neutrophil-specific granule deficiency ( previously known as lactoferrin deficiency) is a rare... more...

Related Diseases for Neutrophil-Specific Granule Deficiency

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

# Related Disease Score Top Affiliating Genes
1 specific granule deficiency 1 30.7 CEBPE SMARCD2
2 specific granule deficiency 2 12.7
3 diarrhea 10.0
4 chediak-higashi syndrome 9.8
5 erythroleukemia, familial 9.7 GATA1 SPI1
6 leukemia, acute myeloid 9.4 CEBPE GATA1 SPI1

Graphical network of the top 20 diseases related to Neutrophil-Specific Granule Deficiency:



Diseases related to Neutrophil-Specific Granule Deficiency

Symptoms & Phenotypes for Neutrophil-Specific Granule Deficiency

MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.02 CEBPE GATA1 SCARB1 SMARCD2 SPI1

Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

Search Clinical Trials , NIH Clinical Center for Neutrophil-Specific Granule Deficiency

Genetic Tests for Neutrophil-Specific Granule Deficiency

Anatomical Context for Neutrophil-Specific Granule Deficiency

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

42
Neutrophil, Myeloid, Testes, Monocytes

Publications for Neutrophil-Specific Granule Deficiency

Articles related to Neutrophil-Specific Granule Deficiency:

(show all 15)
# Title Authors Year
1
Role of the Leucine Zipper Domain of CCAAT/ Enhancer Binding Protein-Epsilon (C/EBPε) in Neutrophil-Specific Granule Deficiency. ( 28322138 )
2016
2
A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency. ( 26019275 )
2015
3
Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test. ( 25081842 )
2014
4
Neutrophil-specific granule deficiency. ( 23294125 )
2013
5
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. ( 16407388 )
2006
6
Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. ( 16204633 )
2005
7
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. ( 14576362 )
2004
8
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). ( 11753076 )
2002
9
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. ( 11313242 )
2001
10
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. ( 10359588 )
1999
11
A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan. ( 8018907 )
1994
12
Neutrophil-specific granule deficiency includes eosinophils. ( 8324226 )
1993
13
Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. ( 2536400 )
1989
14
Neutrophil specific granule deficiency. ( 3888052 )
1985
15
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

Expression for Neutrophil-Specific Granule Deficiency

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

Pathways for Neutrophil-Specific Granule Deficiency

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

# Super pathways Score Top Affiliating Genes
1 11.43 CEBPE SPI1
2 10.85 GATA1 SPI1
3 10.3 GATA1 SPI1

GO Terms for Neutrophil-Specific Granule Deficiency

Cellular components related to Neutrophil-Specific Granule Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.62 SMARCD2 SPI1

Biological processes related to Neutrophil-Specific Granule Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.5 CEBPE GATA1 SPI1
2 erythrocyte differentiation GO:0030218 9.26 GATA1 SPI1
3 myeloid cell differentiation GO:0030099 9.16 CEBPE GATA1
4 macrophage differentiation GO:0030225 8.96 CEBPE SPI1
5 granulocyte differentiation GO:0030851 8.62 CEBPE SPI1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.43 CEBPE GATA1 SPI1
2 RNA polymerase II transcription factor binding GO:0001085 9.16 GATA1 SPI1
3 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.13 GATA1 SMARCD2 SPI1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.92 CEBPE GATA1 SMARCD2 SPI1

Sources for Neutrophil-Specific Granule Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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