MCID: NTR011
MIFTS: 25

Neutrophil-Specific Granule Deficiency

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

MalaCards integrated aliases for Neutrophil-Specific Granule Deficiency:

Name: Neutrophil-Specific Granule Deficiency 50 56
Recurrent Infection Due to Specific Granule Deficiency 50 56
Specific Granule Deficiency 50 69
Neutrophil Secondary Granule Deficiency 69
Lactoferrin-Deficient Neutrophils 50
Neutrophil Lactoferrin Deficiency 50

Characteristics:

Orphanet epidemiological data:

56
recurrent infection due to specific granule deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

Orphanet 56 ORPHA169142
ICD10 via Orphanet 34 D71

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 and cranioectodermal dysplasia 1. 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, monocytes and myeloid, and related phenotype is mortality/aging.

Related Diseases for Neutrophil-Specific Granule Deficiency

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

id Related Disease Score Top Affiliating Genes
1 specific granule deficiency 10.4
2 cranioectodermal dysplasia 1 8.9 CEBPE GATA1 SPI1
3 nguyen syndrome 7.8 CEBPE GATA1 SCARB1 SMARCD2 SPI1
4 autism 18 7.6 CEBPE GATA1 SCARB1 SMARCD2 SPI1

Symptoms & Phenotypes for Neutrophil-Specific Granule Deficiency

MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

44
id 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:

39
Neutrophil, Monocytes, Myeloid, Testes

Publications for Neutrophil-Specific Granule Deficiency

Articles related to Neutrophil-Specific Granule Deficiency:

(show all 15)
id Title Authors Year
1
Role of the Leucine Zipper Domain of CCAAT/ Enhancer Binding Protein-Epsilon (C/EBPI/) in Neutrophil-Specific Granule Deficiency. ( 28322138 )
2016
2
A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPI/ 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

ClinVar genetic disease variations for Neutrophil-Specific Granule Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CEBPE CEBPE, 5-BP DEL, NT224 deletion Pathogenic
2 CEBPE CEBPE, 1-BP INS, 1113A insertion Pathogenic
3 SMARCD2 NM_001098426.1(SMARCD2): c.1181+1G> A single nucleotide variant Pathogenic rs1057518731 GRCh37 Chromosome 17, 61911268: 61911268
4 SMARCD2 NM_001098426.1(SMARCD2): c.414_438dup25 (p.Gln147Glufs) duplication Pathogenic rs1057518732 GRCh37 Chromosome 17, 61914561: 61914585
5 SMARCD2 NM_001098426.1(SMARCD2): c.401+2T> C single nucleotide variant Pathogenic rs1057518733 GRCh38 Chromosome 17, 63837439: 63837439

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:

id Super pathways Score Top Affiliating Genes
1 11.41 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.71 CEBPE GATA1 SMARCD2 SPI1
2 transcription, DNA-templated GO:0006351 9.67 CEBPE GATA1 SMARCD2 SPI1
3 transcription from RNA polymerase II promoter GO:0006366 9.5 CEBPE GATA1 SPI1
4 erythrocyte differentiation GO:0030218 9.26 GATA1 SPI1
5 myeloid cell differentiation GO:0030099 9.16 CEBPE GATA1
6 macrophage differentiation GO:0030225 8.96 CEBPE SPI1
7 granulocyte differentiation GO:0030851 8.32 SPI1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.63 CEBPE GATA1 SPI1
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.43 GATA1 SPI1
3 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 9.4 GATA1 SPI1
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.37 SMARCD2 SPI1
5 core promoter binding GO:0001047 9.32 GATA1 SPI1
6 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.26 GATA1 SPI1
7 RNA polymerase II transcription factor binding GO:0001085 9.16 GATA1 SPI1
8 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.13 CEBPE GATA1 SPI1
9 RNA polymerase II core promoter proximal region 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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