MCID: NTR011
MIFTS: 26

Neutrophil-Specific Granule Deficiency malady

Blood category

Summaries for Neutrophil-Specific Granule Deficiency

Sources:
47OMIM, 33MalaCards
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MalaCards: Neutrophil-Specific Granule Deficiency, also known as specific granule deficiency, is related to protein s deficiency and protein c deficiency. 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 simvastatin and lipoteichoic acid 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:47 245480

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
recurrent infection due to specific granule deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neutrophil-specific granule deficiency 43 49
specific granule deficiency 43 47 45 61
recurrent infection due to specific granule deficiency 43 49
neutrophil lactoferrin deficiency 43 61
lactoferrin-deficient neutrophils 43


External Ids:

OMIM47 245480
ICD10 via Orphanet26 D71

Related Diseases for Neutrophil-Specific Granule Deficiency

Sources:
17GeneCards, 18GeneDecks
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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
1protein s deficiency10.4
2protein c deficiency10.4
3protein r deficiency10.4
4t cell deficiency10.3
5decr deficiency10.3
6coronary heart disease10.0SCARB1
7malaria10.0SCARB1
8viral infectious disease10.0IL8, SCARB1

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



Diseases related to neutrophil-specific granule deficiency

Clinical Features for Neutrophil-Specific Granule Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

245480

Clinical synopsis from OMIM:

245480

Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Neutrophil-Specific Granule Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Neutrophil-Specific Granule Deficiency:

33
Myeloid, Monocytes

Animal Models for Neutrophil-Specific Granule Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5CEBPE, IL8, SCARB1
2MP:00053978.2CEBPE, IL8, SCARB1

Publications for Neutrophil-Specific Granule Deficiency

Sources:
51PubMed
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Articles related to Neutrophil-Specific Granule Deficiency:

(show all 13)
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
Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency. (2841356)
1988
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

Genetic Variations for Neutrophil-Specific Granule Deficiency

Expression for genes affiliated with Neutrophil-Specific Granule Deficiency

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG
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Pathways related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Neutrophil-Specific Granule Deficiency

Sources:
45Novoseek, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1simvastatin45 50 60 29 11 2414.1IL8, SCARB1
2lipoteichoic acid458.8IL8, SCARB1

GO Terms for genes affiliated with Neutrophil-Specific Granule Deficiency

Sources:
16Gene Ontology
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Biological processes related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

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

Products for genes affiliated with Neutrophil-Specific Granule Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neutrophil-Specific Granule Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet