MCID: NTR011
MIFTS: 23

Neutrophil-Specific Granule Deficiency malady

Blood diseases category

Summaries for Neutrophil-Specific Granule Deficiency

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Specific granules are secretory vesicles found exclusively in cells of the immune system called... more...

MalaCards: Neutrophil-Specific Granule Deficiency, also known as specific granule deficiency, is related to coronary heart disease and malaria. 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. 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, 48Orphanet, 60UMLS, 46OMIM, 44Novoseek, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

neutrophil-specific granule deficiency 42 48
specific granule deficiency 42 46 44 60
recurrent infection due to specific granule deficiency 42 48
neutrophil lactoferrin deficiency 42 60
lactoferrin-deficient neutrophils 42


External Ids:

SNOMED-CT via Orphanet57 234431006
OMIM46 245480
ICD10 via Orphanet26 D71

Related Diseases for Neutrophil-Specific Granule Deficiency

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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
1coronary heart disease10.0SCARB1
2malaria10.0SCARB1
3viral infectious disease10.0IL8, SCARB1

Clinical Features for Neutrophil-Specific Granule Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

245480

Clinical synopsis from OMIM:

245480

Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Neutrophil-Specific Granule Deficiency

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Animal Models for Neutrophil-Specific Granule Deficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

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

Publications for Neutrophil-Specific Granule Deficiency

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Genetic Variations for Neutrophil-Specific Granule Deficiency

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Expression for genes affiliated with Neutrophil-Specific Granule Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
29KEGG
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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

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Sources:
44Novoseek, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1simvastatin44 49 59 28 11 2414.1IL8, SCARB1
2lipoteichoic acid448.8IL8, SCARB1

GO Terms for genes affiliated with Neutrophil-Specific Granule Deficiency

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet