MCID: NTR011
MIFTS: 16

Neutrophil-Specific Granule Deficiency malady

Category: Rare diseases

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

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Aliases & Descriptions for Neutrophil-Specific Granule Deficiency:

Name: Neutrophil-Specific Granule Deficiency 48
Specific Granule Deficiency 48 68
Recurrent Infection Due to Specific Granule Deficiency 48
 
Neutrophil Secondary Granule Deficiency 68
Neutrophil Lactoferrin Deficiency 48
Lactoferrin-Deficient Neutrophils 48

Classifications:



Summaries for Neutrophil-Specific Granule Deficiency

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Wikipedia:71 Neutrophil-specific granule deficiency (SGD, previously known as lactoferrin deficiency) is a rare... more...

MalaCards based summary: Neutrophil-Specific Granule Deficiency, also known as specific granule deficiency, is related to specific granule deficiency and autism 18. An important gene associated with Neutrophil-Specific Granule Deficiency is CEBPE (CCAAT/Enhancer Binding Protein Epsilon). Affiliated tissues include neutrophil, monocytes and myeloid.

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 deficiency11.6
2autism 189.5CEBPE, SCARB1
3lagophthalmia cleft lip palate9.3CEBPE, SCARB1

Symptoms & Phenotypes for Neutrophil-Specific Granule Deficiency

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Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

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Interventional clinical trials:

Search ClinicalTrials, 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:

36
Neutrophil, Monocytes, Myeloid, Testes

Publications for Neutrophil-Specific Granule Deficiency

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Articles related to Neutrophil-Specific Granule Deficiency:

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CEBPECEBPE, 5-BP DEL, NT224deletionPathogenicChr na, -1: -1
2CEBPECEBPE, 1-BP INS, 1113AinsertionPathogenicChr na, -1: -1

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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GO Terms for genes affiliated with Neutrophil-Specific Granule Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428039.1CEBPE, SCARB1

Sources for Neutrophil-Specific Granule Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet