MCID: NTR011
MIFTS: 18

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 46
Specific Granule Deficiency 46 66
Recurrent Infection Due to Specific Granule Deficiency 46
 
Neutrophil Secondary Granule Deficiency 66
Neutrophil Lactoferrin Deficiency 46
Lactoferrin-Deficient Neutrophils 46

Classifications:



Summaries for Neutrophil-Specific Granule Deficiency

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Wikipedia:69 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 deficiency11.7
2autism 189.5CEBPE, SCARB1
3lagophthalmia cleft lip palate9.2CEBPE, SCARB1

Symptoms 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:

34
Neutrophil, Monocytes, Myeloid, Testes

Animal Models for Neutrophil-Specific Granule Deficiency or affiliated genes

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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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet