MCID: NTR011
MIFTS: 20

Neutrophil-Specific Granule Deficiency malady

Rare diseases, Blood diseases categories

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Neutrophil-Specific Granule Deficiency:

Name: Neutrophil-Specific Granule Deficiency 45 51
Recurrent Infection Due to Specific Granule Deficiency 45 51
Specific Granule Deficiency 45 65
 
Neutrophil Secondary Granule Deficiency 65
Lactoferrin-Deficient Neutrophils 45
Neutrophil Lactoferrin Deficiency 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
recurrent infection due to specific granule deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 169142
ICD10 via Orphanet28 D71

Summaries for Neutrophil-Specific Granule Deficiency

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Wikipedia:68 Neutrophil-specific granule deficiency (SGD, previously known as lactoferrin deficiency) is a rare... more...

MalaCards based summary: Neutrophil-Specific Granule Deficiency, also known as recurrent infection due to 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 (C/EBP), 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 deficiency10.9
2autism 189.8CEBPE, SCARB1
3nevus mucinosis9.7CEBPE, 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:

33
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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Clinvar genetic disease variations for Neutrophil-Specific Granule Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CEBPECEBPE, 5-BP DEL, NT224deletionPathogenic
2CEBPECEBPE, 1-BP INS, 1113AinsertionPathogenic

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet