MCID: NTR011
MIFTS: 19

Neutrophil-Specific Granule Deficiency malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

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Sources:
45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards 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
Neutrophil Lactoferrin Deficiency 45
Lactoferrin-Deficient Neutrophils 45

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 169142
ICD10 via Orphanet28 D71
UMLS65 C0398745, C0398593

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 myocardial infarction. An important gene associated with Neutrophil-Specific Granule Deficiency is CEBPE (CCAAT/Enhancer Binding Protein Epsilon). Affiliated tissues include neutrophil and monocytes.

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:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1specific granule deficiency12.7
2myocardial infarction10.1
3pancreatic cancer10.1
4cutaneous leishmaniasis10.1
5gastric cancer10.1
6myelofibrosis10.1
7fetal alcohol syndrome10.1
8glomerulosclerosis10.1
9cheilitis10.1
10pancreatitis10.1
11leiomyomatosis10.1
12leishmaniasis10.1
13drug dependence10.1
14type 2a von willebrand disease10.1
15rem sleep behavior disorder10.0
16autism 189.7CEBPE, SCARB1
17nevus mucinosis9.5CEBPE, SCARB1

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



Diseases related to neutrophil-specific granule deficiency

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

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
Recent studies of the human chromosome 9p21 locus, which is associated with atherosclerosis in human populations. (22258902)
2012
2
Olmsted syndrome: report of two cases. (22121289)
2011
3
Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. (20945602)
2010
4
Comparison of embryological and clinical outcome in GnRH antagonist vs. GnRH agonist protocols for in vitro fertilization in PCOS non-obese patients. A prospective randomized study. (18802744)
2008
5
Evaluation of diabetes management in a rural community hospital. (18238741)
2008
6
TGF-beta receptor kinase inhibitor LY2109761 reverses the anti-apoptotic effects of TGF-beta1 in myelo-monocytic leukaemic cells co-cultured with stromal cells. (18492113)
2008
7
BCL3 is induced by IL-6 via Stat3 binding to intronic enhancer HS4 and represses its own transcription. (16732314)
2006
8
Potent neutralization of Hendra and Nipah viruses by human monoclonal antibodies. (16378991)
2006
9
Ciprofibrate increases paraoxonase activity in patients with metabolic syndrome. (16722831)
2006
10
Serum inhibin, activin and follistatin in postmenopausal women with epithelial ovarian carcinoma. (11002947)
2000
11
XbaI polymorphism of the apolipoprotein B gene in patients with hyperlipidemia and echo-Doppler evidence of arterial lesions. (8512457)
1993
12
Pleural fibrosis in carcinoid syndrome. (8327654)
1993
13
"Universal" T helper cell determinants enhance immunogenicity of a Plasmodium falciparum merozoite surface antigen peptide. (1371529)
1992
14
Childhood acute recurrent parotitis. (3610684)
1987

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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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