MCID: ELN001
MIFTS: 11

Elane-Related Neutropenia

Aliases & Classifications for Elane-Related Neutropenia

MalaCards integrated aliases for Elane-Related Neutropenia:

Name: Elane-Related Neutropenia 24

Summaries for Elane-Related Neutropenia

MalaCards based summary : Elane-Related Neutropenia is related to cyclic neutropenia and neutropenia, severe congenital, 1, autosomal dominant. An important gene associated with Elane-Related Neutropenia is ELANE (Elastase, Neutrophil Expressed). Affiliated tissues include neutrophil, bone and myeloid.

GeneReviews: NBK1533

Related Diseases for Elane-Related Neutropenia

Diseases related to Elane-Related Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cyclic neutropenia 10.2
2 neutropenia, severe congenital, 1, autosomal dominant 10.2
3 severe congenital neutropenia 10.2
4 neutropenia 10.2
5 pharyngitis 10.2
6 gingivitis 10.2
7 cellulitis 10.2
8 peritonitis 10.2
9 severe congenital neutropenia autosomal dominant 10.2
10 hematopoietic stem cell transplantation 10.2

Graphical network of the top 20 diseases related to Elane-Related Neutropenia:



Diseases related to Elane-Related Neutropenia

Symptoms & Phenotypes for Elane-Related Neutropenia

Drugs & Therapeutics for Elane-Related Neutropenia

Search Clinical Trials , NIH Clinical Center for Elane-Related Neutropenia

Genetic Tests for Elane-Related Neutropenia

Anatomical Context for Elane-Related Neutropenia

MalaCards organs/tissues related to Elane-Related Neutropenia:

41
Neutrophil, Bone, Myeloid, Bone Marrow

Publications for Elane-Related Neutropenia

Articles related to Elane-Related Neutropenia:

(show all 41)
# Title Authors PMID Year
1
Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia. 4
29211670 2017
2
Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. 4
28875503 2017
3
How I manage children with neutropenia. 4
28419427 2017
4
Severe congenital neutropenias. 4
28593997 2017
5
Timing, rates and spectra of human germline mutation. 4
26656846 2016
6
Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. 4
26185129 2015
7
Use of granulocyte colony-stimulating factor during pregnancy in women with chronic neutropenia. 4
25560125 2015
8
Game of clones: the genomic evolution of severe congenital neutropenia. 4
26637693 2015
9
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. 4
25427142 2015
10
Neutrophil counts in persons of African origin. 4
24257098 2014
11
Hematopoietic stem cell transplantation for severe congenital neutropenia. 4
22080845 2012
12
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. 4
21219176 2011
13
Indications for hematopoietic cell transplantation for children with severe congenital neutropenia. 4
20819181 2010
14
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. 4
20582973 2010
15
Hematopoietic stem cell transplantation in patients with severe congenital neutropenia: an analysis of 18 Japanese cases. 4
20331518 2010
16
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. 4
20456363 2010
17
Digenic mutations in severe congenital neutropenia. 4
20220065 2010
18
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. 4
19775295 2009
19
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. 4
18028488 2008
20
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 4
17187068 2007
21
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. 4
16551967 2006
22
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. 4
16497969 2006
23
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. 4
16737875 2006
24
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. 4
16670064 2006
25
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. 4
15657182 2005
26
Biosynthetic profiles of neutrophil serine proteases in a human bone marrow-derived cellular myeloid differentiation model. 4
15642667 2005
27
Clostridium septicum myonecrosis in congenital neutropenia. 4
15574607 2004
28
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. 4
14962902 2004
29
Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells. 4
14764541 2004
30
The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure. 4
12963840 2003
31
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 4
12778173 2003
32
Neutrophil elastase mutations in congenital neutropenia. 4
12745650 2003
33
Long-term follow-up of granulocyte colony-stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy. 4
12588357 2003
34
Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. 4
12555210 2003
35
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. 4
12091371 2002
36
Kostmann syndrome and severe congenital neutropenia. 4
11957189 2002
37
Management of Kostmann syndrome in the G-CSF era. 4
10886193 2000
38
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 4
10581030 1999
39
Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models. 4
9763544 1998
40
Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. 4
8989458 1996
41
ELANE-Related Neutropenia 38
20301705 2002

Variations for Elane-Related Neutropenia

Expression for Elane-Related Neutropenia

Search GEO for disease gene expression data for Elane-Related Neutropenia.

Pathways for Elane-Related Neutropenia

GO Terms for Elane-Related Neutropenia

Sources for Elane-Related Neutropenia

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