MCID: ELN001
MIFTS: 13

Elane-Related Neutropenia

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Elane-Related Neutropenia

MalaCards integrated aliases for Elane-Related Neutropenia:

Name: Elane-Related Neutropenia 24

Classifications:



Summaries for Elane-Related Neutropenia

MalaCards based summary: Elane-Related Neutropenia is related to cyclic neutropenia and myelodysplastic syndrome. Affiliated tissues include bone marrow, neutrophil and myeloid.

GeneReviews: NBK1533

Related Diseases for Elane-Related Neutropenia

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7 Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2 Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3 Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8 Severe Congenital Neutropenia 4
Elane-Related Neutropenia Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cyclic neutropenia 10.2
2 myelodysplastic syndrome 10.2
3 neutropenia 10.2
4 cellulitis 10.2
5 neutropenia, severe congenital, 1, autosomal dominant 10.1
6 leukemia, acute myeloid 10.1
7 bacteremia 2 10.1
8 severe congenital neutropenia 10.1
9 pharyngitis 10.1
10 gingivitis 10.1
11 lymphatic system disease 10.1
12 acute myeloid leukemia with recurrent genetic anomaly 10.1

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

Organs/tissues related to Elane-Related Neutropenia:

MalaCards : Bone Marrow, Neutrophil, Myeloid, Bone

Publications for Elane-Related Neutropenia

Articles related to Elane-Related Neutropenia:

(show all 43)
# Title Authors PMID Year
1
Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia. 24
29211670 2017
2
Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. 24
28875503 2017
3
How I manage children with neutropenia. 24
28419427 2017
4
Severe congenital neutropenias. 24
28593997 2017
5
Timing, rates and spectra of human germline mutation. 24
26656846 2016
6
Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. 24
26185129 2015
7
Game of clones: the genomic evolution of severe congenital neutropenia. 24
26637693 2015
8
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. 24
25427142 2015
9
Use of granulocyte colony-stimulating factor during pregnancy in women with chronic neutropenia. 24
25560125 2015
10
Neutrophil counts in persons of African origin. 24
24257098 2014
11
Hematopoietic stem cell transplantation for severe congenital neutropenia. 24
22080845 2012
12
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. 24
21219176 2011
13
Indications for hematopoietic cell transplantation for children with severe congenital neutropenia. 24
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. 24
20582973 2010
15
Hematopoietic stem cell transplantation in patients with severe congenital neutropenia: an analysis of 18 Japanese cases. 24
20331518 2010
16
Digenic mutations in severe congenital neutropenia. 24
20220065 2010
17
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. 24
20456363 2010
18
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. 24
19775295 2009
19
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. 24
18028488 2008
20
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 24
17187068 2007
21
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. 24
16551967 2006
22
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. 24
16497969 2006
23
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. 24
16670064 2006
24
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. 24
16737875 2006
25
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. 24
15657182 2005
26
Biosynthetic profiles of neutrophil serine proteases in a human bone marrow-derived cellular myeloid differentiation model. 24
15642667 2005
27
Clostridium septicum myonecrosis in congenital neutropenia. 24
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. 24
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. 24
14764541 2004
30
The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure. 24
12963840 2003
31
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 24
12778173 2003
32
Neutrophil elastase mutations in congenital neutropenia. 24
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. 24
12588357 2003
34
Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. 24
12555210 2003
35
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. 24
12091371 2002
36
Kostmann syndrome and severe congenital neutropenia. 24
11957189 2002
37
Management of Kostmann syndrome in the G-CSF era. 24
10886193 2000
38
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 24
10581030 1999
39
Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models. 24
9763544 1998
40
Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. 24
8989458 1996
41
Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study. 62
34340247 2021
42
Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue. 62
31658467 2020
43
ELANE-Related Neutropenia 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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