Elane-Related Neutropenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ELN001 MIFTS: 14	Elane-Related Neutropenia Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Expand all tables

Sources

Aliases & Classifications for Elane-Related Neutropenia

MalaCards integrated aliases for Elane-Related Neutropenia:

Name: Elane-Related Neutropenia ²⁴

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Neuronal diseases Bone diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

Sources

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 bone, neutrophil and myeloid.

GeneReviews: NBK1533

Sources

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	Severe Congenital Neutropenia
Elane-Related Neutropenia	Severe Congenital Neutropenia Autosomal Dominant
Acquired Neutropenia	Autosomal Recessive Severe Congenital Neutropenia

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

#	Related Disease	Score
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	severe congenital neutropenia autosomal dominant	10.2

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

Sources

Symptoms & Phenotypes for Elane-Related Neutropenia

Sources

Drugs & Therapeutics for Elane-Related Neutropenia

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

Sources

Genetic Tests for Elane-Related Neutropenia

Sources

Anatomical Context for Elane-Related Neutropenia

MalaCards organs/tissues related to Elane-Related Neutropenia:

⁴⁰

Bone, Neutrophil, Myeloid, Bone Marrow

Sources

Publications for Elane-Related Neutropenia

Articles related to Elane-Related Neutropenia:

(show all 42)

#	Title	Authors	PMID	Year
1	Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia. ²⁴	Dale DC...Spiekerman C	29211670	2017
2	Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. ²⁴	Donadieu J...Bellanne-Chantelot C	28875503	2017
3	How I manage children with neutropenia. ²⁴	Dale DC	28419427	2017
4	Severe congenital neutropenias. ²⁴	Skokowa J...Welte K	28593997	2017
5	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
6	Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. ²⁴	Fioredda F...Severe Aplastic Anemia the Inborn Error, and the Pediatric Disease Working Parties of the European Society for Blood and Bone Marrow Transplantation (EBMT) and Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE)	26185129	2015
7	Use of granulocyte colony-stimulating factor during pregnancy in women with chronic neutropenia. ²⁴	Boxer LA...Dale DC	25560125	2015
8	The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. ²⁴	Makaryan V...Dale DC	25427142	2015
9	Game of clones: the genomic evolution of severe congenital neutropenia. ²⁴	Touw IP	26637693	2015
10	Neutrophil counts in persons of African origin. ²⁴	Thobakgale CF...Ndung'u T	24257098	2014
11	Hematopoietic stem cell transplantation for severe congenital neutropenia. ²⁴	Connelly JA...Levine JE	22080845	2012
12	Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. ²⁴	Klein C	21219176	2011
13	Indications for hematopoietic cell transplantation for children with severe congenital neutropenia. ²⁴	Choi SW...Levine J	20819181	2010
14	Hematopoietic stem cell transplantation in patients with severe congenital neutropenia: an analysis of 18 Japanese cases. ²⁴	Oshima K...Hematopoietic Stem Cell Transplantation Committee of the Japanese Society of Pediatric Hematology	20331518	2010
15	Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. ²⁴	Newburger PE...Boxer LA	20582973	2010
16	Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. ²⁴	Rosenberg PS...Dale DC	20456363	2010
17	Digenic mutations in severe congenital neutropenia. ²⁴	Germeshausen M...Welte K	20220065	2010
18	Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. ²⁴	Xia J...Link DC	19775295	2009
19	Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. ²⁴	Rosenberg PS...Dale DC	18028488	2008
20	HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). ²⁴	Klein C...Welte K	17187068	2007
21	Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. ²⁴	Kollner I...Beger C	16551967	2006
22	The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. ²⁴	Rosenberg PS...Severe Chronic Neutropenia International Registry	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	Carlsson G...Hentera JI	16670064	2006
24	Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. ²⁴	Boxer LA...Dale DC	16737875	2006
25	Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. ²⁴	Massullo P...Avalos BR	15657182	2005
26	Biosynthetic profiles of neutrophil serine proteases in a human bone marrow-derived cellular myeloid differentiation model. ²⁴	Garwicz D...Lindmark A	15642667	2005
27	Clostridium septicum myonecrosis in congenital neutropenia. ²⁴	Barnes C...Carcao MD	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	Bellanne-Chantelot C...Donadieu J	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	Carlsson G...Fadeel B	14764541	2004
30	The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure. ²⁴	Papadaki HA...Eliopoulos GD	12963840	2003
31	Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. ²⁴	Person RE...Horwitz M	12778173	2003
32	Neutrophil elastase mutations in congenital neutropenia. ²⁴	Ancliff PJ...Linch DC	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	Ancliff PJ...Linch DC	12588357	2003
34	Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. ²⁴	Dale DC...Welte K	12555210	2003
35	Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. ²⁴	Ancliff PJ...Linch DC	12091371	2002
36	Kostmann syndrome and severe congenital neutropenia. ²⁴	Zeidler C...Welte K	11957189	2002
37	Management of Kostmann syndrome in the G-CSF era. ²⁴	Zeidler C...Welte K	10886193	2000
38	Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. ²⁴	Horwitz M...Dale DC	10581030	1999
39	Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models. ²⁴	Haurie C...Mackey MC	9763544	1998
40	Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. ²⁴	Palmer SE...Dale DC	8989458	1996
41	Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue. ⁶¹	Park CH...Kim HJ	31658467	2018
42	ELANE-Related Neutropenia ⁶¹	Dale DC...Makaryan V	20301705	2002

Sources

Genes for Elane-Related Neutropenia

Genes related to Elane-Related Neutropenia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELANE	Elastase, Neutrophil Expressed	Protein Coding	7.22	GeneCards inferred via : Publications (show sections)

Sources

Variations for Elane-Related Neutropenia

Sources

Expression for Elane-Related Neutropenia

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

Sources

Pathways for Elane-Related Neutropenia

Sources

GO Terms for Elane-Related Neutropenia

Sources

Sources for Elane-Related Neutropenia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia