MCID: SVR012
MIFTS: 17

Severe Congenital Neutropenia Autosomal Dominant

Categories: Rare diseases, Blood diseases, Genetic diseases, Bone diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Severe Congenital Neutropenia Autosomal Dominant

MalaCards integrated aliases for Severe Congenital Neutropenia Autosomal Dominant:

Name: Severe Congenital Neutropenia Autosomal Dominant 49 28
Autosomal Dominant Severe Congenital Neutropenia 49 55

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant severe congenital neutropenia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

Orphanet 55 ORPHA486
ICD10 via Orphanet 33 D70

Summaries for Severe Congenital Neutropenia Autosomal Dominant

MalaCards based summary : Severe Congenital Neutropenia Autosomal Dominant, also known as autosomal dominant severe congenital neutropenia, is related to neutropenia and severe congenital neutropenia. An important gene associated with Severe Congenital Neutropenia Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Related phenotype is hematopoietic system.

Related Diseases for Severe Congenital Neutropenia Autosomal Dominant

Symptoms & Phenotypes for Severe Congenital Neutropenia Autosomal Dominant

MGI Mouse Phenotypes related to Severe Congenital Neutropenia Autosomal Dominant:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 8.8 ELANE GFI1 TCIRG1

Drugs & Therapeutics for Severe Congenital Neutropenia Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia Autosomal Dominant

Genetic Tests for Severe Congenital Neutropenia Autosomal Dominant

Genetic tests related to Severe Congenital Neutropenia Autosomal Dominant:

# Genetic test Affiliating Genes
1 Severe Congenital Neutropenia Autosomal Dominant 28 ELANE

Anatomical Context for Severe Congenital Neutropenia Autosomal Dominant

Publications for Severe Congenital Neutropenia Autosomal Dominant

Articles related to Severe Congenital Neutropenia Autosomal Dominant:

# Title Authors Year
1
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. ( 20049848 )
2010

Variations for Severe Congenital Neutropenia Autosomal Dominant

ClinVar genetic disease variations for Severe Congenital Neutropenia Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELANE NM_001972.3(ELANE): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs137854448 GRCh37 Chromosome 19, 855613: 855613
2 ELANE NM_001972.3(ELANE): c.214G> A (p.Val72Met) single nucleotide variant Pathogenic rs387906553 GRCh37 Chromosome 19, 853022: 853022
3 ELANE NM_001972.3(ELANE): c.377C> T (p.Ser126Leu) single nucleotide variant Pathogenic rs137854450 GRCh37 Chromosome 19, 855574: 855574
4 ELANE NM_001972.3(ELANE): c.211T> C (p.Cys71Arg) single nucleotide variant Pathogenic rs28931611 GRCh37 Chromosome 19, 853019: 853019
5 ELANE NM_001972.3(ELANE): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs137854451 GRCh37 Chromosome 19, 856000: 856000
6 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Pathogenic rs587779413 GRCh37 Chromosome 11, 67817691: 67817691
7 ELANE NM_001972.3(ELANE): c.561C> A (p.Cys187Ter) single nucleotide variant Pathogenic rs797045009 GRCh38 Chromosome 19, 855758: 855758
8 ELANE NM_001972.3(ELANE): c.597+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs879253882 GRCh38 Chromosome 19, 855799: 855799

Expression for Severe Congenital Neutropenia Autosomal Dominant

Search GEO for disease gene expression data for Severe Congenital Neutropenia Autosomal Dominant.

Pathways for Severe Congenital Neutropenia Autosomal Dominant

GO Terms for Severe Congenital Neutropenia Autosomal Dominant

Cellular components related to Severe Congenital Neutropenia Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor complex GO:0017053 8.62 ELANE GFI1

Biological processes related to Severe Congenital Neutropenia Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.62 ELANE TCIRG1

Sources for Severe Congenital Neutropenia Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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