MCID: SVR012
MIFTS: 20

Severe Congenital Neutropenia Autosomal Dominant malady

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

Aliases & Classifications for Severe Congenital Neutropenia Autosomal Dominant

Aliases & Descriptions for Severe Congenital Neutropenia Autosomal Dominant:

Name: Severe Congenital Neutropenia Autosomal Dominant 50
Autosomal Dominant Severe Congenital Neutropenia 50 56 29

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant severe congenital neutropenia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

Orphanet 56 ORPHA486
ICD10 via Orphanet 34 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, severe congenital 2, autosomal dominant and fucosyltransferase 6 deficiency. An important gene associated with Severe Congenital Neutropenia Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Related phenotypes are hematopoietic system and immune system

Related Diseases for Severe Congenital Neutropenia Autosomal Dominant

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia Autosomal Dominant:



Diseases related to Severe Congenital Neutropenia Autosomal Dominant

Symptoms & Phenotypes for Severe Congenital Neutropenia Autosomal Dominant

MGI Mouse Phenotypes related to Severe Congenital Neutropenia Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.13 ELANE GFI1 TCIRG1
2 immune system MP:0005387 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:

id Genetic test Affiliating Genes
1 Severe Congenital Neutropenia Autosomal Dominant 29

Anatomical Context for Severe Congenital Neutropenia Autosomal Dominant

Publications for Severe Congenital Neutropenia Autosomal Dominant

Variations for Severe Congenital Neutropenia Autosomal Dominant

ClinVar genetic disease variations for Severe Congenital Neutropenia Autosomal Dominant:

6
id 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

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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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