MCID: ATS450
MIFTS: 19

Autosomal Recessive Severe Congenital Neutropenia

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

Aliases & Classifications for Autosomal Recessive Severe Congenital Neutropenia

MalaCards integrated aliases for Autosomal Recessive Severe Congenital Neutropenia:

Name: Autosomal Recessive Severe Congenital Neutropenia 59 6

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA439849

Summaries for Autosomal Recessive Severe Congenital Neutropenia

MalaCards based summary : Autosomal Recessive Severe Congenital Neutropenia is related to severe congenital neutropenia and neutropenia. An important gene associated with Autosomal Recessive Severe Congenital Neutropenia is SMARCD2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 2). Affiliated tissues include neutrophil, and related phenotypes are hematopoietic system and immune system

Related Diseases for Autosomal Recessive Severe Congenital Neutropenia

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



Diseases related to Autosomal Recessive Severe Congenital Neutropenia

Symptoms & Phenotypes for Autosomal Recessive Severe Congenital Neutropenia

MGI Mouse Phenotypes related to Autosomal Recessive Severe Congenital Neutropenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.55 CSF3R ELANE G6PC3 HAX1 JAGN1
2 immune system MP:0005387 9.35 CSF3R ELANE G6PC3 HAX1 JAGN1
3 mortality/aging MP:0010768 9.02 CSF3R ELANE G6PC3 HAX1 SMARCD2

Drugs & Therapeutics for Autosomal Recessive Severe Congenital Neutropenia

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

Genetic Tests for Autosomal Recessive Severe Congenital Neutropenia

Anatomical Context for Autosomal Recessive Severe Congenital Neutropenia

MalaCards organs/tissues related to Autosomal Recessive Severe Congenital Neutropenia:

41
Neutrophil

Publications for Autosomal Recessive Severe Congenital Neutropenia

Articles related to Autosomal Recessive Severe Congenital Neutropenia:

# Title Authors PMID Year
1
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI. 38
21108402 2010
2
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. 38
20182745 2010
3
Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? 38
17989524 2007
4
Severe congenital neutropenia: new genes explain an old disease. 38
17917547 2007
5
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. 38
17188649 2007
6
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 38
17187068 2007

Variations for Autosomal Recessive Severe Congenital Neutropenia

ClinVar genetic disease variations for Autosomal Recessive Severe Congenital Neutropenia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMARCD2 NM_001098426.2(SMARCD2): c.1181+1G> A single nucleotide variant Pathogenic rs1057518731 17:61911268-61911268 17:63833908-63833908
2 SMARCD2 NM_001098426.2(SMARCD2): c.414_438dup (p.Gln147delinsGluAspGlyArgTer) duplication Pathogenic rs1555580263 17:61914561-61914585 17:63837201-63837225
3 SMARCD2 NM_001098426.2(SMARCD2): c.401+2T> C single nucleotide variant Pathogenic rs1057518733 17:61914799-61914799 17:63837439-63837439

Expression for Autosomal Recessive Severe Congenital Neutropenia

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

Pathways for Autosomal Recessive Severe Congenital Neutropenia

GO Terms for Autosomal Recessive Severe Congenital Neutropenia

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

# Name GO ID Score Top Affiliating Genes
1 defense response to fungus GO:0050832 8.62 JAGN1 ELANE

Molecular functions related to Autosomal Recessive Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 8.62 ELANE CSF3R

Sources for Autosomal Recessive Severe Congenital Neutropenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....