MCID: ATS450
MIFTS: 18

Autosomal Recessive Severe Congenital Neutropenia

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal 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 58 6

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Orphanet 58 ORPHA439849

Summaries for Autosomal Recessive Severe Congenital Neutropenia

MalaCards based summary : Autosomal Recessive Severe Congenital Neutropenia is related to neutropenia, severe congenital, 3, autosomal recessive and severe congenital 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 bone, and related phenotype is mortality/aging.

Related Diseases for Autosomal Recessive Severe Congenital 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 Autosomal Recessive Severe Congenital Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 14, show less)
# Related Disease Score Top Affiliating Genes
1 neutropenia, severe congenital, 3, autosomal recessive 31.5 HAX1 ELANE CSF3R
2 severe congenital neutropenia 28.3 HAX1 G6PC3 ELANE CSF3R
3 neutropenia 28.2 HAX1 G6PC3 ELANE CSF3R
4 autosomal recessive severe congenital neutropenia due to cxcr2 deficiency 12.5
5 neutropenia, severe congenital, 6, autosomal recessive 11.7
6 neutropenia, severe congenital, 4, autosomal recessive 11.6
7 neutropenia, severe congenital, 5, autosomal recessive 11.6
8 neutropenia, severe congenital, 7, autosomal recessive 11.5
9 barth syndrome 10.0
10 elane-related neutropenia 10.0
11 g6pc3 deficiency 10.0
12 whim syndrome 9.5 HAX1 G6PC3
13 cyclic neutropenia 8.8 HAX1 G6PC3 ELANE CSF3R
14 shwachman-diamond syndrome 1 8.7 HAX1 G6PC3 ELANE CSF3R

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:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 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:

40
Neutrophil, Bone

Publications for Autosomal Recessive Severe Congenital Neutropenia

Articles related to Autosomal Recessive Severe Congenital Neutropenia:

(showing 6, show less)
# Title Authors PMID Year
1
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI. 61
21108402 2010
2
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. 61
20182745 2010
3
Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? 61
17989524 2007
4
Severe congenital neutropenia: new genes explain an old disease. 61
17917547 2007
5
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. 61
17188649 2007
6
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 61
17187068 2007

Variations for Autosomal Recessive Severe Congenital Neutropenia

ClinVar genetic disease variations for Autosomal Recessive Severe Congenital Neutropenia:

6 (showing 3, show less) ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCD2 NM_001098426.2(SMARCD2):c.1181+1G>ASNV Pathogenic 369729 rs1057518731 17:61911268-61911268 17:63833908-63833908
2 SMARCD2 NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer)duplication Pathogenic 369730 rs1555580263 17:61914560-61914561 17:63837200-63837201
3 SMARCD2 NM_001098426.2(SMARCD2):c.401+2T>CSNV Pathogenic 369731 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

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

(showing 1, show less)
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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