MCID: ATS450
MIFTS: 17

Autosomal Recessive Severe Congenital Neutropenia

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Aliases & Classifications for Autosomal Recessive Severe Congenital Neutropenia

MalaCards integrated aliases for Autosomal Recessive Severe Congenital Neutropenia:

Name: Autosomal Recessive Severe Congenital Neutropenia 58 28 5

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 severe congenital neutropenia 4 and severe congenital neutropenia 7. 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.

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 Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7 Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2 Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3 Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8 Severe Congenital Neutropenia 4
Elane-Related Neutropenia 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:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 severe congenital neutropenia 4 32.3 HAX1 G6PC3
2 severe congenital neutropenia 7 32.2 HAX1 G6PC3
3 severe congenital neutropenia 29.7 HAX1 G6PC3
4 neutropenia 29.7 HAX1 G6PC3
5 severe congenital neutropenia 3 29.6 HAX1 G6PC3
6 severe congenital neutropenia 6 11.8
7 autosomal recessive severe congenital neutropenia due to cxcr2 deficiency 11.6
8 immune deficiency disease 10.1
9 barth syndrome 10.1
10 neutropenia, severe congenital, 3, autosomal recessive 10.1
11 elane-related neutropenia 10.1
12 g6pc3 deficiency 10.1
13 severe congenital neutropenia 5 9.7 HAX1 G6PC3
14 poikiloderma with neutropenia 9.7 HAX1 G6PC3
15 whim syndrome 1 9.6 HAX1 G6PC3
16 autosomal dominant severe congenital neutropenia 9.6 HAX1 G6PC3
17 cohen syndrome 9.6 HAX1 G6PC3
18 cyclic neutropenia 9.5 HAX1 G6PC3
19 shwachman-diamond syndrome 1 9.4 HAX1 G6PC3

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

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

Genetic tests related to Autosomal Recessive Severe Congenital Neutropenia:

# Genetic test Affiliating Genes
1 Autosomal Recessive Severe Congenital Neutropenia 28

Anatomical Context for Autosomal Recessive Severe Congenital Neutropenia

Organs/tissues related to Autosomal Recessive Severe Congenital Neutropenia:

MalaCards : 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. 62
21108402 2010
2
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. 62
20182745 2010
3
Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? 62
17989524 2007
4
Severe congenital neutropenia: new genes explain an old disease. 62
17917547 2007
5
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. 62
17188649 2007
6
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 62
17187068 2007

Variations for Autosomal Recessive Severe Congenital Neutropenia

ClinVar genetic disease variations for Autosomal Recessive Severe Congenital Neutropenia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCD2 NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer) DUP Pathogenic
369730 rs1555580263 GRCh37: 17:61914560-61914561
GRCh38: 17:63837200-63837201
2 SMARCD2 NM_001098426.2(SMARCD2):c.401+2T>C SNV Pathogenic
369731 rs1057518733 GRCh37: 17:61914799-61914799
GRCh38: 17:63837439-63837439
3 SMARCD2 NM_001098426.2(SMARCD2):c.1181+1G>A SNV Pathogenic
369729 rs1057518731 GRCh37: 17:61911268-61911268
GRCh38: 17:63833908-63833908

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

Sources for Autosomal Recessive Severe Congenital Neutropenia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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