Autosomal Recessive Severe Congenital Neutropenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ⁵⁹ ⁶

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases
Anatomical: Blood diseases Bone diseases Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

Orphanet ⁵⁹ ORPHA439849

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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

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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
Severe Congenital 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:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia	27.1	JAGN1 HAX1 G6PC3 ELANE CSF3R
2	neutropenia	26.9	JAGN1 HAX1 G6PC3 ELANE CSF3R
3	autosomal recessive severe congenital neutropenia due to cxcr2 deficiency	12.5
4	neutropenia, severe congenital, 3, autosomal recessive	12.0
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	cyclic neutropenia	9.8	G6PC3 ELANE

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

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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

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Drugs & Therapeutics for Autosomal Recessive Severe Congenital Neutropenia

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

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Genetic Tests for Autosomal Recessive Severe Congenital Neutropenia

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Anatomical Context for Autosomal Recessive Severe Congenital Neutropenia

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

⁴¹

Neutrophil

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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	Boztug K...Klein C	21108402	2010
2	A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. ³⁸	Faiyaz-Ul-Haque M...Zaidi SH	20182745	2010
3	Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? ³⁸	Schaffer AA...Klein C	17989524	2007
4	Severe congenital neutropenia: new genes explain an old disease. ³⁸	Bohn G...Klein C	17917547	2007
5	Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. ³⁸	Melin M...Dahl N	17188649	2007
6	HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). ³⁸	Klein C...Welte K	17187068	2007

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Genes for Autosomal Recessive Severe Congenital Neutropenia

Genes related to Autosomal Recessive Severe Congenital Neutropenia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SMARCD2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 2	Protein Coding	418.25	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	HAX1	HCLS1 Associated Protein X-1	Protein Coding	27.47	GeneCards inferred via : Publications Summaries (show sections)
3	JAGN1	Jagunal Homolog 1	Protein Coding	18.51	GeneCards inferred via : Variants (show sections)
4	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	18.45	GeneCards inferred via : Summaries (show sections)
5	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	17.35	GeneCards inferred via : Publications (show sections)
6	ELANE	Elastase, Neutrophil Expressed	Protein Coding	17.35	GeneCards inferred via : Publications (show sections)

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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

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Expression for Autosomal Recessive Severe Congenital Neutropenia

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

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Pathways for Autosomal Recessive Severe Congenital Neutropenia

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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

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