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

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:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases Infectious diseases
Anatomical: Blood diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Orphanet ⁵⁸ 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 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.

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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
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:

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Symptoms & Phenotypes for Autosomal Recessive Severe Congenital Neutropenia

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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

Genetic tests related to Autosomal Recessive Severe Congenital Neutropenia:

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

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Anatomical Context for Autosomal Recessive Severe Congenital Neutropenia

Organs/tissues related to Autosomal Recessive Severe Congenital Neutropenia:

MalaCards : 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. ⁶²	Boztug K...Klein C	21108402	2010
2	A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. ⁶²	Faiyaz-Ul-Haque M...Zaidi SH	20182745	2010
3	Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? ⁶²	Schaffer AA...Klein C	17989524	2007
4	Severe congenital neutropenia: new genes explain an old disease. ⁶²	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. ⁶²	Melin M...Dahl N	17188649	2007
6	HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). ⁶²	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	400	Pathogenic ⁵
2	HAX1	HCLS1 Associated Protein X-1	Protein Coding	18.16	GeneCards inferred via : Publications Summaries (show sections)
3	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	8.68	GeneCards inferred via : Summaries (show sections)

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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

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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

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Sources for Autosomal Recessive Severe Congenital Neutropenia

¹ BitterDB

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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³⁰ HPO

³¹ ICD10

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³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁷ NCBI Bookshelf

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⁵³ Novoseek

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶⁵ R&D Systems

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATS450 MIFTS: 17	Autosomal Recessive Severe Congenital Neutropenia Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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