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

GARD: ¹⁹ A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.

MalaCards based summary: Autosomal Dominant Severe Congenital Neutropenia, also known as neutropenia, congenital, severe, autosomal dominant, is related to severe congenital neutropenia 8 and severe congenital neutropenia 2. An important gene associated with Autosomal Dominant Severe Congenital Neutropenia is GFI1 (Growth Factor Independent 1 Transcriptional Repressor), and among its related pathways/superpathways is Interaction between L1 and Ankyrins. Affiliated tissues include neutrophil, myeloid and skin, and related phenotypes are neutropenia and recurrent bacterial infections

Orphanet: ⁵⁸ A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.

Disease Ontology: ¹¹ A severe congenital neutropenia that has material basis in heterozygous mutation of an autosomal gene.

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

(show all 41)

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 8	32.5	SRP54 SCN11A SBDS PDE3A DNAJC21
2	severe congenital neutropenia 2	32.2	SNORD80 MIMT1 GFI1
3	neutropenia, severe congenital, 1, autosomal dominant	30.7	TCIRG1 ELANE
4	cyclic neutropenia	30.4	SBDS JAGN1 HAX1 GFI1 G6PC3 ELANE
5	neutropenia	30.3	SRP54 SBDS JAGN1 HAX1 GFI1 G6PC3
6	severe congenital neutropenia	30.0	TCIRG1 SRP54 SBDS LAMTOR2 JAGN1 HAX1
7	neutropenia, severe congenital, 8, autosomal dominant	11.2
8	neutropenia, severe congenital, 9, autosomal dominant	11.2
9	severe congenital neutropenia 6	10.3	JAGN1 G6PC3
10	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.3
11	spondylometaphyseal dysplasia, corner fracture type	10.3	SRP54 DNAJC21
12	neutropenia, severe congenital, 3, autosomal recessive	10.3	HAX1 ELANE
13	autosomal recessive severe congenital neutropenia	10.3	HAX1 G6PC3
14	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	10.3	HAX1 CLPB
15	generalized epilepsy with febrile seizures plus, type 2	10.3	SCN1A SCN11A
16	whim syndrome 1	10.2	HAX1 G6PC3 ELANE
17	alopecia, neurologic defects, and endocrinopathy syndrome	10.2	SBDS DNAJC21
18	poikiloderma with neutropenia	10.2	JAGN1 HAX1 G6PC3
19	neutropenia, severe congenital, x-linked	10.2	SBDS HAX1 ELANE
20	developmental and epileptic encephalopathy 2	10.2	SCN1A CDKL5
21	severe congenital neutropenia 4	10.2	SBDS HAX1 G6PC3
22	developmental and epileptic encephalopathy 21	10.2	SCN1A CDKL5
23	trigeminal nerve disease	10.2	SCN1A SCN11A
24	epilepsy with generalized tonic-clonic seizures	10.2	SCN1A CDKL5
25	landau-kleffner syndrome	10.2	SCN1A CDKL5
26	developmental and epileptic encephalopathy 9	10.1	SCN1A CDKL5
27	generalized epilepsy with febrile seizures plus	10.1	SCN1A SCN11A CDKL5
28	infancy electroclinical syndrome	10.1	SCN1A CDKL5
29	cohen syndrome	10.1	LAMTOR2 JAGN1 HAX1 G6PC3
30	dravet syndrome	10.1	SCN1A SCN11A CDKL5
31	epilepsy, idiopathic generalized	10.1	SCN1A SCN11A CDKL5
32	developmental and epileptic encephalopathy 14	10.1	SCN1A CDKL5
33	severe congenital neutropenia 1	10.1
34	common variable immunodeficiency	10.1
35	benign neonatal seizures	10.1	SCN1A CDKL5
36	severe congenital neutropenia 5	10.1	LAMTOR2 JAGN1 HAX1 GFI1 G6PC3
37	severe congenital neutropenia 7	10.0	SRP54 JAGN1 HAX1 GFI1 G6PC3 DNAJC21
38	severe congenital neutropenia 3	10.0	SBDS JAGN1 HAX1 GFI1 G6PC3 ELANE
39	photosensitive epilepsy	10.0	SCN1A CDKL5
40	shwachman-diamond syndrome 1	9.9	SRP54 SBDS HAX1 GFI1 G6PC3 ELANE
41	sturge-weber syndrome	9.9	SCN1A CDKL5

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

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Symptoms & Phenotypes for Autosomal Dominant Severe Congenital Neutropenia

Human phenotypes related to Autosomal Dominant Severe Congenital Neutropenia:

⁵⁸ ³⁰ (show all 31)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	neutropenia ⁵⁸ ³⁰	Obligate (100%)	Obligate (100%)	HP:0001875
2	recurrent bacterial infections ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002718
3	recurrent viral infections ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004429
4	fever ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001945
5	abdominal pain ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002027
6	lymphopenia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001888
7	gingivitis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000230
8	periodontitis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000704
9	pneumonia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002090
10	diarrhea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002014
11	recurrent sinopulmonary infections ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005425
12	oral ulcer ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000155
13	recurrent aphthous stomatitis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011107
14	recurrent skin infections ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001581
15	rhinitis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012384
16	pharyngitis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0025439
17	recurrent infection of the gastrointestinal tract ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004798
18	recurrent ear infections ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0410018
19	monocytosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012311
20	osteopenia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000938
21	myelodysplasia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002863
22	cellulitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100658
23	hemangioma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001028
24	eosinophilia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001880
25	acute lymphoblastic leukemia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006721
26	premature loss of teeth ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006480
27	acute myeloid leukemia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0004808
28	antineutrophil antibody positivity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003453
29	pyoderma gangrenosum ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0025452
30	aplastic anemia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001915
31	leukemia ⁵⁸		Occasional (29-5%)

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Drugs & Therapeutics for Autosomal Dominant Severe Congenital Neutropenia

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

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Genetic Tests for Autosomal Dominant Severe Congenital Neutropenia

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Anatomical Context for Autosomal Dominant Severe Congenital Neutropenia

Organs/tissues related to Autosomal Dominant Severe Congenital Neutropenia:

MalaCards : Neutrophil, Myeloid, Skin

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Publications for Autosomal Dominant Severe Congenital Neutropenia

Articles related to Autosomal Dominant Severe Congenital Neutropenia:

#	Title	Authors	PMID	Year
1	In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis. ⁶²	Shinwari K...Chereshnev VA	35571273	2022
2	Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia. ⁶²	Van Nieuwenhove E...Liston A	32325141	2020
3	Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. ⁶²	Malcov M...Yaron Y	20049848	2010

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Genes for Autosomal Dominant Severe Congenital Neutropenia

Genes related to Autosomal Dominant Severe Congenital Neutropenia (5 elite genes):

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	363.5	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)	12778173
2	ELANE	Elastase, Neutrophil Expressed	Protein Coding	355.1	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴
3	SRP54	Signal Recognition Particle 54	Protein Coding	355.02	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	29914977
4	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	354.43	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	24753205
5	CLPB	Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit B	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	34115842
6	JAGN1	Jagunal Homolog 1	Protein Coding	5.95	DISEASES inferred ¹⁴
7	DNAJC21	DnaJ Heat Shock Protein Family (Hsp40) Member C21	Protein Coding	5.62	DISEASES inferred ¹⁴
8	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	5.43	DISEASES inferred ¹⁴
9	SEC61A1	SEC61 Translocon Subunit Alpha 1	Protein Coding	5.39	DISEASES inferred ¹⁴
10	MIMT1	MER1 Repeat Containing Imprinted Transcript 1	RNA Gene	5.11	DISEASES inferred ¹⁴
11	SBDS	SBDS Ribosome Maturation Factor	Protein Coding	5.08	DISEASES inferred ¹⁴
12	SCN11A	Sodium Voltage-Gated Channel Alpha Subunit 11	Protein Coding	4.83	DISEASES inferred ¹⁴
13	FIZ1	FLT3 Interacting Zinc Finger 1	Protein Coding	4.82	DISEASES inferred ¹⁴
14	SNORD80	Small Nucleolar RNA, C/D Box 80	RNA Gene	4.8	DISEASES inferred ¹⁴
15	DNAJC3	DnaJ Heat Shock Protein Family (Hsp40) Member C3	Protein Coding	4.79	DISEASES inferred ¹⁴
16	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	4.75	DISEASES inferred ¹⁴
17	HAX1	HCLS1 Associated Protein X-1	Protein Coding	4.72	DISEASES inferred ¹⁴
18	LAMTOR2	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2	Protein Coding	4.54	DISEASES inferred ¹⁴
19	PDE3A	Phosphodiesterase 3A	Protein Coding	4.53	DISEASES inferred ¹⁴
20	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	4.51	DISEASES inferred ¹⁴
21	SEC61G	SEC61 Translocon Subunit Gamma	Protein Coding	4.48	DISEASES inferred ¹⁴
22	PCDH19	Protocadherin 19	Protein Coding	4.48	DISEASES inferred ¹⁴
23	NAA10	N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit	Protein Coding	4.46	DISEASES inferred ¹⁴
24	SLC37A4	Solute Carrier Family 37 Member 4	Protein Coding	4.45	DISEASES inferred ¹⁴
25	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	4.43	DISEASES inferred ¹⁴
26	ATP6V1E2	ATPase H+ Transporting V1 Subunit E2	Protein Coding	4.41	DISEASES inferred ¹⁴
27	ATP6V1G3	ATPase H+ Transporting V1 Subunit G3	Protein Coding	4.34	DISEASES inferred ¹⁴
28	PDE4B	Phosphodiesterase 4B	Protein Coding	4.33	DISEASES inferred ¹⁴
29	NRN1	Neuritin 1	Protein Coding	4.31	DISEASES inferred ¹⁴
30	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	4.29	DISEASES inferred ¹⁴
31	KRT24	Keratin 24	Protein Coding	4.26	DISEASES inferred ¹⁴

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Variations for Autosomal Dominant Severe Congenital Neutropenia

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Expression for Autosomal Dominant Severe Congenital Neutropenia

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

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Pathways for Autosomal Dominant Severe Congenital Neutropenia

Pathways related to Autosomal Dominant Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Interaction between L1 and Ankyrins ⁶⁶	10.11	SCN1A SCN11A

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GO Terms for Autosomal Dominant Severe Congenital Neutropenia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane depolarization during action potential	GO:0086010	9.71	SCN1A SCN11A
2	protein targeting to ER	GO:0045047	9.62	SRP54 SEC61A1
3	detection of mechanical stimulus involved in sensory perception of pain	GO:0050966	9.54	SCN1A SCN11A
4	granulocyte differentiation	GO:0030851	9.43	SRP54 CLPB
5	cellular response to cold	GO:0070417	9.33	SCN11A DNAJC3
6	SRP-dependent cotranslational protein targeting to membrane	GO:0006614	9.26	SRP54 SEC61A1
7	SRP-dependent cotranslational protein targeting to membrane, translocation	GO:0006616	8.92	SRP54 SEC61A1

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Sources for Autosomal Dominant Severe Congenital Neutropenia

¹ BitterDB

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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³¹ ICD10

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³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶¹ PubChem

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

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: ATS483 MIFTS: 33	Autosomal Dominant 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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Autosomal Dominant Severe Congenital Neutropenia

Aliases & Classifications for Autosomal Dominant Severe Congenital Neutropenia

MalaCards integrated aliases for Autosomal Dominant Severe Congenital Neutropenia:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Autosomal Dominant Severe Congenital Neutropenia

Related Diseases for Autosomal Dominant Severe Congenital Neutropenia

Diseases in the Neutropenia family:

Diseases related to Autosomal Dominant Severe Congenital Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Autosomal Dominant Severe Congenital Neutropenia

Human phenotypes related to Autosomal Dominant Severe Congenital Neutropenia:

Drugs & Therapeutics for Autosomal Dominant Severe Congenital Neutropenia

Genetic Tests for Autosomal Dominant Severe Congenital Neutropenia

Anatomical Context for Autosomal Dominant Severe Congenital Neutropenia

Organs/tissues related to Autosomal Dominant Severe Congenital Neutropenia:

Publications for Autosomal Dominant Severe Congenital Neutropenia

Articles related to Autosomal Dominant Severe Congenital Neutropenia:

Genes for Autosomal Dominant Severe Congenital Neutropenia

Genes related to Autosomal Dominant Severe Congenital Neutropenia (5 elite genes):

Variations for Autosomal Dominant Severe Congenital Neutropenia

Expression for Autosomal Dominant Severe Congenital Neutropenia

Pathways for Autosomal Dominant Severe Congenital Neutropenia

Pathways related to Autosomal Dominant Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

GO Terms for Autosomal Dominant Severe Congenital Neutropenia

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

Sources for Autosomal Dominant Severe Congenital Neutropenia