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

MCID: SVR003 MIFTS: 58	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]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

Sources

Aliases & Classifications for Severe Congenital Neutropenia

MalaCards integrated aliases for Severe Congenital Neutropenia:

Name: Severe Congenital Neutropenia ¹¹ ¹⁹ ⁴² ⁵⁸ ²⁸ ⁵ ¹⁴ ³⁶ ⁷¹ ⁷⁵

Congenital Neutropenia ⁴² ²⁸ ⁵

Neutropenia, Severe Congenital ⁵³ ³⁸

Severe Infantile Genetic Neutropenia ⁴²

Infantile Genetic Agranulocytosis ⁴²

Congenital Agranulocytosis ⁴²

Kostmann's Agranulocytosis ⁴²

Kostmann's Syndrome ⁴²

Kostmann Disease ⁴²

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive ⁵⁸

Prevelance:

1-9/1000000 (Europe, Europe, France) 1-9/100000 (Sweden) <1/1000000 (Iran, Islamic Republic of) 1-5/10000 (China) ⁵⁸

Age Of Onset:

Childhood ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Agranulocytosis

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹¹ DOID:0050590

ICD10 ³¹ D70

MESH via Orphanet ⁴⁴ C537592

ICD10 via Orphanet ³² D70

UMLS via Orphanet ⁷² C1853118

Orphanet ⁵⁸ ORPHA42738

UMLS ⁷¹ C1853118

Sources

Summaries for Severe Congenital Neutropenia

MedlinePlus Genetics: ⁴² Severe congenital neutropenia is a condition that increases the risk of repeated infections in affected individuals. People with this condition have an abnormally low level (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The shortage of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to frequent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and likely to fracture. In people with severe congenital neutropenia, bone disorders can begin at any time from infancy through adulthood.Approximately 20 percent of people with severe congenital neutropenia develop certain cancerous conditions of the blood, particularly myelodysplastic syndrome or leukemia during adolescence.Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.

MalaCards based summary: Severe Congenital Neutropenia, also known as congenital neutropenia, is related to severe congenital neutropenia 7 and severe congenital neutropenia 4. An important gene associated with Severe Congenital Neutropenia is CSF3R (Colony Stimulating Factor 3 Receptor), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. The drugs Vidarabine and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and heart, and related phenotypes are Reduced mammosphere formation and Increased transferrin (TF) endocytosis (mild increase), increased transferrin (TF) endosome elongation

Orphanet: ⁵⁸ Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit.

Disease Ontology: ¹¹ A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.

Wikipedia: ⁷⁵ Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of... more...

Sources

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

(show top 50) (show all 293)

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 7	33.3	SRP54 JAGN1 HAX1 GFI1 G6PC3 CSF3R
2	severe congenital neutropenia 4	33.2	HAX1 G6PC3
3	severe congenital neutropenia 6	33.2	JAGN1 G6PC3
4	neutropenia, severe congenital, 3, autosomal recessive	33.2	IL3 HAX1 ELANE CSF3R CSF3 CSF2
5	severe congenital neutropenia 3	33.2	JAGN1 HAX1 GFI1 G6PC3 ELANE CSF3R
6	severe congenital neutropenia 5	33.1	JAGN1 HAX1 GFI1 G6PC3
7	autosomal dominant severe congenital neutropenia	33.1	TCIRG1 SRP54 JAGN1 HAX1 GFI1 G6PC3
8	autosomal recessive severe congenital neutropenia	32.9	HAX1 G6PC3
9	neutropenia, severe congenital, 1, autosomal dominant	32.5	TCIRG1 ELANE
10	cohen syndrome	32.3	JAGN1 HAX1 G6PC3
11	cyclic neutropenia	32.3	KITLG JAGN1 IL3 HAX1 GFI1 G6PC3
12	neutropenia	32.0	SRP54 PTPN11 LEF1 KITLG JAK2 JAGN1
13	leukemia, acute myeloid	31.5	PTPN11 KITLG JAK2 IL3 GFI1 CSF3R
14	myelodysplastic syndrome	31.4	PTPN11 KITLG JAK2 IL3 CSF3R CSF3
15	leukemia	31.3	PTPN11 JAK2 IL3 CSF3R CSF2 CEBPA
16	myeloid leukemia	31.2	PTPN11 KITLG JAK2 IL3 CSF3R CSF3
17	granulocytopenia	31.0	IL3 CSF3 CSF2
18	acute leukemia	30.8	KITLG JAK2 IL3 CSF3R CSF3 CSF2
19	leukemia, acute lymphoblastic	30.8	PTPN11 LEF1 KITLG JAK2 IL3 CSF3R
20	chronic neutrophilic leukemia	30.7	JAK2 CSF3R CSF3
21	myelofibrosis	30.7	JAK2 IL3 CSF3R CSF3
22	shwachman-diamond syndrome 1	30.7	SRPRA SRP54 SRP19 HAX1 GFI1 G6PC3
23	bacterial infectious disease	30.6	IL3 ELANE CSF3 CSF2
24	deficiency anemia	30.6	KITLG JAK2 IL3 CSF3R CSF3 CSF2
25	chronic myelomonocytic leukemia	30.5	PTPN11 KITLG JAK2 IL3 CSF3R CSF3
26	whim syndrome 1	30.5	HAX1 G6PC3 ELANE CSF3R CSF3
27	thrombocytopenia	30.5	TCIRG1 PTPN11 KITLG JAK2 IL3 CSF3
28	neutrophilia, hereditary	30.5	JAK2 IL3 CSF3R CSF3 CSF2
29	bacterial pneumonia	30.5	ELANE CSF3 CSF2
30	acute megakaryocytic leukemia	30.4	JAK2 IL3 CSF2 CEBPA
31	pancytopenia	30.4	IL3 G6PC3 CSF3 CSF2
32	blood platelet disease	30.4	JAK2 IL3 CSF3 CSF2
33	myeloproliferative neoplasm	30.4	PTPN11 KITLG JAK2 IL3 CSF3R CSF3
34	dyskeratosis congenita	30.4	KITLG HAX1 CSF3 CSF2 CEBPA
35	aplastic anemia	30.4	KITLG IL3 CSF3R CSF3 CSF2
36	hematologic cancer	30.4	PTPN11 KITLG JAK2 IL3 CSF3 CSF2
37	leukemia, chronic myeloid	30.2	PTPN11 LEF1 KITLG JAK2 IL3 ELANE
38	diamond-blackfan anemia	30.2	KITLG JAK2 IL3 CSF3 CEBPA
39	hypereosinophilic syndrome	29.9	JAK2 IL3 CSF2
40	neutropenia, severe congenital, x-linked	11.8
41	neutropenia, severe congenital, 2, autosomal dominant	11.6
42	severe congenital neutropenia 8	11.6
43	severe congenital neutropenia 1	11.5
44	severe congenital neutropenia 2	11.5
45	neutropenia, severe congenital, 5, autosomal recessive	11.5
46	autosomal recessive severe congenital neutropenia due to cxcr2 deficiency	11.4
47	neutropenia, severe congenital, 7, autosomal recessive	11.3
48	neutropenia, severe congenital, 8, autosomal dominant	11.3
49	neutropenia, severe congenital, 9, autosomal dominant	11.3
50	neutropenia, severe congenital, 4, autosomal recessive	11.3

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

Sources

Symptoms & Phenotypes for Severe Congenital Neutropenia

GenomeRNAi Phenotypes related to Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.15	BIRC5 CEBPA CSF2 CSF3 CSF3R ELANE
2	no effect	GR00402-S-2	10.15	CEBPA CSF2 CSF3 CSF3R ELANE FCHO1
3	Reduced mammosphere formation	GR00396-S	9.5	BIRC5 CEBPA CSF3 CSF3R PTPN11 SRP54
4	Increased transferrin (TF) endocytosis (mild increase), increased transferrin (TF) endosome elongation	GR00363-A	8.85	LEF1

MGI Mouse Phenotypes related to Severe Congenital Neutropenia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	10.13	BIRC5 CEBPA CSF2 CSF3R G6PC3 GFI1
2	cellular	MP:0005384	10.07	BIRC5 CEBPA CSF2 CSF3R GFI1 HAX1
3	immune system	MP:0005387	10.06	BIRC5 CEBPA CSF2 CSF3 CSF3R ELANE
4	neoplasm	MP:0002006	9.91	CEBPA CSF2 ELANE IL3 JAK2 KITLG
5	hematopoietic system	MP:0005397	9.86	BIRC5 CEBPA CSF2 CSF3 CSF3R ELANE
6	mortality/aging	MP:0010768	9.47	BIRC5 CEBPA CSF2 CSF3R ELANE G6PC3

Sources

Drugs & Therapeutics for Severe Congenital Neutropenia

Drugs for Severe Congenital Neutropenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 63)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Vidarabine

Approved, Investigational

Phase 2, Phase 3

24356-66-9

21704

Lenograstim

Approved, Investigational

Phase 2, Phase 3

135968-09-1

Antiviral Agents

Phase 2, Phase 3

Anti-Infective Agents

Phase 2, Phase 3

Adjuvants, Immunologic

Phase 2, Phase 3

Antineoplastic Agents, Immunological

Phase 2, Phase 3

Mycophenolic acid

Approved, Investigational

Phase 2

24280-93-1

446541

Prednisolone phosphate

Approved, Vet_approved

Phase 2

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 2

52-21-1

Prednisolone

Approved, Vet_approved

Phase 2

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 2

2921-57-5

1875

Levoleucovorin

Approved, Experimental, Investigational

Phase 2

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methylprednisolone

Approved, Vet_approved

Phase 2

83-43-2

4159 6741

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

4112 126941

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643

Mechlorethamine

Approved, Investigational

Phase 2

51-75-2

4033

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751 657237

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Rituximab

Approved

Phase 2

174722-31-7

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

D-Phenylalanine

Approved, Experimental, Investigational, Nutraceutical

Phase 2

63-91-2, 673-06-3

6140 71567

Prednisolone hemisuccinate

Experimental

Phase 2

2920-86-7

4897

Cyclosporins

Phase 2

Folic Acid Antagonists

Phase 2

Folate

Phase 2

Vitamin B9

Phase 2

Neuroprotective Agents

Phase 2

Hormones

Phase 2

Calcineurin Inhibitors

Phase 2

Vitamin B Complex

Phase 2

Hormone Antagonists

Phase 2

Antifungal Agents

Phase 2

Antiemetics

Phase 2

Anti-Inflammatory Agents

Phase 2

glucocorticoids

Phase 2

Methylprednisolone Acetate

Phase 2

584547

Gastrointestinal Agents

Phase 2

Protective Agents

Phase 2

Anti-Bacterial Agents

Phase 2

Antitubercular Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Antirheumatic Agents

Phase 2

Immunosuppressive Agents

Phase 2

Immunologic Factors

Phase 2

Vaccines

Phase 1, Phase 2

Alkylating Agents

Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Interventional clinical trials:

(show all 15)

#	Name	Status	NCT ID	Phase	Drugs
1	Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism	Completed	NCT00176852	Phase 2, Phase 3	Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
2	Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission	Completed	NCT00305708	Phase 1, Phase 2	busulfan;fludarabine phosphate
3	Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia	Completed	NCT00301834	Phase 2	busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
4	A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation	Completed	NCT01529827	Phase 2	fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
5	A Phase 1b/2, Open-Label, Multicenter Study of Mavorixafor in Patients With Congenital Neutropenia and Chronic Neutropenia Disorders	Recruiting	NCT04154488	Phase 1, Phase 2	Mavorixafor
6	CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease	Active, not recruiting	NCT01966367	Phase 1, Phase 2
7	A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells	Active, not recruiting	NCT03333486	Phase 2	Cyclophosphamide;Fludarabine Phosphate
8	Pilot Prospective Clinical Study of Safety and Efficacy of Conditioning Regimen With Total Lymphoid Irradiation Before Allogeneic Hematopoietic Stem Cell Transplantation With TCRab/CD19 Graft Depletion in Severe Congenital Neutropenia	Not yet recruiting	NCT04844177	Phase 2
9	Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases	Completed	NCT01917708	Phase 1	Abatacept
10	Stem Cell Enriched, T Cell Depleted Haplocompatible Peripheral Blood Transplantation for Children With Myelodysplastic Disease, Leukemia, Marrow Failure Syndromes, or Severe Immunodeficiency Diseases	Completed	NCT00295971	Phase 1	fludarabine phosphate;thiotepa
11	A Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency	Recruiting	NCT05078879	Phase 1	Empagliflozin
12	Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies	Completed	NCT02866162
13	Investigation of the Genetics of Hematologic Diseases	Recruiting	NCT02720679
14	MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders	Recruiting	NCT02179359		Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
15	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study	Terminated	NCT01319851		Alefacept

Search NIH Clinical Center for Severe Congenital Neutropenia

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Severe Congenital Neutropenia cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Severe Congenital Neutropenia:

	ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
	Hematopoietic stem cells for refractory severe aplastic anemia or refractory cytopenias

Embryonic/Adult Cultured Cells Related to Severe Congenital Neutropenia:

	Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905
	Peripheral blood-derived hematopoietic stem cells

Sources

Genetic Tests for Severe Congenital Neutropenia

Genetic tests related to Severe Congenital Neutropenia:

#	Genetic test	Affiliating Genes
1	Severe Congenital Neutropenia ²⁸
2	Congenital Neutropenia ²⁸

Sources

Anatomical Context for Severe Congenital Neutropenia

Organs/tissues related to Severe Congenital Neutropenia:

MalaCards : Bone, Liver, Heart, Skin, Bone Marrow, Myeloid, Neutrophil

Sources

Publications for Severe Congenital Neutropenia

Articles related to Severe Congenital Neutropenia:

(show top 50) (show all 896)

#	Title	Authors	PMID	Year
1	Ela2 mutations and clinical manifestations in familial congenital neutropenia. ⁵³ ⁶² ⁵	Shiohara M...Koike K	19415009	2009
2	Neutrophil elastase in cyclic and severe congenital neutropenia. ⁵³ ⁶² ⁵	Horwitz MS...Salipante SJ	17053055	2007
3	Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. ⁵³ ⁶² ⁵	Bellanne-Chantelot C...Donadieu J	14962902	2004
4	Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. ⁵³ ⁶² ⁵	Ancliff PJ...Linch DC	11675333	2001
5	Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. ⁵³ ⁶² ⁵	Dale DC...Horwitz M	11001877	2000
6	Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry. ⁶² ⁵	Yilmaz Karapinar D...Yilmaz S	31321910	2019
7	Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. ⁶² ⁵	Liu Q...Forsman H	31176364	2019
8	Successful second hematopoietic cell transplantation in severe congenital neutropenia. ⁶² ⁵	Hashem H...Bajwa RPS	29076228	2018
9	JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. ⁶² ⁵	Boztug K...Klein C	25129144	2014
10	TCIRG1-associated congenital neutropenia. ⁶² ⁵	Makaryan V...UW Center for Mendelian Genomics	24753205	2014
11	The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. ⁶² ⁵	Germeshausen M...Ballmaier M	23463630	2013
12	Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells. ⁶² ⁵	Hiramoto T...Tsuji K	23382209	2013
13	Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia. ⁶² ⁵	Setty BA...Bajwa RP	21618407	2011
14	Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. ⁶² ⁵	Smith BN...Gale RE	19036076	2009
15	Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. ⁶² ⁵	Ishikawa N...Kobayashi M	18611981	2008
16	ELANE-Related Neutropenia ⁶² ⁵	Dale DC...Makaryan V	20301705	2002
17	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
18	Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. ⁵	Tidwell T...Horwitz MS	24184683	2014
19	Neutrophil elastase-processing defect in cyclic hematopoietic dogs. ⁵³ ⁶²	Meng R...Lothrop CD	19941936	2010
20	Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. ⁵³ ⁶²	Xia J...Link DC	19775295	2009
21	Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. ⁵³ ⁶²	Lunden L...Fadeel B	19694719	2009
22	Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1. ⁵³ ⁶²	Skokowa J...Welte K	19620402	2009
23	Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene. ⁵³ ⁶²	Lanciotti M...Dufour C	19594744	2009
24	Site-specific ubiquitination determines lysosomal sorting and signal attenuation of the granulocyte colony-stimulating factor receptor. ⁵³ ⁶²	Wolfler A...Touw IP	19453968	2009
25	A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia. ⁵³ ⁶²	Lee ST...Im HJ	18946670	2009
26	Gfi1 integrates progenitor versus granulocytic transcriptional programming. ⁵³ ⁶²	Horman SR...Grimes HL	19346496	2009
27	Survivin expression in the bone marrow of patients with severe congenital neutropenia. ⁵³ ⁶²	Carlsson G...Fadeel B	18818705	2009
28	Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. ⁵³ ⁶²	Zeidler C...Welte K	19120359	2009
29	Genetic and molecular diagnosis of severe congenital neutropenia. ⁵³ ⁶²	Ward AC...Dale DC	19057199	2009
30	A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report. ⁵³ ⁶²	Schroeder T...Haas R	18826620	2008
31	Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation. ⁵³ ⁶²	Yetgin S...Germeshausen M	18354489	2008
32	Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia. ⁵³ ⁶²	Ward AC...Dror Y	18513286	2008
33	Csf3r mutations in mice confer a strong clonal HSC advantage via activation of Stat5. ⁵³ ⁶²	Liu F...Link DC	18292815	2008
34	G-CSFR ubiquitination critically regulates myeloid cell survival and proliferation. ⁵³ ⁶²	Ai J...Avalos BR	18923646	2008
35	Severe congenital neutropenia and the unfolded protein response. ⁵³ ⁶²	Xia J...Link DC	18043239	2008
36	Chronic idiopathic neutropenias and severe congenital neutropenia. ⁵³ ⁶²	Palmblad J...Papadaki HA	18043240	2008
37	Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. ⁵³ ⁶²	Rosenberg PS...Dale DC	18028488	2008
38	Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? ⁵³ ⁶²	Schaffer AA...Klein C	17989524	2007
39	Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. ⁵³ ⁶²	Grenda DS...Link DC	17761833	2007
40	Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. ⁵³ ⁶²	Salipante SJ...Horwitz MS	17436313	2007
41	G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. ⁵³ ⁶²	Donini M...Badolato R	17311988	2007
42	LEF-1 is a decisive transcription factor in neutrophil granulopoiesis. ⁵³ ⁶²	Skokowa J...Welte K	17360796	2007
43	Current diagnosis of inherited bone marrow failure syndromes. ⁵³ ⁶²	Tamary H...Alter BP	17454774	2007
44	The role of the granulocyte colony-stimulating factor receptor (G-CSF-R) in disease. ⁵³ ⁶²	Ward AC	17127322	2007
45	Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. ⁵³ ⁶²	Germeshausen M...Welte K	16985178	2007
46	A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter. ⁵³ ⁶²	Matsushita H...Miyachi H	16795059	2006
47	Molecular screening of the neutrophil elastase gene in congenital neutropenia. ⁵³ ⁶²	Thomas M...Chandy M	17202606	2006
48	Src family kinases are important negative regulators of G-CSF-dependent granulopoiesis. ⁵³ ⁶²	Mermel CH...Link DC	16772601	2006
49	Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor. ⁵³ ⁶²	Sloand EM...Young NS	16980411	2006
50	The growth factor independence-1 transcription factor: new functions and new insights. ⁵³ ⁶²	Kazanjian A...Grimes HL	16716599	2006

Sources

Genes for Severe Congenital Neutropenia

Genes related to Severe Congenital Neutropenia (7 elite genes):

(show top 50) (show all 69)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	483.48	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Proteins (show sections)	32581362 11110716 9691084 (more) 9885206 9001427 15470047 9885205 9576194 9116280 11227095 12588357 15223604 19453968 14512302 9517498 8913314 17127322 11714811 16670064 12012328 9989983 7514305 18513286 7542747 10634179 10706885 10643150 7833487 19120359 16772601 18923646 18292815
2	ELANE	Elastase, Neutrophil Expressed	Protein Coding	462.74	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	11001877 11675333 14962902 (more) 17053055 18611981 19036076 19415009 20301705 21618407 23382209 23463630 24184683 29076228 31176364 31321910 18043239 12468929 17436313 12181069 19620402 14594802 12483111 17989524 12963840 18028488 17881644 16670064 16737875 14556775 12897784 17761833 15059607 19941936 19775295 19594744 18946670 18043240 17202606 14673143 12778173 12384420 12531802 15604887 19694719 18632498 16795059 17454774 12165204 19057199 15657182
3	JAGN1	Jagunal Homolog 1	Protein Coding	425.35	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	25129144
4	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	404.68	Pathogenic ⁵ DISEASES inferred ¹⁴	24753205
5	SRP19	Signal Recognition Particle 19	Protein Coding	404.36	Pathogenic ⁵ DISEASES inferred ¹⁴
6	SRPRA	SRP Receptor Subunit Alpha	Protein Coding	403.91	Pathogenic ⁵ DISEASES inferred ¹⁴
7	FCHO1	FCH And Mu Domain Containing Endocytic Adaptor 1	Protein Coding	400	Pathogenic ⁵
8	HAX1	HCLS1 Associated Protein X-1	Protein Coding	37.08	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
9	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	37.03	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries Pathways & Interactions (show sections)
10	CSF3	Colony Stimulating Factor 3	Protein Coding	36.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Functions (show sections)	7539627 11146160 17311988 (more) 16500901 16229088 1371412 7678086 8638643 9116280 10914501 12422946 18923646 10449521 19694719 16497969 15642668 10233425 9989983 9326253 1707086 16980411 12731605 18354489 16584360 15813856 15353486 15198743 7693032 1705835 7513137 18826620 9691084 7577650 1708293 1689595 9421617 16898320 16985178
11	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	36.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	16500901 19775295 16716599 (more) 19346496 15604887
12	SRP54	Signal Recognition Particle 54	Protein Coding	33.28	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
13	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	22.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17360796 19620402
14	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	21.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Functions (show sections)
15	IL3	Interleukin 3	Protein Coding	19.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15640692
16	KITLG	KIT Ligand	Protein Coding	17.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10914501
17	CSF2	Colony Stimulating Factor 2	Protein Coding	16.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1689595
18	JAK2	Janus Kinase 2	Protein Coding	15.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8541539 10372134
19	BIRC5	Baculoviral IAP Repeat Containing 5	Protein Coding	13.25	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18818705
20	CEBPA	CCAAT Enhancer Binding Protein Alpha	Protein Coding	12.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	CEBPE	CCAAT Enhancer Binding Protein Epsilon	Protein Coding	12.73	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	12.44	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	MPO	Myeloperoxidase	Protein Coding	12.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	CTSG	Cathepsin G	Protein Coding	12.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	CISH	Cytokine Inducible SH2 Containing Protein	Protein Coding	11.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	CXCR2	C-X-C Motif Chemokine Receptor 2	Protein Coding	11.69	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
27	IL2	Interleukin 2	Protein Coding	11.57	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	TNF	Tumor Necrosis Factor	Protein Coding	11.4	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	CSF1	Colony Stimulating Factor 1	Protein Coding	11.32	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
30	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	11.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	WNT3A	Wnt Family Member 3A	Protein Coding	10.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
32	THPO	Thrombopoietin	Protein Coding	9.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10914501
33	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	8.8	DISEASES inferred ¹⁴ ¹⁴
34	LUC7L2	LUC7 Like 2, Pre-MRNA Splicing Factor	Protein Coding	8.26	DISEASES inferred ¹⁴ ¹⁴
35	PTPN6	Protein Tyrosine Phosphatase Non-Receptor Type 6	Protein Coding	7.59	GeneCards inferred via : Functions (show sections)
36	INPP5D	Inositol Polyphosphate-5-Phosphatase D	Protein Coding	7.49	GeneCards inferred via : Publications (show sections)
37	RUNX1	RUNX Family Transcription Factor 1	Protein Coding	7.49	GeneCards inferred via : Publications (show sections)
38	SRI	Sorcin	Protein Coding	7.43	GeneCards inferred via : Disorders (show sections)
39	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	7.41	DISEASES inferred ¹⁴
40	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	7.15	GeneCards inferred via : Publications (show sections)
41	GUSB	Glucuronidase Beta	Protein Coding	7.15	GeneCards inferred via : Publications (show sections)
42	LTF	Lactotransferrin	Protein Coding	7.15	GeneCards inferred via : Publications (show sections)
43	SHC1	SHC Adaptor Protein 1	Protein Coding	7.15	GeneCards inferred via : Publications (show sections)
44	SBDS	SBDS Ribosome Maturation Factor	Protein Coding	6.8	DISEASES inferred ¹⁴
45	SLC37A4	Solute Carrier Family 37 Member 4	Protein Coding	6.74	DISEASES inferred ¹⁴
46	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	6.41	DISEASES inferred ¹⁴
47	CAMP	Cathelicidin Antimicrobial Peptide	Protein Coding	6.35	DISEASES inferred ¹⁴
48	G6PC1	Glucose-6-Phosphatase Catalytic Subunit 1	Protein Coding	6.24	DISEASES inferred ¹⁴
49	GATA2	GATA Binding Protein 2	Protein Coding	6.12	DISEASES inferred ¹⁴
50	AK2	Adenylate Kinase 2	Protein Coding	5.84	DISEASES inferred ¹⁴

Sources

Variations for Severe Congenital Neutropenia

ClinVar genetic disease variations for Severe Congenital Neutropenia:

⁵ (show top 50) (show all 58)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ELANE	NM_001972.4(ELANE):c.214G>A (p.Val72Met)	SNV	Pathogenic	16744	rs387906553	GRCh37: 19:853022-853022 GRCh38: 19:853022-853022
2	ELANE	NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)	SNV	Pathogenic	16746	rs28931611	GRCh37: 19:853019-853019 GRCh38: 19:853019-853019
3	TCIRG1	NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)	SNV	Pathogenic Pathogenic	127173	rs587779413	GRCh37: 11:67817691-67817691 GRCh38: 11:68050224-68050224
4	CSF3R	NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)	SNV	Pathogenic	161982	rs606231473	GRCh37: 1:36937914-36937914 GRCh38: 1:36472313-36472313
5	CSF3R	NM_000760.4(CSF3R):c.948_963del (p.His317fs)	DEL	Pathogenic	242629	rs606231475	GRCh37: 1:36937873-36937888 GRCh38: 1:36472272-36472287
6	JAGN1	NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	SNV	Pathogenic	156113	rs587777727	GRCh37: 3:9932409-9932409 GRCh38: 3:9890725-9890725
7	JAGN1	NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln)	SNV	Pathogenic	190479	rs777966677	GRCh37: 3:9932465-9932465 GRCh38: 3:9890781-9890781
8	JAGN1	NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)	SNV	Pathogenic	190480	rs786205704	GRCh37: 3:9932446-9932446 GRCh38: 3:9890762-9890762
9	JAGN1	NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter)	SNV	Pathogenic	190481	rs786205705	GRCh37: 3:9934806-9934806 GRCh38: 3:9893122-9893122
10	JAGN1	NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	SNV	Pathogenic	156116	rs587777730	GRCh37: 3:9934994-9934994 GRCh38: 3:9893310-9893310
11	JAGN1	NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	SNV	Pathogenic	156115	rs587777729	GRCh37: 3:9932469-9932469 GRCh38: 3:9890785-9890785
12	ELANE	NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)	SNV	Pathogenic	208494	rs797045009	GRCh37: 19:855758-855758 GRCh38: 19:855758-855758
13	FCHO1	NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)	SNV	Pathogenic	805883	rs530286781	GRCh37: 19:17893924-17893924 GRCh38: 19:17783115-17783115
14	FCHO1	NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)	SNV	Pathogenic	805884	rs2086875746	GRCh37: 19:17873643-17873643 GRCh38: 19:17762834-17762834
15	FCHO1	NM_015122.3(FCHO1):c.2023dup (p.Val675fs)	DUP	Pathogenic	805885	rs2093571190	GRCh37: 19:17893910-17893911 GRCh38: 19:17783101-17783102
16	FCHO1	NM_015122.3(FCHO1):c.489+1G>A	SNV	Pathogenic	805886	rs2091196149	GRCh37: 19:17881387-17881387 GRCh38: 19:17770578-17770578
17	FCHO1	NM_015122.3(FCHO1):c.195-2A>C	SNV	Pathogenic	805887	rs2089298923	GRCh37: 19:17877476-17877476 GRCh38: 19:17766667-17766667
18	FCHO1	NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter)	SNV	Pathogenic	805888	rs1336566500	GRCh37: 19:17893836-17893836 GRCh38: 19:17783027-17783027
19	SRP19	NM_003135.3(SRP19):c.189+5G>A	SNV	Pathogenic	810839	rs1322282571	GRCh37: 5:112200230-112200230 GRCh38: 5:112864533-112864533
20	SRPRA	NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)	SNV	Pathogenic	810840	rs1950780024	GRCh37: 11:126134989-126134989 GRCh38: 11:126265094-126265094
21	ELANE	NM_001972.4(ELANE):c.669C>A (p.Cys223Ter)	SNV	Pathogenic	803509	rs1599294750	GRCh37: 19:856029-856029 GRCh38: 19:856029-856029
22	ELANE	NM_001972.4(ELANE):c.137C>T (p.Ser46Phe)	SNV	Pathogenic	372362	rs878855320	GRCh37: 19:852945-852945 GRCh38: 19:852945-852945
23	ELANE	NM_001972.4(ELANE):c.722G>A (p.Trp241Ter)	SNV	Pathogenic	986920	rs2035677025	GRCh37: 19:856082-856082 GRCh38: 19:856082-856082
24	ELANE	NM_001972.4(ELANE):c.1A>G (p.Met1Val)	SNV	Pathogenic	1343367		GRCh37: 19:852329-852329 GRCh38: 19:852329-852329
25	ELANE	NM_001972.4(ELANE):c.452G>C (p.Cys151Ser)	SNV	Pathogenic	1339552		GRCh37: 19:855649-855649 GRCh38: 19:855649-855649
26	ELANE	NM_001972.4(ELANE):c.574_583del (p.Gly192fs)	DEL	Pathogenic	1339651		GRCh37: 19:855768-855777 GRCh38: 19:855768-855777
27	JAGN1	NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	DEL	Pathogenic	156117	rs587777731	GRCh37: 3:9932436-9932444 GRCh38: 3:9890752-9890760
28	JAGN1	NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	SNV	Pathogenic	156114	rs587777728	GRCh37: 3:9934639-9934639 GRCh38: 3:9892955-9892955
29	CSF3R	NM_000760.4(CSF3R):c.1576+1G>A	SNV	Likely Pathogenic	812884	rs1031224658	GRCh37: 1:36934756-36934756 GRCh38: 1:36469155-36469155
30	CSF3R	NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)	SNV	Likely Pathogenic	812885	rs756667927	GRCh37: 1:36940999-36940999 GRCh38: 1:36475398-36475398
31	ELANE	NM_001972.4(ELANE):c.368T>C (p.Leu123Pro)	SNV	Likely Pathogenic	1012306		GRCh37: 19:855565-855565 GRCh38: 19:855565-855565
32	ELANE	NM_001972.4(ELANE):c.641G>A (p.Gly214Glu)	SNV	Likely Pathogenic	1301410		GRCh37: 19:856001-856001 GRCh38: 19:856001-856001
33	GFI1	NM_005263.5(GFI1):c.925-40CT[17]	MICROSAT	Conflicting Interpretations Of Pathogenicity	298182	rs35896485	GRCh37: 1:92944315-92944316 GRCh38: 1:92478758-92478759
34	GFI1	NM_005263.5(GFI1):c.925-40CT[25]	MICROSAT	Uncertain Significance	298181	rs35896485	GRCh37: 1:92944314-92944315 GRCh38: 1:92478757-92478758
35	GFI1	NM_005263.5(GFI1):c.925-40CT[20]	MICROSAT	Uncertain Significance	298179	rs35896485	GRCh37: 1:92944314-92944315 GRCh38: 1:92478757-92478758
36	GFI1	NM_005263.5(GFI1):c.925-40CT[13]	MICROSAT	Uncertain Significance	298186	rs35896485	GRCh37: 1:92944315-92944324 GRCh38: 1:92478758-92478767
37	GFI1	NM_005263.5(GFI1):c.925-40CT[23]	MICROSAT	Uncertain Significance	298183	rs35896485	GRCh37: 1:92944314-92944315 GRCh38: 1:92478757-92478758
38	GFI1	NM_005263.5(GFI1):c.925-40CT[22]	MICROSAT	Uncertain Significance	298180	rs35896485	GRCh37: 1:92944314-92944315 GRCh38: 1:92478757-92478758
39	ELANE	NM_001972.4(ELANE):c.284C>G (p.Thr95Ser)	SNV	Uncertain Significance	1687192		GRCh37: 19:853321-853321 GRCh38: 19:853321-853321
40	ELANE	NM_001972.4(ELANE):c.22G>A (p.Ala8Thr)	SNV	Uncertain Significance	242275	rs759486889	GRCh37: 19:852350-852350 GRCh38: 19:852350-852350
41	GFI1	NM_005263.5(GFI1):c.925-7_925-6insTCTCTT	MICROSAT	Uncertain Significance	298187	rs766365921	GRCh37: 1:92944316-92944317 GRCh38: 1:92478759-92478760
42	GFI1	NM_005263.5(GFI1):c.925-40CT[16]	MICROSAT	Uncertain Significance	298184	rs35896485	GRCh37: 1:92944315-92944318 GRCh38: 1:92478758-92478761
43	G6PC3	NM_138387.4(G6PC3):c.*1CTT[1]	MICROSAT	Uncertain Significance	323471	rs761219348	GRCh37: 17:42153412-42153414 GRCh38: 17:44076044-44076046
44	G6PC3	NM_138387.4(G6PC3):c.-191T>G	SNV	Uncertain Significance	323455	rs886052984	GRCh37: 17:42148143-42148143 GRCh38: 17:44070775-44070775
45	ELANE	NM_001972.4(ELANE):c.772C>T (p.Arg258Trp)	SNV	Uncertain Significance	1354571		GRCh37: 19:856132-856132 GRCh38: 19:856132-856132
46	ELANE	NM_001972.4(ELANE):c.461T>G (p.Met154Arg)	SNV	Uncertain Significance	1372707		GRCh37: 19:855658-855658 GRCh38: 19:855658-855658
47	ELANE	NM_001972.4(ELANE):c.437_457dup (p.Gly146_Leu152dup)	DUP	Uncertain Significance	1374105		GRCh37: 19:855627-855628 GRCh38: 19:855627-855628
48	ELANE	NM_001972.4(ELANE):c.550A>C (p.Ser184Arg)	SNV	Uncertain Significance	1370846		GRCh37: 19:855747-855747 GRCh38: 19:855747-855747
49	overlap with 26 genes	NC_000019.9:g.(?_589946)_(1106571_?)del	DEL	Uncertain Significance	1421361		GRCh37: 19:589946-1106571 GRCh38:
50	ELANE	NM_001972.4(ELANE):c.239T>C (p.Val80Ala)	SNV	Uncertain Significance	1442303		GRCh37: 19:853276-853276 GRCh38: 19:853276-853276

Sources

Expression for Severe Congenital Neutropenia

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

Sources

Pathways for Severe Congenital Neutropenia

Pathways directly related to Severe Congenital Neutropenia:

#	Pathway	Source
1	Severe congenital neutropenia type 4 (G6PC3)	Reactome ⁶⁶

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

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.23	CEBPA CSF2 CSF3 CSF3R IL3 JAK2
2	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.15	PTPN11 JAK2 IL3 CSF3R CSF3 CSF2
3	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	12.99	CSF2 CSF3 CSF3R IL3 JAK2 KITLG
4	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.69	KITLG JAK2 IL3 G6PC3 CSF3R CSF3
5	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.46	PTPN11 KITLG JAK2 IL3 CSF3R
6	NF-kappaB Signaling ³	12.4	KITLG JAK2 IL3 CEBPA
7	Interleukin-2 family signaling ⁶⁶ Show member pathways Interleukin receptor SHC signaling ⁶⁶ Interleukin-15 signaling ⁶⁶ Interleukin-21 signaling ⁶⁶ Interleukin-3, Interleukin-5 and GM-CSF signaling ⁶⁶ Regulation of signaling by CBL ⁶⁶ Signaling by CSF1 (M-CSF) in myeloid cells ⁶⁶	12.1	PTPN11 JAK2 IL3 CSF2
8	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ⁶⁷ IL-17 signaling pathway ⁷⁴ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.08	JAK2 CSF3 CSF2 CEBPA
9	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	11.84	PTPN11 KITLG JAK2
10	Gastrin signaling pathway ⁷⁴	11.8	PTPN11 JAK2 BIRC5
11	Signaling by SCF-KIT ⁶⁶ Show member pathways Regulation of KIT signaling ⁶⁶ Signaling by KIT in disease ⁶⁶ Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants ⁶⁶	11.74	PTPN11 KITLG JAK2
12	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.69	JAK2 CSF3 CSF2
13	Immune response IL-2 activation and signaling pathway ²² Show member pathways IL-2 signaling pathway ⁷⁴ Immune response IL-3 activation and signaling pathway ²²	11.64	PTPN11 JAK2 IL3
14	C-MYB transcription factor network ⁶¹	11.46	LEF1 KITLG ELANE CEBPA
15	Hepatitis C and hepatocellular carcinoma ⁷⁴	11.39	BIRC5 LEF1 PTPN11
16	IL3-mediated signaling events ⁶¹ Show member pathways GMCSF-mediated signaling events ⁶¹ IL5-mediated signaling events ⁶¹	11.3	PTPN11 JAK2 IL3 CSF2
17	Interleukin-11 signaling pathway ⁷⁴	11.28	PTPN11 JAK2 BIRC5
18	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.09	KITLG IL3 CSF3R CSF3 CSF2
19	Cytokines and inflammatory response ⁷⁴	11.01	IL3 CSF3 CSF2
20	Signaling by CSF3 (G-CSF) ⁶⁶ Show member pathways Inactivation of CSF3 (G-CSF) signaling ⁶⁶	11	PTPN11 JAK2 CSF3R CSF3

Sources

GO Terms for Severe Congenital Neutropenia

Cellular components related to Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	signal recognition particle	GO:0048500	9.13	SRP54 SRP19
2	granulocyte macrophage colony-stimulating factor receptor complex	GO:0030526	8.92	JAK2 CSF2

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell population proliferation	GO:0008284	10.2	TCIRG1 LEF1 KITLG JAK2 IL3 CSF3
2	cytokine-mediated signaling pathway	GO:0019221	10.13	PTPN11 JAK2 CSF3R CSF3 CEBPA
3	cellular response to lipopolysaccharide	GO:0071222	10.11	JAK2 GFI1 CSF3 CSF2
4	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	10.01	JAK2 IL3 CSF2
5	granulocyte differentiation	GO:0030851	9.88	SRP54 CSF3 CEBPA
6	cellular response to cytokine stimulus	GO:0071345	9.86	CSF3 HAX1 LEF1 TCIRG1
7	cotranslational protein targeting to membrane	GO:0006613	9.83	SRPRA SRP19
8	positive regulation of granulocyte differentiation	GO:0030854	9.8	LEF1 HAX1
9	positive regulation of leukocyte proliferation	GO:0070665	9.78	CSF2 JAK2
10	granulocyte-macrophage colony-stimulating factor signaling pathway	GO:0038157	9.76	JAK2 CSF2
11	SRP-dependent cotranslational protein targeting to membrane	GO:0006614	9.67	SRP19 SRP54 SRPRA
12	neutrophil differentiation	GO:0030223	9.63	LEF1 JAGN1 CSF2
13	myeloid cell differentiation	GO:0030099	9.43	TCIRG1 JAK2 CSF2 CEBPA
14	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.4	PTPN11 KITLG JAK2 IL3 HAX1 CSF3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	growth factor activity	GO:0008083	9.56	KITLG IL3 CSF3 CSF2
2	peptide hormone receptor binding	GO:0051428	9.46	PTPN11 JAK2
3	7S RNA binding	GO:0008312	8.92	SRP54 SRP19