MCID: SVR003
MIFTS: 56

Severe Congenital Neutropenia

Categories: Genetic diseases, Blood diseases, Rare diseases, Bone diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Severe Congenital Neutropenia

MalaCards integrated aliases for Severe Congenital Neutropenia:

Name: Severe Congenital Neutropenia 38 12 24 25 29 14 69
Congenital Neutropenia 25 29
Severe Infantile Genetic Neutropenia 25
Infantile Genetic Agranulocytosis 25
Neutropenia, Severe Congenital 52
Congenital Agranulocytosis 25
Kostmann's Agranulocytosis 25
Kostmann's Syndrome 25
Kostmann Disease 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050590
ICD10 33 D70

Summaries for Severe Congenital Neutropenia

Genetics Home Reference : 25 Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent 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 prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.

MalaCards based summary : Severe Congenital Neutropenia, also known as congenital neutropenia, is related to neutropenia, severe congenital 3, autosomal recessive and neutropenia, severe congenital 1, autosomal dominant. An important gene associated with Severe Congenital Neutropenia is CSF3R (Colony Stimulating Factor 3 Receptor), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, neutrophil and bone marrow, and related phenotypes are cellular and hematopoietic system

Disease Ontology : 12 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.

Related Diseases for Severe Congenital Neutropenia

Diseases in the Neutropenia family:

Neutropenia, Severe Congenital, 7, Autosomal Recessive Neutropenia, Severe Congenital 2, Autosomal Dominant
Neutropenia, Severe Congenital, 5, Autosomal Recessive Neutropenia, Severe Congenital 3, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive Neutropenia, Severe Congenital 4, Autosomal Recessive
Neutropenia, Severe Congenital 1, Autosomal Dominant Severe Congenital Neutropenia
Elane-Related Neutropenia Neutropenia Chronic Familial
Severe Congenital Neutropenia Autosomal Dominant Gata1-Related Neutropenia

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

(show top 50) (show all 80)
id Related Disease Score Top Affiliating Genes
1 neutropenia, severe congenital 3, autosomal recessive 32.2 CSF2 CSF3 CSF3R ELANE HAX1 IL3
2 neutropenia, severe congenital 1, autosomal dominant 31.6 CSF2 CSF3 ELANE IL3
3 severe congenital neutropenia autosomal dominant 12.1
4 autosomal recessive severe congenital neutropenia due to cxcr2 deficiency 12.0
5 neutropenia, severe congenital, x-linked 11.7
6 neutropenia, severe congenital, 5, autosomal recessive 11.6
7 neutropenia, severe congenital, 7, autosomal recessive 11.5
8 neutropenia, severe congenital, 6, autosomal recessive 11.2
9 neutropenia, severe congenital 4, autosomal recessive 11.1
10 neutropenia, severe congenital 2, autosomal dominant 11.1
11 reticular dysgenesis 10.9
12 2p16.1-p15 deletion syndrome 10.8 CSF3 ELANE
13 neutropenia 10.8
14 brachydactyly-distal symphalangism syndrome 10.5 CSF2 CSF3R
15 sideroblastic anemia 10.5 CSF2 IL3
16 west nile encephalitis 10.5 JAK2 PTPN11
17 enterovesical fistula 10.4 CSF2 CSF3
18 primary systemic mycosis 10.4 CSF2 CSF3
19 febrile seizures, familial, 2 10.4 ELANE TCIRG1
20 pontocerebellar hypoplasia type 2b 10.4 IL3 JAK2
21 leukemia 10.3
22 cystic adventitial disease 10.2 CSF2 IL3 KITLG
23 shaver's disease 10.2 ELANE GFI1 TCIRG1
24 spinocerebellar ataxia, autosomal recessive 21 10.2 CSF3 CSF3R ELANE IL3
25 methemoglobinemia 10.2 IL3 JAK2
26 granulomatous hepatitis 10.2 CSF2 IL3 JAK2
27 lymphangiectasia, intestinal 10.2 CSF2 CSF3 ELANE IL3
28 adult brainstem gliosarcoma 10.1 KITLG PTPN11
29 afferent loop syndrome 10.1 IL3 JAK2 KITLG
30 nephrolithiasis 10.1 CSF2 CSF3R JAK2 PTPN11
31 myeloid leukemia 10.0
32 toxic shock syndrome 10.0 CAMP ELANE
33 dic in newborn 10.0 CSF2 CSF3 IL3 KITLG
34 myelofibrosis with myeloid metaplasia, somatic 10.0 CSF3 IL3 JAK2
35 thrombocythemia 3 10.0 CSF3R IL3 JAK2 KITLG
36 hematopoietic stem cell transplantation 10.0
37 lacrimal system cancer 9.9 CSF2 CSF3 IL3 JAK2
38 osteoporosis 9.9
39 lymphoblastic leukemia 9.9
40 periodontitis 9.9
41 perichondritis of auricle 9.9 CSF3 JAK2 WAS
42 nephronophthisis 15 9.9 CSF2 JAK2 PTPN11
43 microcystic adenoma 9.9 CSF2 IL3 JAK2 KITLG
44 g6pc3 deficiency 9.9
45 mastoiditis 9.8
46 chronic neutrophilic leukemia 9.8
47 hypocalciuric hypercalcemia, type i 9.8 CSF2 CSF3 CSF3R IL3 KITLG
48 acute lymphoblastic leukemia, childhood 9.6 CSF3 IL3 JAK2
49 peroxisome biogenesis disorder 7a 9.6 CSF2 CSF3 IL3 JAK2 KITLG
50 myelodysplastic syndrome 9.6

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



Diseases related to Severe Congenital Neutropenia

Symptoms & Phenotypes for Severe Congenital Neutropenia

MGI Mouse Phenotypes related to Severe Congenital Neutropenia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 BIRC5 CAMP CSF2 CSF3R GFI1 HAX1
2 hematopoietic system MP:0005397 10.22 CSF2 CSF3 CSF3R ELANE G6PC3 GFI1
3 immune system MP:0005387 10.16 WAS BIRC5 CAMP CSF2 CSF3 CSF3R
4 endocrine/exocrine gland MP:0005379 10.11 BIRC5 CSF2 G6PC3 GFI1 HAX1 JAK2
5 mortality/aging MP:0010768 9.97 CSF3R ELANE G6PC3 GFI1 HAX1 JAK2
6 neoplasm MP:0002006 9.43 CSF2 ELANE JAK2 KITLG PTPN11 WAS
7 skeleton MP:0005390 9.23 CSF2 HAX1 JAK2 KITLG LEF1 PTPN11

Drugs & Therapeutics for Severe Congenital Neutropenia

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

(show top 50) (show all 66)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3, Early Phase 1 24356-66-9 32326 21704
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 216503-57-0
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
6
Lenograstim Approved Phase 2, Phase 3 135968-09-1
7 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
8 Anti-Infective Agents Phase 2, Phase 3, Early Phase 1
9 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
10 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
11 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
12 Antiviral Agents Phase 2, Phase 3, Early Phase 1
13 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
14 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
15 Adjuvants, Immunologic Phase 2, Phase 3
16
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
17
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
20
Melphalan Approved Phase 1, Phase 2, Early Phase 1 148-82-3 4053 460612
21 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
22
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
23
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
24
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
25
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
26
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
27
Mechlorethamine Approved Phase 2 51-75-2 4033
28
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
29
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
30 Antiemetics Phase 2,Phase 1
31 Antifungal Agents Phase 2
32 Anti-Inflammatory Agents Phase 2,Phase 1
33 Antineoplastic Agents, Hormonal Phase 2,Phase 1
34 Autonomic Agents Phase 2,Phase 1
35 Calcineurin Inhibitors Phase 2,Phase 1
36 Cyclosporins Phase 2,Phase 1
37 Dermatologic Agents Phase 2
38 Folic Acid Antagonists Phase 2
39 Gastrointestinal Agents Phase 2,Phase 1
40 glucocorticoids Phase 2,Phase 1
41 Hormone Antagonists Phase 2,Phase 1
42 Hormones Phase 2,Phase 1
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
44 Methylprednisolone acetate Phase 2,Phase 1
45 Methylprednisolone Hemisuccinate Phase 2,Phase 1
46 Neuroprotective Agents Phase 2,Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 2
48 Peripheral Nervous System Agents Phase 2,Phase 1
49 Prednisolone acetate Phase 2,Phase 1
50 Prednisolone hemisuccinate Phase 2,Phase 1

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
3 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
4 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
5 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
6 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
7 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
8 Donor Stem Cell Transplant in Treating Young Patients With Myelodysplastic Syndrome, Leukemia, Bone Marrow Failure Syndrome, or Severe Immunodeficiency Disease Completed NCT00295971 Phase 1 fludarabine phosphate;thiotepa
9 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
10 Screening for Genes in Patients With Congenital Neutropenia Completed NCT02866162
11 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
12 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 anti-thymocyte globulin;busulfan;cyclophosphamide
13 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
14 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
15 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
16 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
17 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
18 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Severe Congenital Neutropenia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Severe Congenital Neutropenia cell therapies at LifeMap Discovery.

Genetic Tests for Severe Congenital Neutropenia

Genetic tests related to Severe Congenital Neutropenia:

id Genetic test Affiliating Genes
1 Severe Congenital Neutropenia 29 24
2 Congenital Neutropenia 29

Anatomical Context for Severe Congenital Neutropenia

MalaCards organs/tissues related to Severe Congenital Neutropenia:

39
Bone, Neutrophil, Bone Marrow, Liver, Myeloid, Lung, Skin

Publications for Severe Congenital Neutropenia

Articles related to Severe Congenital Neutropenia:

(show top 50) (show all 243)
id Title Authors Year
1
Granulocyte colony-stimulating factor receptor signaling in severe congenital neutropenia, chronic neutrophilic leukemia, and related malignancies. ( 27789332 )
2017
2
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. ( 28453180 )
2017
3
A Truncated G-CSFR Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: Implication for Understanding CSF3R Mutations in Severe Congenital Neutropenia. ( 28073911 )
2017
4
A GCSFR/CSF3R zebrafish mutant models the persistent basal neutrophil deficiency of severe congenital neutropenia. ( 28281657 )
2017
5
Gangrenous appendicitis in a patient with severe congenital neutropenia. ( 27804250 )
2016
6
Long-term use of Pegfilgrastim in children with severe congenital neutropenia: clinical and pharmacokinetic data. ( 27621310 )
2016
7
Successful non-myeloablative allogenic bone marrow transplantation in a child with severe congenital neutropenia complicated by chronic pulmonary infection. ( 27384854 )
2016
8
A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear. ( 26808373 )
2016
9
Case Reports of Severe Congenital Neutropenia Treated With Unrelated Cord Blood Transplantation With Reduced-intensity Conditioning. ( 26599988 )
2016
10
Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. ( 26185129 )
2015
11
JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family. ( 25851723 )
2015
12
Genetic analysis and clinical picture of severe congenital neutropenia in Israel. ( 25284454 )
2015
13
Game of clones: the genomic evolution of severe congenital neutropenia. ( 26637693 )
2015
14
Lethal sepsis and malignant transformation in severe congenital neutropenia: Report from the Italian Neutropenia Registry. ( 25619745 )
2015
15
HSCT in severe congenital neutropenia. ( 26472738 )
2015
16
Recurrence of Neonatal Lupus Post-Cord Blood Transplant for Severe Congenital Neutropenia. ( 26195545 )
2015
17
A novel ELANE gene mutation in a patient with severe congenital neutropenia and intermittent thrombocytopenia. ( 25882539 )
2015
18
Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia. ( 26174650 )
2015
19
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-I^ deficiency. ( 25492228 )
2015
20
Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report. ( 25705433 )
2015
21
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. ( 26358756 )
2015
22
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. ( 25391451 )
2014
23
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. ( 24523240 )
2014
24
Successful treatment with allogenic hematopoietic stem cell transplantation of a severe congenital neutropenia patient harboring a novel ELANE mutation. ( 25501410 )
2014
25
Severe congenital neutropenia: new lane for ELANE. ( 24458273 )
2014
26
Clinical Characteristics of Severe Congenital Neutropenia caused by Novel ELANE Gene Mutations. ( 25162927 )
2014
27
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. ( 24750412 )
2014
28
Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis. ( 23975175 )
2014
29
Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene. ( 24616599 )
2014
30
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry. ( 25491320 )
2014
31
Inherited biallelic CSF3R mutations in severe congenital neutropenia. ( 24753537 )
2014
32
Severe congenital neutropenia with a novel ELANE mutation in 2 Mexican patients. ( 25219109 )
2014
33
Allogeneic stem cell transplantation for patients with acute myeloid leukaemia developing from severe congenital neutropenia. ( 24422727 )
2014
34
Sea-blue histiocytes in the bone marrow of a boy with severe congenital neutropenia associated with G6PC3 mutation. ( 24446813 )
2014
35
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. ( 23351986 )
2013
36
Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease? ( 23050867 )
2013
37
Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase. ( 23351987 )
2013
38
G6PC3 mutations cause non-syndromic severe congenital neutropenia. ( 23298686 )
2013
39
Prevalence of a new auto-activating colony stimulating factor 3 receptor mutation (CSF3R-T595I) in acute myeloid leukemia and severe congenital neutropenia. ( 23508011 )
2013
40
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. ( 24105461 )
2013
41
Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations). ( 23454784 )
2013
42
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders. ( 24341138 )
2013
43
Laryngeal stenosis in a patient with severe congenital neutropenia. ( 22628258 )
2013
44
Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells. ( 23382209 )
2013
45
Successful haploidentical PBSCT with subsequent T-cell addbacks in a boy with HyperIgM syndrome presenting as severe congenital neutropenia. ( 22928961 )
2013
46
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. ( 23441086 )
2013
47
Resolution of Inflammatory Colitis With Pegfilgrastim Treatment in a Case of Severe Congenital Neutropenia Due to Glucose 6 Phosphatase Catalytic Subunit-3 Deficiency. ( 24322501 )
2013
48
Granulocyte colony-stimulating factor receptor signaling: implications for G-CSF responses and leukemic progression in severe congenital neutropenia. ( 23351988 )
2013
49
Pro-B acute lymphoblastic leukemia in a patient with severe congenital neutropenia: an unusual form of malignant evolution. ( 23391142 )
2013
50
Severe congenital neutropenia and chronic neutrophilic leukemia: an intriguing molecular connection unveiled by oncogenic mutations in CSF3R. ( 24091926 )
2013

Variations for Severe Congenital Neutropenia

ClinVar genetic disease variations for Severe Congenital Neutropenia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Pathogenic rs587779413 GRCh37 Chromosome 11, 67817691: 67817691
2 JAGN1 NM_032492.3(JAGN1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587777727 GRCh38 Chromosome 3, 9890725: 9890725
3 JAGN1 NM_032492.3(JAGN1): c.130C> T (p.His44Tyr) single nucleotide variant Pathogenic rs587777728 GRCh37 Chromosome 3, 9934639: 9934639
4 JAGN1 NM_032492.3(JAGN1): c.63G> T (p.Glu21Asp) single nucleotide variant Pathogenic rs587777729 GRCh38 Chromosome 3, 9890785: 9890785
5 JAGN1 NM_032492.3(JAGN1): c.485A> G (p.Gln162Arg) single nucleotide variant Pathogenic rs587777730 GRCh38 Chromosome 3, 9893310: 9893310
6 JAGN1 NM_032492.3(JAGN1): c.35_43delCCGACGGCA (p.Thr12_Gly14del) deletion Pathogenic rs587777731 GRCh38 Chromosome 3, 9890757: 9890765
7 CSF3R NM_000760.3(CSF3R): c.922C> T (p.Arg308Cys) single nucleotide variant Pathogenic rs606231473 GRCh38 Chromosome 1, 36472313: 36472313
8 JAGN1 NM_032492.3(JAGN1): c.40G> A (p.Gly14Ser) single nucleotide variant Pathogenic rs786205704 GRCh38 Chromosome 3, 9890762: 9890762
9 JAGN1 NM_032492.3(JAGN1): c.59G> A (p.Arg20Gln) single nucleotide variant Pathogenic rs777966677 GRCh37 Chromosome 3, 9932465: 9932465
10 JAGN1 NM_032492.3(JAGN1): c.297C> G (p.Tyr99Ter) single nucleotide variant Pathogenic rs786205705 GRCh37 Chromosome 3, 9934806: 9934806

Expression for Severe Congenital Neutropenia

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

Pathways for Severe Congenital Neutropenia

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

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 BIRC5 CAMP CSF2 CSF3 CSF3R ELANE
2
Show member pathways
13.26 CSF2 CSF3 CSF3R IL3 JAK2 KITLG
3
Show member pathways
13.15 BIRC5 CSF2 CSF3 CSF3R IL3 JAK2
4
Show member pathways
13.04 CSF2 CSF3 CSF3R IL3 JAK2 KITLG
5 12.45 CSF3 CSF3R G6PC3 IL3 JAK2 KITLG
6
Show member pathways
12.36 CSF2 IL3 PTPN11 WAS
7
Show member pathways
12.03 IL3 JAK2 KITLG PTPN11
8
Show member pathways
11.98 CSF2 IL3 JAK2 PTPN11
9
Show member pathways
11.79 IL3 JAK2 PTPN11
10
Show member pathways
11.72 CSF2 CSF3 JAK2
11 11.72 CSF3R IL3 JAK2 PTPN11
12 11.63 ELANE KITLG LEF1
13 11.62 CSF2 CSF3 CSF3R IL3 KITLG
14 11.56 G6PC3 JAK2 PTPN11
15 11.42 BIRC5 LEF1 PTPN11
16 11.34 CSF2 CSF3 CSF3R IL3 KITLG
17
Show member pathways
11.34 CSF2 CSF3 CSF3R IL3 JAK2 PTPN11
18 11.33 BIRC5 JAK2 PTPN11
19 11.24 CSF2 CSF3 IL3 KITLG
20 11.06 CSF2 CSF3 IL3

GO Terms for Severe Congenital Neutropenia

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.81 CSF2 IL3 JAK2 KITLG
2 cytokine-mediated signaling pathway GO:0019221 9.71 CSF3 CSF3R IL3 JAK2
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 CSF3 HAX1 JAK2
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 CSF2 IL3 JAK2
5 cellular response to lipopolysaccharide GO:0071222 9.62 CAMP CSF2 CSF3 GFI1
6 positive regulation of cell proliferation GO:0008284 9.61 BIRC5 CAMP CSF2 CSF3 IL3 JAK2
7 positive regulation of actin cytoskeleton reorganization GO:2000251 9.55 CSF3 HAX1
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.55 CSF3 HAX1 IL3 JAK2 KITLG
9 negative regulation of growth of symbiont in host GO:0044130 9.54 CAMP ELANE
10 positive regulation of DNA replication GO:0045740 9.54 CSF2 IL3 KITLG
11 embryonic hemopoiesis GO:0035162 9.52 IL3 KITLG
12 positive regulation of granulocyte differentiation GO:0030854 9.43 HAX1 LEF1
13 cellular response to cytokine stimulus GO:0071345 9.43 CSF3 HAX1 LEF1
14 regulation of myeloid cell differentiation GO:0045637 9.19 CSF3R
15 neutrophil differentiation GO:0030223 8.8 CSF2 JAGN1 LEF1

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 CSF2 CSF3 IL3 KITLG
2 phospholipase binding GO:0043274 9.37 PTPN11 WAS
3 insulin receptor substrate binding GO:0043560 9.32 JAK2 PTPN11
4 peptide hormone receptor binding GO:0051428 9.26 JAK2 PTPN11
5 growth factor activity GO:0008083 9.26 CSF2 CSF3 IL3 KITLG
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.92 CSF2 IL3 JAK2 KITLG

Sources for Severe Congenital Neutropenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....