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NEUTROPHILIA
MCID: NTR018
MIFTS: 49

Neutrophilia, Hereditary (NEUTROPHILIA)

Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Neutrophilia, Hereditary

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MalaCards integrated aliases for Neutrophilia, Hereditary:

Name: Neutrophilia, Hereditary 57 13 44 39 70
Hereditary Neutrophilia 12 58 72 29 6 15
Neutrophilia 72 70
Leukocytosis 44 70

Characteristics:

Orphanet epidemiological data:

58
hereditary neutrophilia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
most patients clinically asymptomatic
myelodysplastic syndrome developed in 1 of 12 mutation-positive patients


HPO:

31
neutrophilia, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0090120
OMIM® 57 162830
SNOMED-CT 67 129639005
ICD10 via Orphanet 33 D72.8
UMLS via Orphanet 71 C0543669
Orphanet 58 ORPHA279943
MedGen 41 C0543669
UMLS 70 C0023518 C0543669 C3665444
Sources

Summaries for Neutrophilia, Hereditary

About this section
Disease Ontology : 12 A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.

MalaCards based summary : Neutrophilia, Hereditary, also known as hereditary neutrophilia, is related to chronic neutrophilic leukemia and bronchiolitis, and has symptoms including muscle weakness and polydipsia. An important gene associated with Neutrophilia, Hereditary is CSF3R (Colony Stimulating Factor 3 Receptor), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Cytarabine and Daunorubicin have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, lung and myeloid, and related phenotypes are thickened calvaria and myelodysplasia

UniProtKB/Swiss-Prot : 72 Hereditary neutrophilia: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.

More information from OMIM: 162830
Sources

Related Diseases for Neutrophilia, Hereditary

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Diseases related to Neutrophilia, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 697)
# Related Disease Score Top Affiliating Genes
1 chronic neutrophilic leukemia 30.6 U2AF1 SETBP1 LUC7L2 JAK2 CSF3R CSF3
2 bronchiolitis 30.4 IL6 CSF2 CRP
3 bronchiolitis obliterans 30.3 MPO IL6 CRP
4 paraneoplastic syndromes 30.3 PTHLH IL6 CSF3
5 hypereosinophilic syndrome 30.2 MPO JAK2 IL3 CSF2
6 atypical chronic myeloid leukemia 30.1 U2AF1 SETBP1 PTHLH LUC7L2 JAK2 FLT3
7 bronchitis 30.0 MPO IL6 CRP
8 proteasome-associated autoinflammatory syndrome 1 30.0 MPO IL6 CRP
9 pneumonia 29.9 MPO IL6 CSF3 CRP
10 myelophthisic anemia 29.9 U2AF1 JAK2
11 bacterial pneumonia 29.9 IL6 CSF3 CRP
12 peritonitis 29.9 MPO IL6 CRP
13 vasculitis 29.8 MPO IL6 CRP
14 pulmonary disease, chronic obstructive 29.8 MPO MIR223 IL6 CRP
15 bone resorption disease 29.8 PTHLH IL6 CRP
16 osteomyelitis 29.8 IL6 CSF3 CRP
17 otitis media 29.7 MPO IL6 CRP
18 otitis externa 29.7 IL6 CRP
19 bronchopneumonia 29.7 MPO IL6 CRP
20 pneumocystosis 29.7 IL6 CSF3 CRP
21 acute monoblastic leukemia 29.7 IL6 CSF2
22 pyelonephritis 29.7 IL6 CSF3 CRP
23 monoclonal gammopathy of uncertain significance 29.7 U2AF1 LUC7L2 IL6
24 pleural empyema 29.6 IL6 CRP
25 brain edema 29.6 IL6 CSF3 CRP
26 relapsing polychondritis 29.6 IL6 CSF3 CRP
27 bilirubin metabolic disorder 29.6 IL6 FLT3 CSF3 CRP
28 cholangitis 29.6 MPO IL6 CRP
29 urticaria 29.6 IL6 IL3 CRP
30 neutrophilic dermatosis, acute febrile 29.5 MPO CSF3 CRP
31 meningitis 29.5 IL6 CSF3 CSF2 CRP
32 cryptogenic organizing pneumonia 29.5 MPO CRP
33 aspergillosis 29.5 IL6 CSF3 CSF2
34 interstitial lung disease 29.5 IL6 CSF2 CRP
35 chorioamnionitis 29.4 IL6 CSF2 CRP
36 chlamydia 29.4 IL6 CSF2 CRP
37 chlamydia pneumonia 29.4 IL6 CRP
38 mastocytosis 29.4 JAK2 IL6 IL3 FLT3
39 thrombocytosis 29.4 JAK2 IL6 IL3 CSF3 CSF2 CRP
40 pharyngitis 29.4 IL6 CSF2 CRP
41 dysentery 29.4 MPO IL6 CRP
42 erythema nodosum 29.4 IL6 CSF2 CRP
43 bacterial infectious disease 29.4 IL6 IL3 CSF3 CSF2 CRP
44 polyarteritis nodosa 29.4 MPO IL6 CRP
45 acquired immunodeficiency syndrome 29.4 IL6 CSF2 CRP
46 severe combined immunodeficiency 29.4 IL6 IL3 FLT3 CSF3 CSF2
47 reactive arthritis 29.3 MPO IL6 CRP
48 cholangitis, primary sclerosing 29.3 MPO IL6 CRP
49 leukemia, acute monocytic 29.3 U2AF1 MPO IL6 FLT3
50 acute pancreatitis 29.3 MPO IL6 CRP

Graphical network of the top 20 diseases related to Neutrophilia, Hereditary:



Diseases related to Neutrophilia, Hereditary
Sources

Symptoms & Phenotypes for Neutrophilia, Hereditary

About this section

Human phenotypes related to Neutrophilia, Hereditary:

31
# Description HPO Frequency HPO Source Accession
1 thickened calvaria 31 HP:0002684
2 myelodysplasia 31 HP:0002863
3 hepatosplenomegaly 31 HP:0001433
4 neutrophilia 31 HP:0011897
5 elevated leukocyte alkaline phosphatase 31 HP:0008318

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
neutrophilia
segmented neutrophils or band cells greater than 70%

Clinical features from OMIM®:

162830 (Updated 05-Apr-2021)

UMLS symptoms related to Neutrophilia, Hereditary:


muscle weakness; polydipsia
Sources

Drugs & Therapeutics for Neutrophilia, Hereditary

About this section

Drugs for Neutrophilia, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
2
Daunorubicin Approved Phase 4 20830-81-3 30323
3
Idarubicin Approved Phase 4 58957-92-9 42890
4
Arsenic trioxide Approved, Investigational Phase 4 1327-53-3 518740
5
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 444795 5538
6 Dermatologic Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Immunologic Factors Phase 4
9 Antiviral Agents Phase 4
10 Antibiotics, Antitubercular Phase 4
11 Immunosuppressive Agents Phase 4
12 Keratolytic Agents Phase 4
13 Antimetabolites Phase 4
14 Anti-Bacterial Agents Phase 4
15
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
16
Povidone Approved Phase 3 9003-39-8 131751496
17
Povidone-iodine Approved Phase 3 25655-41-8
18
Ethanol Approved Phase 3 64-17-5 702
19
Chlorhexidine Approved, Vet_approved Phase 3 55-56-1 2713 9552079
20
Iodine Approved, Investigational Phase 3 7553-56-2 807
21
Cadexomer iodine Experimental Phase 3 94820-09-4
22 Protective Agents Phase 3
23 Fluorides Phase 3
24 Vasoconstrictor Agents Phase 3
25 Tin Fluorides Phase 3
26 Analgesics Phase 3
27 Antiemetics Phase 3
28 Antipyretics Phase 3
29 Pharmaceutical Solutions Phase 3
30 Chlorhexidine gluconate Phase 3
31 Anti-Infective Agents, Local Phase 3
32 Plasma Substitutes Phase 3
33 Blood Substitutes Phase 3
34 Disinfectants Phase 3
35
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
36
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
37
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
38
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
39
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
40
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
41
ofatumumab Approved Phase 2 679818-59-8 6918251
42
Hydroxyurea Approved Phase 2 127-07-1 3657
43
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
44
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
45
Molgramostim Investigational Phase 2 99283-10-0
46 Imatinib Mesylate Phase 2 220127-57-1 123596
47 Protein Kinase Inhibitors Phase 2
48 Hormone Antagonists Phase 1, Phase 2
49 glucocorticoids Phase 1, Phase 2
50 Methylprednisolone Acetate Phase 1, Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Combined Retinoic Acid,Arsenic Trioxide and Chemotherapy for Newly-diagnosed Acute Promyelocytic Leukemia: Chinese National Multi-center Randomized Study Active, not recruiting NCT01987297 Phase 4 ATRA+Arsenic;ATRA+Chemo
2 A Pilot Study to Evaluate a Procalcitonin-Based Algorithm for Duration of Antibiotic Therapy in Critically Ill Patients Completed NCT01572831 Phase 3
3 A Phase 3, Multicenter, Open-label, Randomized Study Comparing the Efficacy and Safety of AG-221 (CC-90007) Versus Conventional Care Regimens in Older Subjects With Late Stage Acute Myeloid Leukemia Harboring an Isocitrate Dehydrogenase 2 Mutation Active, not recruiting NCT02577406 Phase 3 AG-221;Azacitidine;Low-dose cytarabine (LDAC);Intermediate-dose cytarabine (IDAC)
4 Povidone-iodine vs. Chlorhexidine Gluconate - A Comparison of Surgical Preparations and Wound Infection Rates for Elective Cesarean Sections Terminated NCT00528008 Phase 3
5 A Pilot Study of the Safety and Efficacy of Imatinib in Reducing Monocytosis or Leukocytosis in Patients With Chronic Myelomonocytic Leukemia and Atypical Chronic Myelogenous Leukemia, Respectively Completed NCT00079313 Phase 2 Imatinib
6 A Double-blind, Placebo Controlled, Randomized, Cross-over, Phase IIa Study to Evaluate the Effect of Bimosiamose on Ozone Induced Sputum Neutrophilia in Healthy Subjects Completed NCT00962481 Phase 2 Bimosiamose;Placebo
7 Double Blind, Placebo Controlled, Parallel Group Study With an Open Label Reference Arm to Assess the Effects of Intravenously Administered AIN457 on Ozone Induced Neutrophilia Compared to Placebo & Oral Corticosteroid in Healthy Volunteers Completed NCT00920933 Phase 1, Phase 2 prednisolone
8 Pilot Phase 2 Trial of the Safety & Efficacy of Granulocyte-Macrophage Colony-Stimulating Factor (Leukine®) in the Treatment of Alzheimer's Disease Completed NCT01409915 Phase 2 Sagramostim;Saline -- placebo comparator
9 Ofatumumab With or Without Bendamustine for Patients With Mantle Cell Lymphoma Ineligible for Autologous Stem Cell Transplant Active, not recruiting NCT01437709 Phase 2
10 A Phase II, Single-Arm, Open-Label Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Idasanutlin Monotherapy in Patients With Hydroxyurea-Resistant/Intolerant Polycythemia Vera Terminated NCT03287245 Phase 2 Idasanutlin
11 Single-center Open Randomized Clinical Trial to Evaluate Pharmacokinetics, Pharmacodynamics and Safety of Leucostim® (JSC "BIOCAD", Russia) Compared to Neupogen® (F. Hoffman-La Roche Ltd., Switzerland) Completed NCT02762799 Phase 1
12 Randomized, Double-Blind, Multiple-Dose, Placebo-Controlled, Incomplete Crossover, Two-Part Study to Evaluate the Dose Response of SCH 527123 on Sputum Neutrophilia Following Ozone Challenge in Healthy Subjects and COPD Patients Terminated NCT01068145 Phase 1 SCH 527123;SCH 527123;SCH 527123;SCH 527123;Placebo;SCH 527123;SCH 527123;SCH 527123;Placebo
13 Early Diagnosis of Anastomotic Leakage After Colorectal Surgery: a Prospective Observational Validation Study of the Dutch Leakage Score, Serum Procalcitonin and Serum CRP: the Italian ColoRectal Anastomotic Leakage (iCRAL) Study Group. Unknown status NCT03560180
14 A Pilot Study to Assess the Safety and Efficacy of Mozobil ± G-CSF in Mobilizing Hematopoietic Stem Cells (CD34+ Cells) in Adults With Beta-thalassemia Major Completed NCT01206075 Mozobil;Mozobil;Mozobil
15 Multicenter, Retrospective Data Collection of Routine Clinical Use With the Spectra Optia® Apheresis System for White Blood Cell Depletion Completed NCT02302365
16 Preliminary Testing of the Vitaliti CVSM Wearable, Vitaliti Spirotoscope, and Vitaliti IVD Station Completed NCT02856633
17 The Effect of Placenta Removal Method On Postpartum Leucocytosis : A Randomized Controlled Trial Completed NCT04323241
18 A Pilot Study to Assess the Safety and Efficacy of G-CSF Mobilization With and Without Hydroxyurea Pretreatment in Adults With Beta Thalassemia Major Completed NCT00336362 Hydroxyurea
19 Impact of Bulletproof Coffee on Metabolism, Inflammation and Cognitive Function Recruiting NCT04307979

Search NIH Clinical Center for Neutrophilia, Hereditary

Inferred drug relations via UMLS 70 / NDF-RT 51 :


hydroxyurea

Cochrane evidence based reviews: leukocytosis

Sources

Genetic Tests for Neutrophilia, Hereditary

About this section

Genetic tests related to Neutrophilia, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Neutrophilia 29
Sources

Anatomical Context for Neutrophilia, Hereditary

About this section

MalaCards organs/tissues related to Neutrophilia, Hereditary:

40
Neutrophil, Lung, Myeloid, Liver, Placenta, Thyroid, Brain
Sources

Publications for Neutrophilia, Hereditary

About this section

Articles related to Neutrophilia, Hereditary:

(show top 50) (show all 281)
# Title Authors PMID Year
1
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. 61 57 6
19620628 2009
2
Hereditary neutrophilia. 61 57
4825608 1974
3
An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia. 6
12203110 2002
4
Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. 47
18278031 2008
5
Hereditary erythrocytosis, thrombocytosis and neutrophilia. 61
25189721 2014
6
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. 61
23604229 2013
7
Time course of changes in performance and inflammatory responses after acute plyometric exercise. 54
20386477 2010
8
A case of granulocyte-colony stimulating factor-producing hepatocellular carcinoma confirmed by immunohistochemistry. 54
20191051 2010
9
Clinical characteristics of post-neurosurgical Klebsiella pneumoniae meningitis in adults and a clinical comparison to the spontaneous form in a Taiwanese population. 54
20093030 2010
10
Urinary macrophage migration inhibitory factor in children with urinary tract infection. 54
19841948 2010
11
Selective mobilization of cytotoxic leukocytes by epinephrine. 54
19949113 2010
12
[A case of severe leptospirosis infection (Weil's disease) in Tokyo]. 54
20170016 2010
13
Fecal calprotectin correlates more closely with the Simple Endoscopic Score for Crohn's disease (SES-CD) than CRP, blood leukocytes, and the CDAI. 54
19755969 2010
14
Thymic squamous cell carcinoma producing granulocyte colony-stimulating factor associated with a high serum level of interleukin 6. 54
19967491 2009
15
C-reactive protein in bronchoalveolar lavage fluid is associated with markers of airway inflammation after lung transplantation. 54
19857759 2009
16
Etiology and outcome of extreme leukocytosis in 758 nonhematologic cancer patients: a retrospective, single-institution study. 54
19551882 2009
17
[Two cases of pleomorphic carcinoma with severe systemic inflammation]. 54
19764522 2009
18
A relapse of systemic type juvenile idiopathic arthritis after a rubella vaccination in a patient during a long-term remission period. 54
19576941 2009
19
[Complication after subacute cervical lymphadenitis]. 54
19618128 2009
20
[Calcyphylaxis in a patient with end-stage renal disease in the course of systemic lupus erythematosus, diagnostic problems--case report]. 54
19856878 2009
21
Increased preoperative white blood cell count predicts postoperative atrial fibrillation after coronary artery bypass surgery. 54
19362015 2009
22
Adult onset Stills disease in a tertiary care hospital of Pakistan. 54
19579736 2009
23
The difference in clinical characteristics between acute Q fever and scrub typhus in southern Taiwan. 54
18977677 2009
24
Proinflammatory cytokines in response to insulin-induced hypoglycemic stress in healthy subjects. 54
19303962 2009
25
[Two cases of granulocyte-colony stimulating factor-producing infiltrating urothelial carcinoma of the kidney]. 54
19462829 2009
26
Aneurysms of the renal arteries associated with segmental arterial mediolysis in a case of polyarteritis nodosa. 54
19261100 2009
27
[A case of lung cancer producing granulocyte colony-stimulating factor with a significantly high uptake in the bones observed by a FDG-PET scan]. 54
19348277 2009
28
[Case of phlegmonous esophagogastritis associated with hypopharyngeal abscess]. 54
19262050 2009
29
Neutrophil function and cytokine-specific signaling in chronic neutrophilic leukemia. 54
18241214 2009
30
High procalcitonin in a patient with drug hypersensitivity syndrome. 54
19687601 2009
31
Granulocyte-colony stimulating factor-producing pancreatic adenosquamous carcinoma showing aggressive clinical course. 54
19420814 2009
32
CXCR4 antagonists: targeting the microenvironment in leukemia and other cancers. 54
18987663 2009
33
Elevated granulocyte colony-stimulating factor, non-infectious leukocytosis and fevers in a patient with multiple myeloma. 54
18810556 2008
34
[Urinary bladder cancer producing granulocyte-colony stimulating factor: a case report and review of the literature]. 54
19175000 2008
35
[Therapy of acute promyelocytic leukemia in Czechia: results and analysis of prognostic factors]. 54
18780575 2008
36
Alterations of peripheral leukocyte count, erythrocyte sedimentation rate, and C-reactive protein in febrile urinary tract infection. 54
19377227 2008
37
Abdominal compartment syndrome: a situation thet needs to be better known. 54
18709776 2008
38
[Frequency and epidemiology of primary epiploic appendagitis on CT in adults with abdominal pain]. 54
18354354 2008
39
Clinical usefulness of serum C-reactive protein in living donor liver transplantation. 54
18507099 2008
40
Primary pulmonary squamous cell carcinoma associated with elevated IL-6, leukocytosis, hypercalcemia, phagocytosis, reactive lymphadenopathy and glomerular mesangial cell proliferation via the production of PTH-rP and G-CSF. 54
18277029 2008
41
C-reactive protein levels in patients with chronic obstructive pulmonary disease: role of infection. 54
18408388 2008
42
Mushroom poisoning. 54
18217466 2007
43
[T lymphocyte immunophenotype as a diagnostic marker of late-onset neonatal sepsis]. 54
18053517 2007
44
Dedifferentiated liposarcoma with leukocytosis. A case report of G-CSF-producing soft-tissue tumors, possible association with undifferentiated liposarcoma lineage. 54
18021394 2007
45
Exercise-induced alterations in pro-inflammatory cytokines and prostaglandin F2alpha in horses. 54
17617470 2007
46
Erythema nodosum: an evaluation of 100 cases. 54
17888212 2007
47
Multiple-dose escalation study of the safety, pharmacokinetics, and biologic activity of oral AMD070, a selective CXCR4 receptor inhibitor, in human subjects. 54
17452489 2007
48
A case of squamous cell carcinoma of the head and neck producing granulocyte-colony stimulating factor with marked leukocytosis. 54
17097253 2007
49
Predictive value of clinical and laboratory variables for vesicoureteral reflux in children. 54
17273861 2007
50
Evaluation of diagnostic findings and scoring systems in outcome prediction in acute pancreatitis. 54
17589925 2007
Sources

Variations for Neutrophilia, Hereditary

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ClinVar genetic disease variations for Neutrophilia, Hereditary:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSF3R NM_000760.4(CSF3R):c.1919C>A (p.Thr640Asn) SNV Pathogenic 16005 rs121918426 GRCh37: 1:36933198-36933198
GRCh38: 1:36467597-36467597

UniProtKB/Swiss-Prot genetic disease variations for Neutrophilia, Hereditary:

72
# Symbol AA change Variation ID SNP ID
1 CSF3R p.Thr640Asn VAR_063065 rs121918426

Sources

Expression for Neutrophilia, Hereditary

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Search GEO for disease gene expression data for Neutrophilia, Hereditary.
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Pathways for Neutrophilia, Hereditary

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Pathways related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.83 MPO JAK2 IL6 IL3 FLT3 CSF3R
2
PEDF Induced Signaling 63
Show member pathways
 13.48 JAK2 IL6 IL3 FLT3 CSF3R CSF3
3
Akt Signaling 63
Show member pathways
 13.19 JAK2 IL6 IL3 FLT3 CSF3R CSF3
4
PAK Pathway 63
Show member pathways
 13.12 JAK2 IL6 IL3 CSF3R CSF3 CSF2
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.11 JAK2 IL6 IL3 FLT3 CSF3R CSF3
6
PI3K-Akt signaling pathway 36
Show member pathways
 12.75 JAK2 IL6 IL3 FLT3 CSF3R CSF3
7
Pathways in cancer 36
12.66 JAK2 IL6 IL3 FLT3 CSF3R
8
IL-17 Family Signaling Pathways 64
Show member pathways
 12.15 JAK2 IL6 CSF3 CSF2
9
JAK-STAT signaling pathway 36
Show member pathways
 12.13 JAK2 IL6 IL3 CSF3R CSF3 CSF2
10
Transcriptional misregulation in cancer 36
12.05 MPO IL6 IL3 FLT3 CSF2
11
IL-6 signaling pathway 1
Show member pathways
 11.68 JAK2 IL6 CRP
12
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.67 JAK2 IL6 CSF3 CSF2
13
Dendritic Cells Developmental Lineage Pathway 64
11.6 IL6 FLT3 CSF2
14
Lung fibrosis 1
11.5 IL6 CSF3 CSF2
15
Hematopoietic cell lineage 36
11.43 IL6 IL3 FLT3 CSF3R CSF3 CSF2
16
Interleukin-10 signaling 65
11.34 IL6 CSF3 CSF2
17
Hematopoietic Stem Cell Differentiation 1
11.3 IL6 IL3 CSF3 CSF2
18
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.23 MPO IL6 IL3 FLT3 CSF3R CSF3
19
Cytokines and Inflammatory Response 1
10.92 IL6 IL3 CSF3 CSF2
20
Overview of nanoparticle effects 1
10.87 IL6 CRP
21
G-protein signaling_Rap2B regulation pathway 23
10.85 IL6 IL3 FLT3 CSF3 CSF2
Sources

GO Terms for Neutrophilia, Hereditary

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Cellular components related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 PTHLH MPO IL6 IL3 CSF3R CSF3
2 extracellular space GO:0005615 9.23 PTHLH MPO MIR223 IL6 IL3 CSF3

Biological processes related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.7 PTHLH JAK2 IL6 IL3 FLT3 CSF3
2 MAPK cascade GO:0000165 9.67 JAK2 IL3 FLT3 CSF2
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.63 JAK2 IL6 CSF3
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 JAK2 FLT3 CSF3
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.56 JAK2 IL6 IL3 CSF3
6 interleukin-6-mediated signaling pathway GO:0070102 9.49 JAK2 IL6
7 dendritic cell differentiation GO:0097028 9.48 FLT3 CSF2
8 regulation of myeloid cell differentiation GO:0045637 9.43 CSF3R CSF2
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.35 JAK2 IL6 IL3 FLT3 CSF2
10 negative regulation of lipid storage GO:0010888 9.32 IL6 CRP
11 cytokine-mediated signaling pathway GO:0019221 9.17 JAK2 IL6 IL3 FLT3 CSF3R CSF3

Molecular functions related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 IL6 IL3 CSF3 CSF2
2 peptide hormone receptor binding GO:0051428 9.16 PTHLH JAK2
3 growth factor activity GO:0008083 8.92 IL6 IL3 CSF3 CSF2
Sources

Sources for Neutrophilia, Hereditary

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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