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NEUTROPHILIA
MCID: NTR018
MIFTS: 54

Neutrophilia, Hereditary (NEUTROPHILIA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Neutrophilia, Hereditary

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MalaCards integrated aliases for Neutrophilia, Hereditary:

Name: Neutrophilia, Hereditary 57 12 43 38 71
Hereditary Neutrophilia 11 58 73 28 5 14
Neutrophilia 73 71 33
Disorders with Increased Neutrophil Counts 33
Leukocytosis 71

Characteristics:


Inheritance:

Neutrophilia, Hereditary: Autosomal dominant 57
Hereditary Neutrophilia: Autosomal dominant 58

Prevelance:

Hereditary Neutrophilia: <1/1000000 (Worldwide) 58

Age Of Onset:

Hereditary Neutrophilia: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
most patients clinically asymptomatic
myelodysplastic syndrome developed in 1 of 12 mutation-positive patients


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:0090120
OMIM® 57 162830
SNOMED-CT 68 129639005
ICD10 via Orphanet 32 D72.8
UMLS via Orphanet 72 C0543669
Orphanet 58 ORPHA279943
MedGen 40 C0543669
UMLS 71 C0023518 C0543669 C3665444
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Summaries for Neutrophilia, Hereditary

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Orphanet: 58 A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.

MalaCards based summary: Neutrophilia, Hereditary, also known as hereditary neutrophilia, is related to chronic neutrophilic leukemia and myeloid and lymphoid neoplasms associated with pdgfra rearrangement, 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 ERK Signaling. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone marrow and bone, and related phenotypes are thickened calvaria and myelodysplasia

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 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
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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 541)
# Related Disease Score Top Affiliating Genes
1 chronic neutrophilic leukemia 31.6 U2AF1 LUC7L2 JAK2 CSF3R CSF3
2 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 31.6 JAK2 CSF2
3 neutrophilic dermatosis, acute febrile 31.2 U2AF1 MPO CSF3 CRP
4 bronchiolitis obliterans 30.3 MPO IL6 CRP
5 bronchiolitis 30.3 IL6 CSF2 CRP
6 pneumocystosis 30.3 IL6 CSF3 CRP
7 hypereosinophilic syndrome 30.1 MPO JAK2 IL3 CSF2
8 polycythemia 30.0 JAK2 IL3 CRP
9 adult respiratory distress syndrome 30.0 MPO IL6 CRP
10 bronchitis 30.0 MPO IL6 CRP
11 proteasome-associated autoinflammatory syndrome 1 29.9 MPO IL6 CRP
12 pulmonary disease, chronic obstructive 29.9 MPO MIR223 IL6 CRP
13 viral pneumonia 29.9 IL6 CSF3 CRP
14 peritonitis 29.8 MPO IL6 CSF3 CRP
15 vasculitis 29.8 MPO IL6 CRP
16 acute interstitial pneumonia 29.8 IL6 CRP
17 acquired immunodeficiency syndrome 29.8 IL6 CSF2 CRP
18 common cold 29.7 IL6 CSF2 CRP
19 mastocytosis 29.7 JAK2 IL3 FLT3
20 bronchopneumonia 29.7 MPO IL6 CRP
21 plasma cell neoplasm 29.7 U2AF1 IL6 FLT3
22 pyelonephritis 29.6 IL6 CSF3 CRP
23 brain edema 29.6 IL6 CSF3 CRP
24 sickle cell anemia 29.6 IL6 CSF3 CRP
25 nonspecific interstitial pneumonia 29.5 MPO CRP
26 severe covid-19 29.5 IL6 CSF3 CSF2 CRP
27 urticaria 29.5 IL6 IL3 CRP
28 atypical chronic myeloid leukemia, bcr-abl1 negative 29.5 U2AF1 LUC7L2 JAK2 FLT3 CSF3R
29 aspergillosis 29.4 IL6 CSF3 CSF2
30 interstitial lung disease 29.4 MIR223 IL6 CSF2 CRP
31 candidiasis 29.4 IL6 CSF3 CSF2
32 chlamydia 29.3 IL6 CSF2 CRP
33 respiratory failure 29.3 MPO IL6 CSF3 CSF2 CRP
34 pneumonia 29.3 MPO MIR223 IL6 CSF3 CSF2 CRP
35 asthma 29.3 MPO MIR223 IL6 IL3 CSF2 CRP
36 paraneoplastic syndromes 29.3 PTHLH IL6 CSF3
37 appendicitis 29.2 MPO IL6 CSF3 CRP
38 myocardial infarction 29.2 MPO MIR223 JAK2 IL6 CSF3 CRP
39 lymphoma, hodgkin, classic 29.2 JAK2 IL3 CSF3 CSF2
40 bacterial pneumonia 29.2 MPO IL6 CSF3 CSF2 CRP
41 t-cell acute lymphoblastic leukemia 29.2 U2AF1 PTHLH MIR223 IL3
42 leukemia, acute monocytic 29.2 U2AF1 MPO IL6 FLT3
43 severe combined immunodeficiency 29.2 IL6 IL3 FLT3 CSF3 CSF2
44 chorioamnionitis 29.2 MIR223 IL6 CSF2 CRP
45 bacterial sepsis 29.2 IL6 CSF3 CSF2 CRP
46 hemophagocytic lymphohistiocytosis 29.1 U2AF1 IL6 CSF3 CSF2 CRP
47 granulocytopenia 29.1 MPO IL3 CSF3 CSF2
48 thrombocytosis 29.0 U2AF1 JAK2 IL6 IL3 CSF3 CSF2
49 interstitial lung disease 2 28.9 MPO IL6 CSF2 CRP
50 cystic fibrosis 28.8 MPO IL6 CSF3 CSF2 CRP

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



Diseases related to Neutrophilia, Hereditary
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Symptoms & Phenotypes for Neutrophilia, Hereditary

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Human phenotypes related to Neutrophilia, Hereditary:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thickened calvaria 30 HP:0002684
2 myelodysplasia 30 HP:0002863
3 hepatosplenomegaly 30 HP:0001433
4 neutrophilia 30 HP:0011897
5 elevated leukocyte alkaline phosphatase 30 HP:0008318

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
neutrophilia
segmented neutrophils or band cells greater than 70%

Clinical features from OMIM®:

162830 (Updated 08-Dec-2022)

UMLS symptoms related to Neutrophilia, Hereditary:


muscle weakness; polydipsia

MGI Mouse Phenotypes related to Neutrophilia, Hereditary:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.73 CRP CSF2 CSF3 CSF3R FLT3 IL3
2 neoplasm MP:0002006 9.7 CSF2 FLT3 IL3 IL6 JAK2 PTHLH
3 hematopoietic system MP:0005397 9.4 CSF2 CSF3 CSF3R FLT3 IL3 IL6
Sources

Drugs & Therapeutics for Neutrophilia, Hereditary

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
2
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
3
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
4
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
5
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
6
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
7
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7 4897
8 Antineoplastic Agents, Hormonal Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10 Hormone Antagonists Phase 1, Phase 2
11 glucocorticoids Phase 1, Phase 2
12 Anti-Inflammatory Agents Phase 1, Phase 2
13
Methylprednisolone Acetate Phase 1, Phase 2 584547
14
Imatinib Mesylate Phase 2 220127-57-1
15 Protein Kinase Inhibitors Phase 2
16
Lenograstim Approved, Investigational Phase 1 135968-09-1
17 Adjuvants, Immunologic Phase 1
18 Immunologic Factors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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;Placebo
6 Impact of Bulletproof Coffee on Metabolism, Inflammation and Cognitive Function Unknown status NCT04307979
7 Multicenter, Retrospective Data Collection of Routine Clinical Use With the Spectra Optia® Apheresis System for White Blood Cell Depletion Completed NCT02302365
8 Preliminary Testing of the Vitaliti CVSM Wearable, Vitaliti Spirotoscope, and Vitaliti IVD Station Completed NCT02856633
9 The Effect of Placenta Removal Method On Postpartum Leucocytosis : A Randomized Controlled Trial Completed NCT04323241

Search NIH Clinical Center for Neutrophilia, Hereditary

Inferred drug relations via UMLS 71 / NDF-RT 50 :


hydroxyurea

Cochrane evidence based reviews: neutrophilia, hereditary

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Genetic Tests for Neutrophilia, Hereditary

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Genetic tests related to Neutrophilia, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Neutrophilia 28 CSF3R
Sources

Anatomical Context for Neutrophilia, Hereditary

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Organs/tissues related to Neutrophilia, Hereditary:

MalaCards : Neutrophil, Bone Marrow, Bone, Lung, Myeloid, Placenta, T Cells
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Publications for Neutrophilia, Hereditary

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Articles related to Neutrophilia, Hereditary:

(show top 50) (show all 4621)
# Title Authors PMID Year
1
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. 62 57 5
19620628 2009
2
Hereditary neutrophilia. 62 57
4825608 1974
3
An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia. 5
12203110 2002
4
C-reactive protein in bronchoalveolar lavage fluid is associated with markers of airway inflammation after lung transplantation. 53 62
19857759 2009
5
Alterations of peripheral leukocyte count, erythrocyte sedimentation rate, and C-reactive protein in febrile urinary tract infection. 53 62
19377227 2008
6
Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. 46
18278031 2008
7
[Blood cytokine levels as a clinical laboratory test]. 53 62
17441472 2007
8
Leukocytosis in obese individuals: possible link in patients with unexplained persistent neutrophilia. 53 62
16696775 2006
9
Renal cell carcinoma producing granulocyte colony-stimulating factor. 53 62
16638652 2006
10
Delayed leukocytosis and cytokine response to high-force eccentric exercise. 53 62
16286856 2005
11
Nicotine induces human neutrophils to produce IL-8 through the generation of peroxynitrite and subsequent activation of NF-kappaB. 53 62
12960242 2003
12
Interleukin-6 induces demargination of intravascular neutrophils and shortens their transit in marrow. 53 62
11087252 2000
13
A 12-year-old boy with fatal hemolytic-uremic-syndrome, excessive neutrophilia and elevated endogenous granulocyte-colony-stimulating-factor serum concentrations. 53 62
9710348 1998
14
Neutrophilia of infection/inflammation: are we really dealing with "inflamed" leukocytes? 53 62
9865459 1998
15
The production of colony-stimulating factors by thyroid carcinoma is associated with marked neutrophilia and eosinophilia. 53 62
8933194 1996
16
Anaplastic thyroid carcinoma with prominent cardiac metastasis, accompanied by a marked leukocytosis with a neutrophilia and high GM-CSF level in serum. 53 62
1421718 1992
17
Modulation of neonatal rat myeloid kinetics resulting in peripheral neutrophilia by single pulse administration of Rh granulocyte-macrophage colony-stimulating factor and Rh granulocyte colony-stimulating factor. 53 62
1707685 1991
18
Cellular and morphological changes in lymphoid organs after a single injection of interleukin 1 alpha in the mouse. 53 62
2085144 1990
19
[Studies on the pathophysiology of paraneoplastic syndromes: both cancer cells and host immune cells are responsible for the pathophysiology of leukocytosis associated with oral cancer]. 53 62
1725787 1990
20
Successful treatment of canine infective endocarditis caused by Bacillus amyloliquefaciens. 62
35068361 2022
21
Assessment toxic effects of exposure to 3-indoleacetic acid via hemato-biochemical, hormonal, and histopathological screening in rats. 62
35876993 2022
22
Wogonin attenuates neutrophilic inflammation and airway smooth muscle proliferation through inducing caspase-dependent apoptosis and inhibiting MAPK/Akt signaling in allergic airways. 62
36371864 2022
23
Histopathological, physiological and biochemical assessment of resveratrol nanocapsules efficacy in bleomycin-induced acute and chronic lung injury in rats. 62
35945895 2022
24
New evidence for dietary fatty acids in the neutrophil traffic between the bone marrow and the peripheral blood. 62
36111060 2022
25
Clinical Diagnosis and Therapeutic Management of Trypanosoma theileri Infection Associated with Peritonitis in Crossbred Cow: A Rare Case Report. 62
35951220 2022
26
Vismodegib, a sonic hedgehog signalling blockade, ameliorates ovalbumin and ovalbumin/lipopolysaccharide-induced airway inflammation and asthma phenotypical models. 62
36306870 2022
27
Pseudomonas aeruginosa adaptation in cystic fibrosis patients increases C5a levels and promotes neutrophil recruitment. 62
35094639 2022
28
Derivation and validation of adult Still Activity Score (SAS). 62
36423781 2022
29
Neutrophils Play an Important Role in the Recurrence of Chronic Rhinosinusitis with Nasal Polyps. 62
36428479 2022
30
Impact of topical emollient, steroids alone or combined with calcipotriol, on the immune infiltrate and clinical outcome in psoriasis. 62
36054319 2022
31
Immune Monitoring of Paediatric Patients Infected with Rickettsia rickettsii, Ehrlichia canis and Coinfected. 62
36422602 2022
32
Impact of radiotherapy schedule on survival of patients treated with immune-checkpoint inhibitors for advanced melanoma and non-small cell lung cancer. 62
35927166 2022
33
Successful drainage of periaortic graft abscess and transcatheter aortic valve replacement in the same setting-A hybrid approach. 62
36116057 2022
34
A striking presentation of pustular Sweet syndrome induced by trimethoprim-sulfamethoxazole. 62
35866718 2022
35
Theileria equi in the horses of Iran: Molecular detection, genetic diversity, and hematological findings. 62
36436901 2022
36
Sputum Inflammatory Patterns are Associated with Distinct Clinical Characteristics in Subjects with Occupational Asthma Independently from the Causal Agent. 62
36377541 2022
37
Protein kinase D3 promotes neutrophil migration during viral infection. 62
36318273 2022
38
Spirocercosis and Parvovirus in an Imported Dog: Implications for Biosecurity and Foreign Infectious Disease Risk. 62
36371066 2022
39
Recent Update in Food Protein-Induced Enterocolitis Syndrome: Pathophysiology, Diagnosis, and Management. 62
36426394 2022
40
Protective Effect of Lactobacillus sporogenes against Arsenic-Induced Hematological Alterations in Male Albino Wistar Rats. 62
34993908 2022
41
Clinicopathologic and immunophenotypic features in dogs with presumptive large granular lymphocyte leukaemia. 62
36328541 2022
42
Assessment and outcome of hospitalized patients during delta variant COVID-19 pandemic: A multicenter international study. 62
36449643 2022
43
Pot-bellied Vietnamese pig with visceral mast cell tumors and mastocytemia. 62
36336840 2022
44
Many faces of SF3B1-mutated myeloid neoplasms: concurrent mutational profiles contribute to the diverse clinical and morphologic features. 62
36087739 2022
45
Adipose-derived mesenchymal stem cells suppress ozone-mediated airway inflammation in a mouse model of chronic obstructive pulmonary disease. 62
36113365 2022
46
Transcriptional reprogramming of infiltrating neutrophils drives lung disease in severe COVID-19 despite low viral load. 62
36399523 2022
47
Massive squamous cell carcinoma arising from hidradenitis suppurativa with marked hypercalcemia and neutrophilia. 62
36186407 2022
48
Macrophage PD-1 associates with neutrophilia and reduced bacterial killing in early cystic fibrosis airway disease. 62
35732550 2022
49
Cerebral Venous Sinus Thrombosis in a Patient With Alcohol Withdrawal Symptoms: A Case Report and Literature Review. 62
36449713 2022
50
Immunometabolic Analysis of Synovial Fluid from Juvenile Idiopathic Arthritis Patients. 62
36445361 2022
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Variations for Neutrophilia, Hereditary

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ClinVar genetic disease variations for Neutrophilia, Hereditary:

5
# 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:

73
# 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 23)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.7 CRP CSF2 CSF3 CSF3R FLT3 IL3
2
ERK Signaling 64
Show member pathways
 13.61 JAK2 IL6 IL3 FLT3 CSF3R CSF3
3
MIF Mediated Glucocorticoid Regulation 64
Show member pathways
 13.43 JAK2 IL6 IL3 FLT3 CSF3R CSF3
4
PAK Pathway 64
Show member pathways
 13.1 JAK2 IL6 IL3 CSF3R CSF3 CSF2
5
Akt Signaling 64
Show member pathways
 13.06 JAK2 IL6 IL3 FLT3 CSF3R CSF3
6
Cytokine Signaling in Immune system 66
Show member pathways
 12.95 CSF2 CSF3 CSF3R FLT3 IL3 IL6
7
PI3K-Akt signaling pathway 74
Show member pathways
 12.54 JAK2 IL6 IL3 FLT3 CSF3R CSF3
8
Malignant pleural mesothelioma 74
12.5 IL6 FLT3 CSF3 CSF2
9
IL-17 Family Signaling Pathways 65
Show member pathways
 12.05 JAK2 IL6 CSF3 CSF2
10
Clock-controlled autophagy in bone metabolism 74
11.65 IL3 IL6 JAK2
11
Dendritic Cells Developmental Lineage Pathway 65
11.59 IL6 FLT3 CSF2
12
IL3-mediated signaling events 61
Show member pathways
 11.56 JAK2 IL3 CSF2
13
Lung fibrosis 74
11.49 IL6 CSF3 CSF2
14
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.43 JAK2 IL6 CSF3 CSF2
15
Signaling by CSF3 (G-CSF) 66
Show member pathways
 11.39 JAK2 CSF3R CSF3
16
Interleukin-10 signaling 66
11.28 IL6 CSF3 CSF2
17
IL6-mediated signaling events 61
11.23 JAK2 IL6 CRP
18
Hematopoietic Stem Cells and Lineage-specific Markers 65
11.23 MPO IL6 IL3 FLT3 CSF3R CSF3
19
Other interleukin signaling 66
10.99 CSF3R CSF3
20
Overview of nanoparticle effects 74
10.88 IL6 CRP
21
ncRNAs involved in STAT3 signaling in hepatocellular carcinoma 74
10.85 JAK2 IL6
22
G-protein signaling_Rap2B regulation pathway 22
10.83 IL6 IL3 FLT3 CSF3 CSF2
23
Cytokines and inflammatory response 74
10.72 IL6 IL3 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 space GO:0005615 9.83 PTHLH MPO MIR223 IL6 IL3 CSF3
2 granulocyte macrophage colony-stimulating factor receptor complex GO:0030526 8.92 JAK2 CSF2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.09 CSF2 CSF3 IL3 IL6 JAK2
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.95 JAK2 FLT3 CSF3
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.92 JAK2 IL6 IL3 CSF3
4 cellular response to lipopolysaccharide GO:0071222 9.91 CSF2 CSF3 IL6 JAK2 MIR223
5 cytokine-mediated signaling pathway GO:0019221 9.85 JAK2 IL6 FLT3 CSF3R CSF3
6 positive regulation of platelet aggregation GO:1901731 9.8 JAK2 IL6
7 positive regulation of cell population proliferation GO:0008284 9.77 PTHLH JAK2 IL6 IL3 FLT3 CSF3
8 negative regulation of lipid storage GO:0010888 9.76 IL6 CRP
9 positive regulation of leukocyte proliferation GO:0070665 9.71 JAK2 CSF2
10 granulocyte-macrophage colony-stimulating factor signaling pathway GO:0038157 9.67 JAK2 CSF2
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.32 JAK2 IL6 IL3 FLT3 CSF2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.56 IL6 IL3 CSF3 CSF2
2 peptide hormone receptor binding GO:0051428 9.46 PTHLH JAK2
3 growth factor activity GO:0008083 9.23 IL6 IL3 CSF3 CSF2
Sources

Sources for Neutrophilia, Hereditary

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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