NEUTROPHILIA
MCID: NTR018
MIFTS: 44

Neutrophilia, Hereditary (NEUTROPHILIA)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Neutrophilia, Hereditary

MalaCards integrated aliases for Neutrophilia, Hereditary:

Name: Neutrophilia, Hereditary 58 13 45 41 74
Hereditary Neutrophilia 12 60 76 30 6 15
Neutrophilia 76 74
Leukocytosis 45 74

Characteristics:

Orphanet epidemiological data:

60
hereditary neutrophilia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
neutrophilia, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0090120
OMIM 58 162830
ICD10 via Orphanet 35 D72.8
UMLS via Orphanet 75 C0543669
Orphanet 60 ORPHA279943
MedGen 43 C0543669

Summaries for Neutrophilia, Hereditary

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 CSF3R gene on chromosome 1p34.

MalaCards based summary : Neutrophilia, Hereditary, also known as hereditary neutrophilia, is related to atypical chronic myeloid leukemia and paraneoplastic syndromes, 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 Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include neutrophil, myeloid and thyroid, and related phenotypes are thickened calvaria and myelodysplasia

UniProtKB/Swiss-Prot : 76 Hereditary neutrophilia: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.

Description from OMIM: 162830

Related Diseases for Neutrophilia, Hereditary

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

(show top 50) (show all 345)
# Related Disease Score Top Affiliating Genes
1 atypical chronic myeloid leukemia 31.9 CSF3R JAK2
2 paraneoplastic syndromes 30.2 IL6 PTHLH
3 acute promyelocytic leukemia 30.2 CSF3R FLT3 MIR223
4 appendicitis 29.9 CRP IL6
5 myelofibrosis 29.7 FLT3 JAK2 MIR223
6 relapsing polychondritis 29.7 CRP IL6
7 leptospirosis 29.6 CRP IL6
8 leukemia 29.6 CSF2 CSF3R FLT3 JAK2
9 myeloid leukemia 29.5 CSF2 CSF3R FLT3 JAK2
10 pericardial effusion 29.5 CRP IL6
11 preterm premature rupture of the membranes 29.5 CRP IL6
12 thrombocytosis 29.3 CRP CSF2 IL6 JAK2
13 myelodysplastic myeloproliferative cancer 29.3 CSF2 CSF3R JAK2
14 typhoid fever 29.3 CRP IL6
15 ileitis 29.3 CSF2 IL6
16 bacterial infectious disease 29.2 CRP CSF2 IL6
17 leukemia, chronic myeloid 29.2 CSF2 CSF3R FLT3 JAK2 MIR223
18 myelodysplastic syndrome 29.1 CSF2 CSF3R FLT3 JAK2
19 renal cell carcinoma, nonpapillary 29.0 CSF2 FLT3 PTHLH
20 myeloma, multiple 29.0 CRP CSF2 IL6 JAK2
21 chronic myelomonocytic leukemia 28.9 CSF2 CSF3R FLT3 JAK2
22 leukemia, acute myeloid 28.8 CSF2 CSF3R FLT3 JAK2 MIR223
23 bone marrow cancer 28.6 CSF2 CSF3R FLT3 IL6 JAK2
24 chronic neutrophilic leukemia 11.4
25 ivic syndrome 11.1
26 histiocytosis-lymphadenopathy plus syndrome 11.1
27 leukocyte adhesion deficiency, type iii 11.1
28 neutrophil immunodeficiency syndrome 11.1
29 autoinflammation, panniculitis, and dermatosis syndrome 11.1
30 myeloproliferative syndrome, transient 11.0
31 persistent polyclonal b-cell lymphocytosis 11.0
32 psoriasis 14, pustular 11.0
33 psoriasis 15, pustular 11.0
34 pulmonary alveolar proteinosis with hypogammaglobulinemia 11.0
35 lemierre's syndrome 11.0
36 acute chest syndrome 11.0
37 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) 11.0
38 pneumonia 10.3
39 chronic leukemia 10.3 CSF3R JAK2
40 bronchiolitis 10.3
41 hypereosinophilic syndrome 10.3
42 subacute myeloid leukemia 10.3 FLT3 JAK2
43 lymphoid leukemia 10.2 FLT3 JAK2
44 bronchiolitis obliterans 10.2
45 lymphopenia 10.2
46 essential thrombocythemia 10.2
47 core binding factor acute myeloid leukemia 10.2 FLT3 JAK2
48 squamous cell carcinoma 10.2
49 asthma 10.2
50 fatal familial insomnia 10.2 CSF3R IL6

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



Diseases related to Neutrophilia, Hereditary

Symptoms & Phenotypes for Neutrophilia, Hereditary

Human phenotypes related to Neutrophilia, Hereditary:

33
# Description HPO Frequency HPO Source Accession
1 thickened calvaria 33 HP:0002684
2 myelodysplasia 33 HP:0002863
3 hepatosplenomegaly 33 HP:0001433
4 neutrophilia 33 HP:0011897
5 elevated leukocyte alkaline phosphatase 33 HP:0008318

Symptoms via clinical synopsis from OMIM:

58
Hematology:
neutrophilia
segmented neutrophils or band cells greater than 70%

Clinical features from OMIM:

162830

UMLS symptoms related to Neutrophilia, Hereditary:


muscle weakness, polydipsia

GenomeRNAi Phenotypes related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.72 FLT3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 BPGM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.72 CSF3R
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 FLT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.72 FLT3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.72 FLT3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.72 FLT3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.72 FLT3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 BPGM CSF3R FLT3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.72 CSF3R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.72 CSF3R
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.72 BPGM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.72 FLT3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 CSF3R
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 CSF3R
16 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.72 CSF3R
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 FLT3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.72 BPGM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 BPGM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.72 BPGM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.72 CSF3R
22 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.72 FLT3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.72 BPGM

MGI Mouse Phenotypes related to Neutrophilia, Hereditary:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 CSF2 FLT3 IL6 JAK2 PTHLH
2 immune system MP:0005387 9.5 CRP CSF2 CSF3R FLT3 IL6 JAK2
3 neoplasm MP:0002006 9.02 CSF2 FLT3 IL6 JAK2 PTHLH

Drugs & Therapeutics for Neutrophilia, Hereditary

Search Clinical Trials , NIH Clinical Center for Neutrophilia, Hereditary

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: leukocytosis

Genetic Tests for Neutrophilia, Hereditary

Genetic tests related to Neutrophilia, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Neutrophilia 30

Anatomical Context for Neutrophilia, Hereditary

MalaCards organs/tissues related to Neutrophilia, Hereditary:

42
Neutrophil, Myeloid, Thyroid, Brain, Heart, B Cells, Bone

Publications for Neutrophilia, Hereditary

Articles related to Neutrophilia, Hereditary:

# Title Authors Year
1
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. ( 19620628 )
2009
2
An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia. ( 12203110 )
2002
3
Hereditary neutrophilia. ( 4825608 )
1974

Variations for Neutrophilia, Hereditary

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

76
# Symbol AA change Variation ID SNP ID
1 CSF3R p.Thr640Asn VAR_063065 rs121918426

ClinVar genetic disease variations for Neutrophilia, Hereditary:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CSF3R NM_156039.3(CSF3R): c.1919C> A (p.Thr640Asn) single nucleotide variant Pathogenic rs121918426 GRCh37 Chromosome 1, 36933198: 36933198
2 CSF3R NM_156039.3(CSF3R): c.1919C> A (p.Thr640Asn) single nucleotide variant Pathogenic rs121918426 GRCh38 Chromosome 1, 36467597: 36467597

Expression for Neutrophilia, Hereditary

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

Pathways for Neutrophilia, Hereditary

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 CSF2 CSF3R FLT3 IL6 JAK2
2
Show member pathways
12.98 CSF2 CSF3R FLT3 IL6 JAK2
3
Show member pathways
12.68 CSF3R FLT3 IL6 JAK2
4 12.46 CSF3R FLT3 IL6 JAK2
5
Show member pathways
12.02 CSF2 IL6 JAK2
6
Show member pathways
11.92 CSF2 CSF3R IL6 JAK2
7 11.9 CSF2 FLT3 IL6
8 11.49 CSF3R IL6 JAK2
9
Show member pathways
11.47 CSF2 IL6 JAK2
10 11.32 CSF2 CSF3R FLT3 IL6
11 11.27 CSF2 IL6
12 11.26 CSF2 IL6
13 11.24 IL6 JAK2
14 11.2 CSF2 FLT3 IL6
15
Show member pathways
11.18 IL6 JAK2
16
Show member pathways
11 CRP JAK2
17 10.96 CSF2 IL6
18 10.91 CSF2 CSF3R FLT3 IL6
19 10.68 CRP IL6

GO Terms for Neutrophilia, Hereditary

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 gene expression GO:0010628 9.71 CRP CSF2 IL6 MIR223
2 MAPK cascade GO:0000165 9.65 CSF2 FLT3 JAK2
3 positive regulation of cell proliferation GO:0008284 9.55 CSF2 FLT3 IL6 JAK2 PTHLH
4 acute-phase response GO:0006953 9.49 CRP IL6
5 peptidyl-tyrosine phosphorylation GO:0018108 9.46 FLT3 JAK2
6 interleukin-6-mediated signaling pathway GO:0070102 9.43 IL6 JAK2
7 dendritic cell differentiation GO:0097028 9.37 CSF2 FLT3
8 cytokine-mediated signaling pathway GO:0019221 9.35 CSF2 CSF3R FLT3 IL6 JAK2
9 regulation of myeloid cell differentiation GO:0045637 9.32 CSF2 CSF3R
10 negative regulation of lipid storage GO:0010888 9.26 CRP IL6
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.92 CSF2 FLT3 IL6 JAK2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 9.16 CSF3R FLT3
2 protein tyrosine kinase activity GO:0004713 8.96 FLT3 JAK2
3 peptide hormone receptor binding GO:0051428 8.62 JAK2 PTHLH

Sources for Neutrophilia, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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