MCID: NTR018
MIFTS: 39

Neutrophilia, Hereditary

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Neutrophilia, Hereditary

MalaCards integrated aliases for Neutrophilia, Hereditary:

Name: Neutrophilia, Hereditary 57 13 40 73
Hereditary Neutrophilia 12 59 75 29 6
Neutrophilia 75 73
Leukocytosis 44 73

Characteristics:

Orphanet epidemiological data:

59
hereditary neutrophilia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neutrophilia, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 162830
Disease Ontology 12 DOID:0090120
ICD10 33 D72.8
Orphanet 59 ORPHA279943
UMLS via Orphanet 74 C0543669
ICD10 via Orphanet 34 D72.8
MedGen 42 C0543669
MeSH 44 D007964

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 leptospirosis and myeloma, multiple, and has symptoms including polydipsia and muscle weakness. 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, and related phenotypes are hepatosplenomegaly and thickened calvaria

UniProtKB/Swiss-Prot : 75 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 139)
# Related Disease Score Top Affiliating Genes
1 leptospirosis 29.9 CRP IL6
2 myeloma, multiple 29.0 CRP CSF2 IL6
3 thrombocytosis 28.6 CRP CSF2 IL6 JAK2
4 leukemia 28.5 CSF2 CSF3R FLT3 JAK2
5 chronic neutrophilic leukemia 11.2
6 neutrophil immunodeficiency syndrome 10.9
7 autoinflammation, panniculitis, and dermatosis syndrome 10.9
8 fatal familial insomnia 10.5 CSF3R IL6
9 cold agglutinin disease 10.4 CRP IL6
10 cryopyrin-associated periodic syndrome 10.4 CRP IL6
11 cardiogenic shock 10.4 CRP IL6
12 acute cholangitis 10.4 CRP IL6
13 atypical chronic myeloid leukemia 10.4 CSF3R JAK2
14 uremic pruritus 10.4 CRP IL6
15 spinal disease 10.4 CRP IL6
16 castleman disease 10.4 CRP IL6
17 angina pectoris 10.4 CRP IL6
18 viral pneumonia 10.4 CRP IL6
19 cecal disease 10.4 CRP IL6
20 relapsing polychondritis 10.4 CRP IL6
21 central nervous system vasculitis 10.4 CRP IL6
22 subacute thyroiditis 10.4 CRP IL6
23 intussusception 10.4 CRP IL6
24 louse-borne relapsing fever 10.4 CRP IL6
25 multicentric castleman disease 10.4 CRP IL6
26 hypersensitivity reaction type iii disease 10.4 CRP IL6
27 ischemic heart disease 10.4 CRP IL6
28 mesenteric lymphadenitis 10.4 CRP IL6
29 alexithymia 10.4 CRP IL6
30 intermittent explosive disorder 10.4 CRP IL6
31 idiopathic neutropenia 10.4 CSF3R IL6
32 intermediate coronary syndrome 10.4 CRP IL6
33 lymphoid leukemia 10.4 FLT3 JAK2
34 acute cystitis 10.4 CRP IL6
35 systolic heart failure 10.3 CRP IL6
36 polyarteritis nodosa 10.3 CRP IL6
37 prediabetes syndrome 10.3 CRP IL6
38 acute pyelonephritis 10.3 CRP IL6
39 apnea, obstructive sleep 10.3 CRP IL6
40 adult-onset still's disease 10.3 CRP IL6
41 perinatal necrotizing enterocolitis 10.3 CRP IL6
42 viral meningitis 10.3 CRP IL6
43 infective endocarditis 10.3 CRP IL6
44 core binding factor acute myeloid leukemia 10.3 FLT3 JAK2
45 hemorrhagic fever with renal syndrome 10.3 CRP IL6
46 lymph node disease 10.3 CRP IL6
47 exanthem 10.3 CRP IL6
48 uterine anomalies 10.3 CRP IL6
49 bladder disease 10.3 CRP IL6
50 ethmoid sinusitis 10.3 CRP CSF2

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



Diseases related to Neutrophilia, Hereditary

Symptoms & Phenotypes for Neutrophilia, Hereditary

Symptoms via clinical synopsis from OMIM:

57
Hematology:
neutrophilia
segmented neutrophils or band cells greater than 70%


Clinical features from OMIM:

162830

Human phenotypes related to Neutrophilia, Hereditary:

32
# Description HPO Frequency HPO Source Accession
1 hepatosplenomegaly 32 HP:0001433
2 thickened calvaria 32 HP:0002684
3 myelodysplasia 32 HP:0002863
4 elevated leukocyte alkaline phosphatase 32 HP:0008318
5 neutrophilia 32 HP:0011897

UMLS symptoms related to Neutrophilia, Hereditary:


polydipsia, muscle weakness

MGI Mouse Phenotypes related to Neutrophilia, Hereditary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.73 FLT3 IL6 JAK2 PTHLH CSF2 CSF3R
2 hematopoietic system MP:0005397 9.63 FLT3 IL6 JAK2 PTHLH CSF2 CSF3R
3 immune system MP:0005387 9.5 FLT3 IL6 JAK2 PTHLH CRP CSF2
4 neoplasm MP:0002006 8.92 FLT3 IL6 JAK2 CSF2

Drugs & Therapeutics for Neutrophilia, Hereditary

Search Clinical Trials , NIH Clinical Center for Neutrophilia, Hereditary

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: leukocytosis

Genetic Tests for Neutrophilia, Hereditary

Genetic tests related to Neutrophilia, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Neutrophilia 29 CSF3R

Anatomical Context for Neutrophilia, Hereditary

MalaCards organs/tissues related to Neutrophilia, Hereditary:

41
Neutrophil

Publications for Neutrophilia, Hereditary

Variations for Neutrophilia, Hereditary

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

75
# 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 CSF2 CSF3R FLT3 IL6 JAK2
2
Show member pathways
12.98 CSF2 CSF3R FLT3 IL6 JAK2
3
Show member pathways
12.65 CSF3R FLT3 IL6 JAK2
4 12.45 CSF3R FLT3 IL6 JAK2
5
Show member pathways
12.29 CSF2 IL6 JAK2
6
Show member pathways
12.05 CSF2 CSF3R IL6 JAK2
7
Show member pathways
12.04 CSF2 IL6 JAK2
8 11.94 CSF2 FLT3 IL6
9 11.52 CSF3R IL6 JAK2
10
Show member pathways
11.51 CSF2 IL6 JAK2
11
Show member pathways
11.43 CRP IL6 JAK2
12 11.32 CSF2 CSF3R FLT3 IL6
13 11.3 CSF2 FLT3 IL6
14 11.28 CSF2 IL6
15 11.27 CSF2 IL6
16 11.25 IL6 JAK2
17
Show member pathways
11.19 IL6 JAK2
18 11.03 CSF2 IL6
19
Show member pathways
11.02 CRP JAK2
20 10.91 CSF2 CSF3R FLT3 IL6
21 10.74 CRP IL6

GO Terms for Neutrophilia, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.02 CRP CSF2 IL6 MIR223 PTHLH

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

# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.63 CSF2 FLT3 JAK2
2 positive regulation of gene expression GO:0010628 9.62 CRP CSF2 IL6 MIR223
3 positive regulation of cell proliferation GO:0008284 9.55 CSF2 FLT3 IL6 JAK2 PTHLH
4 acute-phase response GO:0006953 9.48 CRP IL6
5 interleukin-6-mediated signaling pathway GO:0070102 9.43 IL6 JAK2
6 dendritic cell differentiation GO:0097028 9.4 CSF2 FLT3
7 regulation of myeloid cell differentiation GO:0045637 9.37 CSF2 CSF3R
8 cytokine-mediated signaling pathway GO:0019221 9.35 CSF2 CSF3R FLT3 IL6 JAK2
9 negative regulation of lipid storage GO:0010888 9.26 CRP IL6
10 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 9.13 CSF2 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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