Neutrophilia, Hereditary disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Other disorders of white blood cells

Other specified disorders of white blood cells

Orphanet: ⁶⁰

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0090120

OMIM ⁵⁸ 162830

MeSH ⁴⁵ C563010 D007964

ICD10 via Orphanet ³⁵ D72.8

UMLS via Orphanet ⁷⁵ C0543669

Orphanet ⁶⁰ ORPHA279943

MedGen ⁴³ C0543669

SNOMED-CT via HPO ⁷⁰ 109995007 128623006 188736006 more

UMLS ⁷⁴ C0023518 C0543669 C3665444

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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, 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

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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 331)

#	Related Disease	Score	Top Affiliating Genes
1	atypical chronic myeloid leukemia	31.9	JAK2 CSF3R
2	paraneoplastic syndromes	30.2	PTHLH IL6
3	acute promyelocytic leukemia	30.1	MIR223 FLT3 CSF3R
4	appendicitis	29.9	IL6 CRP
5	myelofibrosis	29.7	MIR223 JAK2 FLT3
6	relapsing polychondritis	29.7	IL6 CRP
7	leptospirosis	29.6	IL6 CRP
8	leukemia	29.5	JAK2 FLT3 CSF3R CSF2
9	myeloid leukemia	29.5	JAK2 FLT3 CSF3R CSF2
10	pericardial effusion	29.5	IL6 CRP
11	preterm premature rupture of the membranes	29.4	IL6 CRP
12	typhoid fever	29.3	IL6 CRP
13	thrombocytosis	29.3	JAK2 IL6 CSF2 CRP
14	myelodysplastic myeloproliferative cancer	29.3	JAK2 CSF3R CSF2
15	ileitis	29.2	IL6 CSF2
16	bacterial infectious disease	29.2	IL6 CSF2 CRP
17	leukemia, chronic myeloid	29.2	MIR223 JAK2 FLT3 CSF3R CSF2
18	myelodysplastic syndrome	29.1	JAK2 FLT3 CSF3R CSF2
19	renal cell carcinoma, nonpapillary	29.0	PTHLH FLT3 CSF2
20	myeloma, multiple	29.0	JAK2 IL6 CSF2 CRP
21	chronic myelomonocytic leukemia	28.9	JAK2 FLT3 CSF3R CSF2
22	leukemia, acute myeloid	28.8	MIR223 JAK2 FLT3 CSF3R CSF2
23	bone marrow cancer	28.6	JAK2 IL6 FLT3 CSF3R CSF2
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	JAK2 CSF3R
40	subacute myeloid leukemia	10.3	JAK2 FLT3
41	bronchiolitis	10.2
42	lymphoid leukemia	10.2	JAK2 FLT3
43	lymphopenia	10.2
44	essential thrombocythemia	10.2
45	core binding factor acute myeloid leukemia	10.2	JAK2 FLT3
46	bronchiolitis obliterans	10.2
47	squamous cell carcinoma	10.2
48	asthma	10.2
49	fatal familial insomnia	10.2	IL6 CSF3R
50	cold agglutinin disease	10.1	IL6 CRP

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

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Symptoms & Phenotypes for Neutrophilia, Hereditary

Human phenotypes related to Neutrophilia, Hereditary:

³³

#	Description	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

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Drugs & Therapeutics for Neutrophilia, Hereditary

Search Clinical Trials , NIH Clinical Center for Neutrophilia, Hereditary

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

hydroxyurea

Cochrane evidence based reviews: leukocytosis

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Genetic Tests for Neutrophilia, Hereditary

Genetic tests related to Neutrophilia, Hereditary:

#	Genetic test	Affiliating Genes
1	Hereditary Neutrophilia ³⁰

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Anatomical Context for Neutrophilia, Hereditary

MalaCards organs/tissues related to Neutrophilia, Hereditary:

⁴²

Neutrophil

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Publications for Neutrophilia, Hereditary

Articles related to Neutrophilia, Hereditary:

#	Title	Authors	Year
1	Hereditary neutrophilia. ( 4825608 )	Herring WB...Herion JC	1974

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Genes for Neutrophilia, Hereditary

Genes related to Neutrophilia, Hereditary (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	1066.25	Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ DISEASES inferred ¹⁵	12203110 19620628
2	MIR223	MicroRNA 223	RNA Gene	350	Causal ⁴⁸	18278031
3	JAK2	Janus Kinase 2	Protein Coding	20.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	17249502 18094555 17110452
4	CRP	C-Reactive Protein	Protein Coding	19.01	Novoseek inferred ⁵⁶	19377227 10909488 15035085 (more) 18507099 10876758 9311048 12711291 8639195 8351442 7477720 10600313 10921288 17589925 18354354 10863331 12061218 7690726 19841948 19687601 19262050 19261100 17888212 18156720 15909883 15472480 9239802 7474592 7916222 8351441 19579736 17409596 15227732 11974947 11186911 10783659 14518202 9651603 9431000 1405101 1659935 20386477 19618128 18053517 10952407 10416955 10659417 8808300 8008917 1712592 20170016 19362015 17496863 19856878 19576941 18408388 16910472 14688403 10897676 10432943 10089706 8720268 1767347 1755428 19857759 15034607 16377869 12649797 11979429 11985972 17329916 16696775 16286856 15500154 15307561 12873544 12827405 10979290 17273861 15543470 14727549 12380905 11484399 10565228 9765629 9311018 10407980 2074373 19764522 15379285 14648435 12621815 8869786 7525083 11260876 19755969 9141266 9244660 9388356 9599897
5	FLT3	Fms Related Tyrosine Kinase 3	Protein Coding	17.83	Novoseek inferred ⁵⁶	15059064 11971190 18780575 (more) 10216104 11290608 15167911 12515727 9305596 12842996 12145695
6	BPGM	Bisphosphoglycerate Mutase	Protein Coding	17.12	DISEASES inferred ¹⁵
7	IL6	Interleukin 6	Protein Coding	17	Novoseek inferred ⁵⁶	18277029 15309018 19967491 (more) 9322101 9716876 11087252 12061218 12633573 2019273 9822461 10444630 11149437 16098308 19303962 10919754 12353422 18172961 1895748 19576941 11432624 8797110 7642268 10454346 2212010 2341859 12630342 1924429 20386477 10602303 17617470
8	CSF2	Colony Stimulating Factor 2	Protein Coding	16.69	Novoseek inferred ⁵⁶	1421718 1540871 1707685 (more) 1723718 9793030 18241214 11467601
9	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	16.63	Novoseek inferred ⁵⁶	8641981 7535368 11506305 (more) 18277029 8609700 16850133 11019567

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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

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Expression for Neutrophilia, Hereditary

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

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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	Akt Signaling ⁶⁵ Show member pathways p38 Signaling ⁶⁵ Tec Kinases Signaling ⁶⁵	13.08	CSF2 CSF3R FLT3 IL6 JAK2
2	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	12.98	CSF2 CSF3R FLT3 IL6 JAK2
3	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.68	CSF3R FLT3 IL6 JAK2
4	Pathways in cancer ³⁸	12.46	CSF3R FLT3 IL6 JAK2
5	IL-17 Family Signaling Pathways ⁶⁶ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁸ Interleukin-17 signaling ⁶⁷ Mucin expression in CF via IL-6, IL-17 signaling pathways ²³	12.02	CSF2 IL6 JAK2
6	JAK-STAT signaling pathway (KEGG) ⁶⁶ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁷ JAK-STAT signaling pathway ³⁸	11.92	CSF2 CSF3R IL6 JAK2
7	Transcriptional misregulation in cancer ³⁸	11.9	CSF2 FLT3 IL6
8	Jak-Stat Signaling Pathway (sino) ⁶⁸	11.49	CSF3R IL6 JAK2
9	Cytokine production by Th17 cells in CF (Mouse model) ²³ Show member pathways Cytokine production by Th17 cells in CF ²³	11.47	CSF2 IL6 JAK2
10	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁶	11.32	CSF2 CSF3R FLT3 IL6
11	Interleukin-10 signaling ⁶⁷	11.27	CSF2 IL6
12	Hematopoietic Stem Cell Differentiation ¹	11.26	CSF2 IL6
13	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	11.24	IL6 JAK2
14	Dendritic Cells Developmental Lineage Pathway ⁶⁶	11.2	CSF2 FLT3 IL6
15	RAF-independent MAPK1/3 activation ⁶⁷ Show member pathways MAPK1 (ERK2) activation ⁶⁷ MAPK3 (ERK1) activation ⁶⁷	11.18	IL6 JAK2
16	Development_Leptin signaling via JAK/STAT and MAPK cascades ²³ Show member pathways phospho-PLA2 pathway ⁶⁷	11	CRP JAK2
17	Cytokines and Inflammatory Response ¹	10.96	CSF2 IL6
18	Hematopoietic cell lineage ³⁸	10.91	CSF2 CSF3R FLT3 IL6
19	Overview of nanoparticle effects ¹	10.68	CRP IL6

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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	peptidyl-tyrosine phosphorylation	GO:0018108	9.63	CSF2 FLT3 JAK2
4	positive regulation of cell proliferation	GO:0008284	9.55	CSF2 FLT3 IL6 JAK2 PTHLH
5	acute-phase response	GO:0006953	9.49	CRP IL6
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	protein tyrosine kinase activity	GO:0004713	9.33	CSF2 FLT3 JAK2
2	cytokine receptor activity	GO:0004896	9.26	CSF3R FLT3
3	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.13	CSF2 FLT3 JAK2
4	peptide hormone receptor binding	GO:0051428	8.62	JAK2 PTHLH

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Sources for Neutrophilia, Hereditary

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹³ diseasecard

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

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⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Neutrophilia, Hereditary (NEUTROPHILIA)

Aliases & Classifications for Neutrophilia, Hereditary

MalaCards integrated aliases for Neutrophilia, Hereditary:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neutrophilia, Hereditary

Related Diseases for Neutrophilia, Hereditary

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

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

Symptoms & Phenotypes for Neutrophilia, Hereditary

Human phenotypes related to Neutrophilia, Hereditary:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Neutrophilia, Hereditary:

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

MGI Mouse Phenotypes related to Neutrophilia, Hereditary:

Drugs & Therapeutics 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:

Anatomical Context for Neutrophilia, Hereditary

MalaCards organs/tissues related to Neutrophilia, Hereditary:

Publications for Neutrophilia, Hereditary

Articles related to Neutrophilia, Hereditary:

Genes for Neutrophilia, Hereditary

Genes related to Neutrophilia, Hereditary (2 elite genes):

Variations for Neutrophilia, Hereditary

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

ClinVar genetic disease variations for Neutrophilia, Hereditary:

Expression for Neutrophilia, Hereditary

Pathways for Neutrophilia, Hereditary

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

GO Terms for Neutrophilia, Hereditary

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

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

Sources for Neutrophilia, Hereditary

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