SCN7
MCID: SVR104
MIFTS: 31

Severe Congenital Neutropenia 7 (SCN7)

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Severe Congenital Neutropenia 7

MalaCards integrated aliases for Severe Congenital Neutropenia 7:

Name: Severe Congenital Neutropenia 7 11 14
Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency 11 58 28 5
Scn7 11

Characteristics:


Inheritance:

Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency: Autosomal recessive 58

Prevelance:

Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:0112129
ICD10 via Orphanet 32 D70
Orphanet 58 ORPHA420702

Summaries for Severe Congenital Neutropenia 7

Orphanet: 58 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.

MalaCards based summary: Severe Congenital Neutropenia 7, also known as autosomal recessive severe congenital neutropenia due to csf3r deficiency, is related to neutropenia, severe congenital, 7, autosomal recessive and neutropenia, severe congenital, 3, autosomal recessive. An important gene associated with Severe Congenital Neutropenia 7 is CSF3R (Colony Stimulating Factor 3 Receptor). Affiliated tissues include bone marrow, neutrophil and bone, and related phenotypes are immune system and hematopoietic system

Disease Ontology: 11 A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has material basis in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3.

Related Diseases for Severe Congenital Neutropenia 7

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7 Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2 Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3 Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8 Severe Congenital Neutropenia 4
Elane-Related Neutropenia Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Severe Congenital Neutropenia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 neutropenia, severe congenital, 7, autosomal recessive 11.2
2 neutropenia, severe congenital, 3, autosomal recessive 10.1 HAX1 CSF3R
3 severe congenital neutropenia 8 10.0 SRP54 DNAJC21
4 spondylometaphyseal dysplasia, corner fracture type 9.9 SRP54 DNAJC21
5 autosomal recessive severe congenital neutropenia 9.8 HAX1 G6PC3
6 severe congenital neutropenia 6 9.7 JAGN1 G6PC3
7 severe congenital neutropenia 4 9.7 HAX1 G6PC3
8 whim syndrome 1 9.7 HAX1 G6PC3 CSF3R
9 dyskeratosis congenita 9.5 USB1 HAX1 DNAJC21
10 cohen syndrome 9.5 VPS45 JAGN1 HAX1 G6PC3
11 poikiloderma with neutropenia 9.2 VPS45 USB1 JAGN1 HAX1 G6PC3
12 severe congenital neutropenia 3 9.0 VPS45 JAGN1 HAX1 GFI1 G6PC3 CSF3R
13 shwachman-diamond syndrome 1 9.0 SRP54 HAX1 GFI1 G6PC3 DNAJC21 CSF3R
14 autosomal dominant severe congenital neutropenia 9.0 SRP54 JAGN1 HAX1 GFI1 G6PC3 DNAJC21
15 severe congenital neutropenia 5 8.9 VPS45 USB1 JAGN1 HAX1 GFI1 G6PC3
16 cyclic neutropenia 8.9 USB1 JAGN1 HAX1 GFI1 G6PC3 CSF3R
17 severe congenital neutropenia 8.7 VPS45 SRP54 JAGN1 HAX1 GFI1 G6PC3
18 neutropenia 8.6 VPS45 USB1 SRP54 JAGN1 HAX1 GFI1

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 7:



Diseases related to Severe Congenital Neutropenia 7

Symptoms & Phenotypes for Severe Congenital Neutropenia 7

MGI Mouse Phenotypes related to Severe Congenital Neutropenia 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.56 CSF3R G6PC3 GFI1 HAX1 JAGN1 SERPINB9
2 hematopoietic system MP:0005397 9.23 CSF3R G6PC3 GFI1 HAX1 JAGN1 SERPINB9

Drugs & Therapeutics for Severe Congenital Neutropenia 7

Search Clinical Trials, NIH Clinical Center for Severe Congenital Neutropenia 7

Genetic Tests for Severe Congenital Neutropenia 7

Genetic tests related to Severe Congenital Neutropenia 7:

# Genetic test Affiliating Genes
1 Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency 28 CSF3R

Anatomical Context for Severe Congenital Neutropenia 7

Organs/tissues related to Severe Congenital Neutropenia 7:

MalaCards : Bone Marrow, Neutrophil, Bone, Myeloid

Publications for Severe Congenital Neutropenia 7

Articles related to Severe Congenital Neutropenia 7:

(show all 19)
# Title Authors PMID Year
1
Inherited transmission of the CSF3R T618I mutational hotspot in familial chronic neutrophilic leukemia. 5
31697825 2019
2
Phospho serine and threonine analysis of normal and mutated granulocyte colony stimulating factor receptors. 5
30967555 2019
3
Targeted next-generation sequencing identifies clinically relevant mutations in patients with chronic neutrophilic leukemia at diagnosis and blast crisis. 5
28762112 2018
4
Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia. 5
28209919 2017
5
[The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia]. 5
28219221 2017
6
Chronic neutrophilic leukemia in a child with a CSF3R T618I germ line mutation. 5
27581359 2016
7
A CSF3R T618I Mutation in a Patient with Chronic Neutrophilic Leukemia and Severe Bleeding Complications. 5
26875968 2016
8
GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. 5
26324699 2015
9
Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier case. 5
27148573 2015
10
[Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia]. 5
24854193 2015
11
Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib. 5
25491280 2015
12
T618I-Mutated Colony Stimulating Factor 3 Receptor in Chronic Neutrophilic Leukemia and Chronic Myelomonocytic Leukemia Patients who Underwent Allogeneic Stem Cell Transplantation. 5
25932451 2015
13
The CSF3R T618I mutation as a disease-specific marker of atypical CML post allo-SCT. 5
24614839 2014
14
Inherited biallelic CSF3R mutations in severe congenital neutropenia. 5
24753537 2014
15
Ligand independence of the T618I mutation in the colony-stimulating factor 3 receptor (CSF3R) protein results from loss of O-linked glycosylation and increased receptor dimerization. 5
24403076 2014
16
The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition. 5
24081659 2013
17
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. 5
23604229 2013
18
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
19
Efficacy of Low-Dose rhGM-CSF Treatment in a Patient With Severe Congenital Neutropenia Due to CSF3R Deficiency: Case Report of a Novel Biallelic CSF3R Mutation and Literature Review. 62
34778134 2021

Variations for Severe Congenital Neutropenia 7

ClinVar genetic disease variations for Severe Congenital Neutropenia 7:

5 (show top 50) (show all 323)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSF3R NM_000760.4(CSF3R):c.948_963del (p.His317fs) DEL Pathogenic
242629 rs606231475 GRCh37: 1:36937873-36937888
GRCh38: 1:36472272-36472287
2 CSF3R NM_000760.4(CSF3R):c.1245del (p.Thr416fs) DEL Pathogenic
242630 rs606231474 GRCh37: 1:36937074-36937074
GRCh38: 1:36471473-36471473
3 CSF3R NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) SNV Pathogenic
161982 rs606231473 GRCh37: 1:36937914-36937914
GRCh38: 1:36472313-36472313
4 CSF3R NM_000760.4(CSF3R):c.843+2T>C SNV Pathogenic
1033125 rs1650834071 GRCh37: 1:36938116-36938116
GRCh38: 1:36472515-36472515
5 CSF3R NM_000760.4(CSF3R):c.189G>A (p.Trp63Ter) SNV Pathogenic
1322165 GRCh37: 1:36941150-36941150
GRCh38: 1:36475549-36475549
6 CSF3R NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) INDEL Pathogenic
1372222 GRCh37: 1:36939059-36939067
GRCh38: 1:36473458-36473466
7 CSF3R NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) SNV Pathogenic
1416044 GRCh37: 1:36941261-36941261
GRCh38: 1:36475660-36475660
8 CSF3R NM_000760.4(CSF3R):c.218dup (p.Arg74fs) DUP Pathogenic
1410136 GRCh37: 1:36941120-36941121
GRCh38: 1:36475519-36475520
9 CSF3R NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) SNV Pathogenic
1431609 GRCh37: 1:36934808-36934808
GRCh38: 1:36469207-36469207
10 CSF3R NM_000760.4(CSF3R):c.1072-1G>C SNV Pathogenic
1453348 GRCh37: 1:36937248-36937248
GRCh38: 1:36471647-36471647
11 CSF3R NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) DEL Pathogenic
649220 rs1570588220 GRCh37: 1:36937873-36937901
GRCh38: 1:36472272-36472300
12 CSF3R NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) SNV Pathogenic
812885 rs756667927 GRCh37: 1:36940999-36940999
GRCh38: 1:36475398-36475398
13 CSF3R NM_000760.4(CSF3R):c.1404del (p.Ser469fs) DEL Pathogenic
971335 rs747437399 GRCh37: 1:36935323-36935323
GRCh38: 1:36469722-36469722
14 CSF3R NM_000760.4(CSF3R):c.1216dup (p.Val406fs) DUP Pathogenic
542855 rs890101650 GRCh37: 1:36937102-36937103
GRCh38: 1:36471501-36471502
15 CSF3R NM_000760.4(CSF3R):c.799del (p.Glu267fs) DEL Pathogenic
542856 rs759302795 GRCh37: 1:36938162-36938162
GRCh38: 1:36472561-36472561
16 CSF3R NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) DEL Pathogenic
655386 rs757401069 GRCh37: 1:36941118-36941136
GRCh38: 1:36475517-36475535
17 CSF3R NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) SNV Pathogenic
1070139 GRCh37: 1:36945066-36945066
GRCh38: 1:36479465-36479465
18 CSF3R NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) SNV Pathogenic
1073345 GRCh37: 1:36935339-36935339
GRCh38: 1:36469738-36469738
19 CSF3R NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) SNV Pathogenic
570920 rs138156467 GRCh37: 1:36933759-36933759
GRCh38: 1:36468158-36468158
20 CSF3R NM_000760.4(CSF3R):c.998-1G>A SNV Likely Pathogenic
1509271 GRCh37: 1:36937741-36937741
GRCh38: 1:36472140-36472140
21 CSF3R NM_000760.4(CSF3R):c.998-2A>T SNV Likely Pathogenic
242835 rs879253750 GRCh37: 1:36937742-36937742
GRCh38: 1:36472141-36472141
22 CSF3R NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) SNV Likely Pathogenic
208339 rs796065343 GRCh37: 1:36933434-36933434
GRCh38: 1:36467833-36467833
23 CSF3R NM_000760.4(CSF3R):c.106G>A (p.Val36Ile) SNV Uncertain Significance
952539 rs369635490 GRCh37: 1:36941233-36941233
GRCh38: 1:36475632-36475632
24 CSF3R NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) SNV Uncertain Significance
962850 rs1183274433 GRCh37: 1:36932088-36932088
GRCh38: 1:36466487-36466487
25 CSF3R NM_000760.4(CSF3R):c.973C>G (p.Leu325Val) SNV Uncertain Significance
966698 rs559114400 GRCh37: 1:36937863-36937863
GRCh38: 1:36472262-36472262
26 CSF3R NM_000760.4(CSF3R):c.664A>G (p.Met222Val) SNV Uncertain Significance
1000996 rs1650909656 GRCh37: 1:36939045-36939045
GRCh38: 1:36473444-36473444
27 CSF3R NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg) SNV Uncertain Significance
1015863 rs200059719 GRCh37: 1:36945037-36945037
GRCh38: 1:36479436-36479436
28 CSF3R NM_000760.4(CSF3R):c.923G>A (p.Arg308His) SNV Uncertain Significance
1018997 rs148747030 GRCh37: 1:36937913-36937913
GRCh38: 1:36472312-36472312
29 CSF3R NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) SNV Uncertain Significance
1034533 rs201991840 GRCh37: 1:36937925-36937925
GRCh38: 1:36472324-36472324
30 CSF3R NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val) SNV Uncertain Significance
1043993 rs766343562 GRCh37: 1:36932302-36932302
GRCh38: 1:36466701-36466701
31 CSF3R NM_000760.4(CSF3R):c.843+3G>A SNV Uncertain Significance
1059715 GRCh37: 1:36938115-36938115
GRCh38: 1:36472514-36472514
32 CSF3R NM_000760.4(CSF3R):c.1286-3C>T SNV Uncertain Significance
542861 rs778391319 GRCh37: 1:36935444-36935444
GRCh38: 1:36469843-36469843
33 CSF3R NM_000760.4(CSF3R):c.272A>G (p.His91Arg) SNV Uncertain Significance
434843 rs148307285 GRCh37: 1:36941067-36941067
GRCh38: 1:36475466-36475466
34 CSF3R NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) SNV Uncertain Significance
665158 rs370491074 GRCh37: 1:36932339-36932339
GRCh38: 1:36466738-36466738
35 CSF3R NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln) SNV Uncertain Significance
434841 rs369185176 GRCh37: 1:36937710-36937710
GRCh38: 1:36472109-36472109
36 CSF3R NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu) SNV Uncertain Significance
1056474 GRCh37: 1:36935402-36935402
GRCh38: 1:36469801-36469801
37 CSF3R NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) SNV Uncertain Significance
1337437 GRCh37: 1:36933492-36933492
GRCh38: 1:36467891-36467891
38 CSF3R NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) SNV Uncertain Significance
566149 rs142999683 GRCh37: 1:36940984-36940984
GRCh38: 1:36475383-36475383
39 CSF3R NM_000760.4(CSF3R):c.353G>A (p.Arg118His) SNV Uncertain Significance
476297 rs923298829 GRCh37: 1:36940986-36940986
GRCh38: 1:36475385-36475385
40 CSF3R NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val) SNV Uncertain Significance
542858 rs375571657 GRCh37: 1:36933787-36933787
GRCh38: 1:36468186-36468186
41 CSF3R NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) SNV Uncertain Significance
542859 rs752325760 GRCh37: 1:36937711-36937711
GRCh38: 1:36472110-36472110
42 CSF3R NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) SNV Uncertain Significance
842556 rs1382959301 GRCh37: 1:36932232-36932232
GRCh38: 1:36466631-36466631
43 CSF3R NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) SNV Uncertain Significance
844038 rs183614500 GRCh37: 1:36932397-36932397
GRCh38: 1:36466796-36466796
44 CSF3R NM_000760.4(CSF3R):c.1407C>T (p.Ser469=) SNV Uncertain Significance
859944 rs1306508815 GRCh37: 1:36935320-36935320
GRCh38: 1:36469719-36469719
45 CSF3R NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu) SNV Uncertain Significance
567052 rs34362628 GRCh37: 1:36941238-36941238
GRCh38: 1:36475637-36475637
46 CSF3R NM_000760.4(CSF3R):c.686C>A (p.Pro229His) SNV Uncertain Significance
570209 rs764202764 GRCh37: 1:36938275-36938275
GRCh38: 1:36472674-36472674
47 CSF3R NC_000001.10:g.(?_36931677)_(36937267_?)dup DUP Uncertain Significance
583443 GRCh37: 1:36931677-36937267
GRCh38: 1:36466076-36471666
48 CSF3R NM_000760.4(CSF3R):c.1474+3G>A SNV Uncertain Significance
1057370 GRCh37: 1:36935250-36935250
GRCh38: 1:36469649-36469649
49 CSF3R NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) DEL Uncertain Significance
844629 rs1557587773 GRCh37: 1:36933501-36933502
GRCh38: 1:36467900-36467901
50 CSF3R NM_000760.4(CSF3R):c.648A>C (p.Gln216His) SNV Uncertain Significance
1487049 GRCh37: 1:36939061-36939061
GRCh38: 1:36473460-36473460

Expression for Severe Congenital Neutropenia 7

Search GEO for disease gene expression data for Severe Congenital Neutropenia 7.

Pathways for Severe Congenital Neutropenia 7

GO Terms for Severe Congenital Neutropenia 7

Sources for Severe Congenital Neutropenia 7

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
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38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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