SCN7
MCID: NTR044
MIFTS: 27

Neutropenia, Severe Congenital, 7, Autosomal Recessive (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 Neutropenia, Severe Congenital, 7, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 7, Autosomal Recessive 57 5 38
Scn7 57 73
Neutropenia, Severe Congenital 7, Autosomal Recessive 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or early childhood
some patients may show a response to gm-csf treatment


Classifications:



External Ids:

OMIM® 57 617014
OMIM Phenotypic Series 57 PS202700
MeSH 43 D009503
SNOMED-CT via HPO 69 165517008

Summaries for Neutropenia, Severe Congenital, 7, Autosomal Recessive

OMIM®: 57 Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by Triot et al., 2014 and Klimiankou et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). (617014) (Updated 08-Dec-2022)

MalaCards based summary: Neutropenia, Severe Congenital, 7, Autosomal Recessive, also known as scn7, is related to severe congenital neutropenia 7. An important gene associated with Neutropenia, Severe Congenital, 7, Autosomal Recessive is CSF3R (Colony Stimulating Factor 3 Receptor). Affiliated tissues include bone marrow, neutrophil and bone, and related phenotypes are neutropenia and recurrent infections

UniProtKB/Swiss-Prot: 73 A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

Related Diseases for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 30 HP:0001875
2 recurrent infections 30 HP:0002719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Immunology:
neutropenia
recurrent infections
bone marrow shows normal myeloid maturation
poor response to g-csf

Clinical features from OMIM®:

617014 (Updated 08-Dec-2022)

Drugs & Therapeutics for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

Genetic Tests for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Anatomical Context for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

MalaCards : Bone Marrow, Neutrophil, Bone, Myeloid
ODiseA: Blood And Bone Marrow

Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

(show all 19)
# Title Authors PMID Year
1
GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. 57 5
26324699 2015
2
Inherited biallelic CSF3R mutations in severe congenital neutropenia. 57 5
24753537 2014
3
Inherited transmission of the CSF3R T618I mutational hotspot in familial chronic neutrophilic leukemia. 5
31697825 2019
4
Phospho serine and threonine analysis of normal and mutated granulocyte colony stimulating factor receptors. 5
30967555 2019
5
Targeted next-generation sequencing identifies clinically relevant mutations in patients with chronic neutrophilic leukemia at diagnosis and blast crisis. 5
28762112 2018
6
Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia. 5
28209919 2017
7
[The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia]. 5
28219221 2017
8
Chronic neutrophilic leukemia in a child with a CSF3R T618I germ line mutation. 5
27581359 2016
9
A CSF3R T618I Mutation in a Patient with Chronic Neutrophilic Leukemia and Severe Bleeding Complications. 5
26875968 2016
10
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
11
[Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia]. 5
24854193 2015
12
Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib. 5
25491280 2015
13
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
14
The CSF3R T618I mutation as a disease-specific marker of atypical CML post allo-SCT. 5
24614839 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 Neutropenia, Severe Congenital, 7, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

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

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 CSF3R p.Arg308Cys VAR_077011 rs606231473

Expression for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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Pathways for Neutropenia, Severe Congenital, 7, Autosomal Recessive

GO Terms for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Sources for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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