SCN7
MCID: NTR044
MIFTS: 26

Neutropenia, Severe Congenital, 7, Autosomal Recessive (SCN7)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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 29 6
Scn7 57 72
Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency 58
Neutropenia, Severe Congenital 7, Autosomal Recessive 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive severe congenital neutropenia due to csf3r deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
some patients may show a response to gm-csf treatment


HPO:

31
neutropenia, severe congenital, 7, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 617014
OMIM Phenotypic Series 57 PS202700
MeSH 44 D009503
ICD10 via Orphanet 33 D70
Orphanet 58 ORPHA420702
SNOMED-CT via HPO 68 165517008 258211005

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 05-Apr-2021)

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 : 72 Neutropenia, severe congenital 7, autosomal recessive: 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:

31
# Description HPO Frequency HPO Source Accession
1 neutropenia 31 HP:0001875
2 recurrent infections 31 HP:0002719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
neutropenia
recurrent infections
bone marrow shows normal myeloid maturation
poor response to g-csf

Clinical features from OMIM®:

617014 (Updated 05-Apr-2021)

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

Genetic tests related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Neutropenia, Severe Congenital, 7, Autosomal Recessive 29 CSF3R

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

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

40
Bone Marrow, Neutrophil, Bone, Myeloid

Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

# Title Authors PMID Year
1
GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. 6 57
26324699 2015
2
Inherited biallelic CSF3R mutations in severe congenital neutropenia. 57 6
24753537 2014

Variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

6 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSF3R NM_000760.4(CSF3R):c.998-2A>T SNV Pathogenic 242835 rs879253750 GRCh37: 1:36937742-36937742
GRCh38: 1:36472141-36472141
2 CSF3R NM_000760.4(CSF3R):c.1404del (p.Ser469fs) Deletion Pathogenic 971335 GRCh37: 1:36935323-36935323
GRCh38: 1:36469722-36469722
3 CSF3R NM_000760.4(CSF3R):c.1216dup (p.Val406fs) Duplication Pathogenic 542855 rs890101650 GRCh37: 1:36937102-36937103
GRCh38: 1:36471501-36471502
4 CSF3R NM_000760.4(CSF3R):c.799del (p.Glu267fs) Deletion Pathogenic 542856 rs759302795 GRCh37: 1:36938162-36938162
GRCh38: 1:36472561-36472561
5 CSF3R NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) Deletion Pathogenic 655386 rs757401069 GRCh37: 1:36941118-36941136
GRCh38: 1:36475517-36475535
6 CSF3R NM_000760.4(CSF3R):c.948_963del (p.His317fs) Deletion Pathogenic 242629 rs606231475 GRCh37: 1:36937873-36937888
GRCh38: 1:36472272-36472287
7 CSF3R NM_000760.4(CSF3R):c.1245del (p.Thr416fs) Deletion Pathogenic 242630 rs606231474 GRCh37: 1:36937074-36937074
GRCh38: 1:36471473-36471473
8 CSF3R NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) SNV Pathogenic 161982 rs606231473 GRCh37: 1:36937914-36937914
GRCh38: 1:36472313-36472313
9 CSF3R NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) SNV Pathogenic 812885 rs756667927 GRCh37: 1:36940999-36940999
GRCh38: 1:36475398-36475398
10 CSF3R NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) Deletion Pathogenic 649220 rs1570588220 GRCh37: 1:36937873-36937901
GRCh38: 1:36472272-36472300
11 CSF3R NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter) SNV Pathogenic 1033124 GRCh37: 1:36938125-36938125
GRCh38: 1:36472524-36472524
12 CSF3R NM_000760.4(CSF3R):c.843+2T>C SNV Pathogenic 1033125 GRCh37: 1:36938116-36938116
GRCh38: 1:36472515-36472515
13 CSF3R NM_000760.4(CSF3R):c.872del (p.Gln291fs) Deletion Pathogenic 1033126 GRCh37: 1:36937964-36937964
GRCh38: 1:36472363-36472363
14 CSF3R NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) SNV Pathogenic 570920 rs138156467 GRCh37: 1:36933759-36933759
GRCh38: 1:36468158-36468158
15 CSF3R NM_000760.4(CSF3R):c.1071+1_1071+5dup Duplication Pathogenic 1033122 GRCh37: 1:36937661-36937662
GRCh38: 1:36472060-36472061
16 CSF3R NM_000760.4(CSF3R):c.2041-30C>T SNV Uncertain significance 1033123 GRCh37: 1:36932458-36932458
GRCh38: 1:36466857-36466857
17 CSF3R NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) SNV Uncertain significance 450176 rs759364352 GRCh37: 1:36941260-36941260
GRCh38: 1:36475659-36475659
18 CSF3R NM_000760.4(CSF3R):c.*161G>A SNV Uncertain significance 1033121 GRCh37: 1:36931797-36931797
GRCh38: 1:36466196-36466196
19 CSF3R NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) SNV Uncertain significance 932124 GRCh37: 1:36933246-36933246
GRCh38: 1:36467645-36467645
20 CSF3R NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) SNV Uncertain significance 1034533 GRCh37: 1:36937925-36937925
GRCh38: 1:36472324-36472324
21 CSF3R NM_000760.4(CSF3R):c.114G>A (p.Leu38=) SNV Uncertain significance 1034867 GRCh37: 1:36941225-36941225
GRCh38: 1:36475624-36475624
22 CSF3R NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu) SNV Uncertain significance 1037231 GRCh37: 1:36932352-36932352
GRCh38: 1:36466751-36466751
23 CSF3R NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg) SNV Uncertain significance 1038646 GRCh37: 1:36937076-36937076
GRCh38: 1:36471475-36471475
24 CSF3R NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) SNV Uncertain significance 988402 GRCh37: 1:36932254-36932254
GRCh38: 1:36466653-36466653
25 CSF3R NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn) SNV Uncertain significance 1041232 GRCh37: 1:36932275-36932275
GRCh38: 1:36466674-36466674
26 CSF3R NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr) SNV Uncertain significance 1041961 GRCh37: 1:36933786-36933786
GRCh38: 1:36468185-36468185
27 CSF3R NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys) SNV Uncertain significance 1042973 GRCh37: 1:36941027-36941027
GRCh38: 1:36475426-36475426
28 CSF3R NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser) SNV Uncertain significance 1043211 GRCh37: 1:36937899-36937899
GRCh38: 1:36472298-36472298
29 CSF3R NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val) SNV Uncertain significance 1043993 GRCh37: 1:36932302-36932302
GRCh38: 1:36466701-36466701
30 CSF3R NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met) SNV Uncertain significance 1046748 GRCh37: 1:36935270-36935270
GRCh38: 1:36469669-36469669
31 CSF3R NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly) SNV Uncertain significance 1047779 GRCh37: 1:36941017-36941017
GRCh38: 1:36475416-36475416
32 CSF3R NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn) SNV Uncertain significance 650233 rs201991840 GRCh37: 1:36937925-36937925
GRCh38: 1:36472324-36472324
33 CSF3R NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly) SNV Uncertain significance 650989 rs376634675 GRCh37: 1:36937872-36937872
GRCh38: 1:36472271-36472271
34 CSF3R NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) SNV Uncertain significance 208339 rs796065343 GRCh37: 1:36933434-36933434
GRCh38: 1:36467833-36467833
35 CSF3R NM_000760.4(CSF3R):c.664A>G (p.Met222Val) SNV Uncertain significance 1000996 GRCh37: 1:36939045-36939045
GRCh38: 1:36473444-36473444
36 CSF3R NM_000760.4(CSF3R):c.1724-6T>G SNV Uncertain significance 1001074 GRCh37: 1:36933569-36933569
GRCh38: 1:36467968-36467968
37 CSF3R NM_000760.4(CSF3R):c.1266G>A (p.Val422=) SNV Uncertain significance 1003147 GRCh37: 1:36937053-36937053
GRCh38: 1:36471452-36471452
38 CSF3R NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met) SNV Uncertain significance 1003947 GRCh37: 1:36933766-36933766
GRCh38: 1:36468165-36468165
39 CSF3R NM_000760.4(CSF3R):c.325C>A (p.Leu109Met) SNV Uncertain significance 1009751 GRCh37: 1:36941014-36941014
GRCh38: 1:36475413-36475413
40 CSF3R NM_000760.4(CSF3R):c.160C>T (p.His54Tyr) SNV Uncertain significance 565590 rs371768579 GRCh37: 1:36941179-36941179
GRCh38: 1:36475578-36475578
41 CSF3R NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) SNV Uncertain significance 626094 rs755370892 GRCh37: 1:36941236-36941236
GRCh38: 1:36475635-36475635
42 CSF3R NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys) SNV Uncertain significance 651424 rs3917997 GRCh37: 1:36933540-36933540
GRCh38: 1:36467939-36467939
43 CSF3R NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser) SNV Uncertain significance 654065 rs763953521 GRCh37: 1:36935369-36935369
GRCh38: 1:36469768-36469768
44 CSF3R NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln) SNV Uncertain significance 654824 rs758186406 GRCh37: 1:36937841-36937841
GRCh38: 1:36472240-36472240
45 CSF3R NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro) SNV Uncertain significance 840917 GRCh37: 1:36937141-36937141
GRCh38: 1:36471540-36471540
46 CSF3R NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) Deletion Uncertain significance 844629 GRCh37: 1:36933501-36933502
GRCh38: 1:36467900-36467901
47 CSF3R NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser) SNV Uncertain significance 944840 GRCh37: 1:36935376-36935376
GRCh38: 1:36469775-36469775
48 CSF3R NM_000760.4(CSF3R):c.532G>A (p.Val178Met) SNV Uncertain significance 1014441 GRCh37: 1:36939177-36939177
GRCh38: 1:36473576-36473576
49 CSF3R NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg) SNV Uncertain significance 1015863 GRCh37: 1:36945037-36945037
GRCh38: 1:36479436-36479436
50 CSF3R NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His) SNV Uncertain significance 1016002 GRCh37: 1:36934811-36934811
GRCh38: 1:36469210-36469210

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

72
# Symbol AA change Variation ID SNP ID
1 CSF3R p.Arg308Cys VAR_077011 rs606231473

Expression for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

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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