SCN7
MCID: NTR044
MIFTS: 20

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

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare 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 58 30 6
Scn7 58 76
Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency 60
Neutropenia, Severe Congenital 7, Autosomal Recessive 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive severe congenital neutropenia due to csf3r deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
neutropenia, severe congenital, 7, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 617014
MeSH 45 D009503
ICD10 via Orphanet 35 D70
Orphanet 60 ORPHA420702
SNOMED-CT via HPO 70 165517008 258211005

Summaries for Neutropenia, Severe Congenital, 7, Autosomal Recessive

OMIM : 58 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)

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

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 recurrent infections 33 HP:0002719
2 neutropenia 33 HP:0001875

Symptoms via clinical synopsis from OMIM:

58
Immunology:
recurrent infections
neutropenia
bone marrow shows normal myeloid maturation
poor response to g-csf

Clinical features from OMIM:

617014

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 30 CSF3R

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

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

42
Bone, Bone Marrow, Neutrophil, Myeloid

Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

76
# Symbol AA change Variation ID SNP ID
1 CSF3R p.Arg308Cys VAR_077011 rs606231473

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

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSF3R NM_000760.3(CSF3R): c.1245delG (p.Thr416Profs) deletion Pathogenic rs606231474 GRCh38 Chromosome 1, 36471473: 36471473
2 CSF3R NM_000760.3(CSF3R): c.1245delG (p.Thr416Profs) deletion Pathogenic rs606231474 GRCh37 Chromosome 1, 36937074: 36937074
3 CSF3R NM_000760.3(CSF3R): c.948_963del16 (p.His317Alafs) deletion Pathogenic rs606231475 GRCh38 Chromosome 1, 36472272: 36472287
4 CSF3R NM_000760.3(CSF3R): c.948_963del16 (p.His317Alafs) deletion Pathogenic rs606231475 GRCh37 Chromosome 1, 36937873: 36937888
5 CSF3R NM_000760.3(CSF3R): c.922C> T (p.Arg308Cys) single nucleotide variant Pathogenic rs606231473 GRCh38 Chromosome 1, 36472313: 36472313
6 CSF3R NM_000760.3(CSF3R): c.922C> T (p.Arg308Cys) single nucleotide variant Pathogenic rs606231473 GRCh37 Chromosome 1, 36937914: 36937914
7 CSF3R NG_016270.1: g.15768A> T single nucleotide variant Pathogenic rs879253750 GRCh37 Chromosome 1, 36937742: 36937742
8 CSF3R NG_016270.1: g.15768A> T single nucleotide variant Pathogenic rs879253750 GRCh38 Chromosome 1, 36472141: 36472141
9 CSF3R NP_000751.1: p.Trp547Ter undetermined variant Pathogenic
10 CSF3R NM_000760.3(CSF3R): c.1684T> C (p.Tyr562His) single nucleotide variant Benign rs3917996 GRCh37 Chromosome 1, 36933715: 36933715
11 CSF3R NM_000760.3(CSF3R): c.1684T> C (p.Tyr562His) single nucleotide variant Benign rs3917996 GRCh38 Chromosome 1, 36468114: 36468114
12 CSF3R NM_000760.3(CSF3R): c.1528G> C (p.Asp510His) single nucleotide variant Benign rs3917991 GRCh37 Chromosome 1, 36934805: 36934805
13 CSF3R NM_000760.3(CSF3R): c.1528G> C (p.Asp510His) single nucleotide variant Benign rs3917991 GRCh38 Chromosome 1, 36469204: 36469204
14 CSF3R NM_000760.3(CSF3R): c.1410G> A (p.Ala470=) single nucleotide variant Benign/Likely benign rs3917988 GRCh37 Chromosome 1, 36935317: 36935317
15 CSF3R NM_000760.3(CSF3R): c.1410G> A (p.Ala470=) single nucleotide variant Benign/Likely benign rs3917988 GRCh38 Chromosome 1, 36469716: 36469716
16 CSF3R NM_000760.3(CSF3R): c.1037A> G (p.Gln346Arg) single nucleotide variant Benign rs3917974 GRCh37 Chromosome 1, 36937701: 36937701
17 CSF3R NM_000760.3(CSF3R): c.1037A> G (p.Gln346Arg) single nucleotide variant Benign rs3917974 GRCh38 Chromosome 1, 36472100: 36472100
18 CSF3R NM_000760.3(CSF3R): c.958G> A (p.Asp320Asn) single nucleotide variant Benign rs3918018 GRCh37 Chromosome 1, 36937878: 36937878
19 CSF3R NM_000760.3(CSF3R): c.958G> A (p.Asp320Asn) single nucleotide variant Benign rs3918018 GRCh38 Chromosome 1, 36472277: 36472277
20 CSF3R NM_000760.3(CSF3R): c.726C> T (p.Ala242=) single nucleotide variant Benign rs3918017 GRCh37 Chromosome 1, 36938235: 36938235
21 CSF3R NM_000760.3(CSF3R): c.726C> T (p.Ala242=) single nucleotide variant Benign rs3918017 GRCh38 Chromosome 1, 36472634: 36472634
22 CSF3R NM_000760.3(CSF3R): c.692T> C (p.Met231Thr) single nucleotide variant Benign rs3917973 GRCh37 Chromosome 1, 36938269: 36938269
23 CSF3R NM_000760.3(CSF3R): c.692T> C (p.Met231Thr) single nucleotide variant Benign rs3917973 GRCh38 Chromosome 1, 36472668: 36472668
24 CSF3R NM_000760.3(CSF3R): c.105C> A (p.Ile35=) single nucleotide variant Benign rs3917954 GRCh37 Chromosome 1, 36941234: 36941234
25 CSF3R NM_000760.3(CSF3R): c.105C> A (p.Ile35=) single nucleotide variant Benign rs3917954 GRCh38 Chromosome 1, 36475633: 36475633
26 CSF3R NM_000760.3(CSF3R): c.2496G> A (p.Ala832=) single nucleotide variant Benign/Likely benign rs150501885 GRCh38 Chromosome 1, 36466372: 36466372
27 CSF3R NM_000760.3(CSF3R): c.2496G> A (p.Ala832=) single nucleotide variant Benign/Likely benign rs150501885 GRCh37 Chromosome 1, 36931973: 36931973
28 CSF3R NM_000760.3(CSF3R): c.2422G> A (p.Glu808Lys) single nucleotide variant Benign/Likely benign rs146617729 GRCh38 Chromosome 1, 36466446: 36466446
29 CSF3R NM_000760.3(CSF3R): c.2422G> A (p.Glu808Lys) single nucleotide variant Benign/Likely benign rs146617729 GRCh37 Chromosome 1, 36932047: 36932047
30 CSF3R NM_000760.3(CSF3R): c.1794C> T (p.Ile598=) single nucleotide variant Benign rs3917998 GRCh38 Chromosome 1, 36467892: 36467892
31 CSF3R NM_000760.3(CSF3R): c.1794C> T (p.Ile598=) single nucleotide variant Benign rs3917998 GRCh37 Chromosome 1, 36933493: 36933493
32 CSF3R NM_000760.3(CSF3R): c.1458G> A (p.Thr486=) single nucleotide variant Benign/Likely benign rs138289951 GRCh38 Chromosome 1, 36469668: 36469668
33 CSF3R NM_000760.3(CSF3R): c.1458G> A (p.Thr486=) single nucleotide variant Benign/Likely benign rs138289951 GRCh37 Chromosome 1, 36935269: 36935269
34 CSF3R NM_000760.3(CSF3R): c.447G> C (p.Glu149Asp) single nucleotide variant Benign/Likely benign rs139332126 GRCh38 Chromosome 1, 36473802: 36473802
35 CSF3R NM_000760.3(CSF3R): c.447G> C (p.Glu149Asp) single nucleotide variant Benign/Likely benign rs139332126 GRCh37 Chromosome 1, 36939403: 36939403
36 CSF3R NM_000760.3(CSF3R): c.1213G> A (p.Glu405Lys) single nucleotide variant Benign rs3918019 GRCh38 Chromosome 1, 36471505: 36471505
37 CSF3R NM_000760.3(CSF3R): c.1213G> A (p.Glu405Lys) single nucleotide variant Benign rs3918019 GRCh37 Chromosome 1, 36937106: 36937106
38 CSF3R NM_000760.3(CSF3R): c.2325C> T (p.Pro775=) single nucleotide variant Likely benign rs138866886 GRCh38 Chromosome 1, 36466543: 36466543
39 CSF3R NM_000760.3(CSF3R): c.2325C> T (p.Pro775=) single nucleotide variant Likely benign rs138866886 GRCh37 Chromosome 1, 36932144: 36932144
40 CSF3R NM_000760.3(CSF3R): c.1689C> A (p.Thr563=) single nucleotide variant Benign rs113047241 GRCh38 Chromosome 1, 36468109: 36468109
41 CSF3R NM_000760.3(CSF3R): c.1689C> A (p.Thr563=) single nucleotide variant Benign rs113047241 GRCh37 Chromosome 1, 36933710: 36933710
42 CSF3R NM_000760.3(CSF3R): c.1761C> T (p.Leu587=) single nucleotide variant Likely benign rs149239453 GRCh38 Chromosome 1, 36467925: 36467925
43 CSF3R NM_000760.3(CSF3R): c.1761C> T (p.Leu587=) single nucleotide variant Likely benign rs149239453 GRCh37 Chromosome 1, 36933526: 36933526
44 CSF3R NM_000760.3(CSF3R): c.353G> A (p.Arg118His) single nucleotide variant Uncertain significance rs923298829 GRCh38 Chromosome 1, 36475385: 36475385
45 CSF3R NM_000760.3(CSF3R): c.353G> A (p.Arg118His) single nucleotide variant Uncertain significance rs923298829 GRCh37 Chromosome 1, 36940986: 36940986
46 CSF3R NM_000760.3(CSF3R): c.1856T> C (p.Leu619Ser) single nucleotide variant Likely benign rs141619366 GRCh37 Chromosome 1, 36933431: 36933431
47 CSF3R NM_000760.3(CSF3R): c.1856T> C (p.Leu619Ser) single nucleotide variant Likely benign rs141619366 GRCh38 Chromosome 1, 36467830: 36467830
48 CSF3R NM_000760.3(CSF3R): c.1286-3C> T single nucleotide variant Uncertain significance rs778391319 GRCh37 Chromosome 1, 36935444: 36935444
49 CSF3R NM_000760.3(CSF3R): c.1286-3C> T single nucleotide variant Uncertain significance rs778391319 GRCh38 Chromosome 1, 36469843: 36469843
50 CSF3R NM_000760.3(CSF3R): c.1027C> T (p.Arg343Trp) single nucleotide variant Uncertain significance rs752325760 GRCh38 Chromosome 1, 36472110: 36472110

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

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