SCN7
MCID: NTR044
MIFTS: 25

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

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal 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 56 29 6
Scn7 56 73
Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency 58
Neutropenia, Severe Congenital 7, Autosomal Recessive 73

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:

56
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 56 617014
OMIM Phenotypic Series 56 PS202700
MeSH 43 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 : 56 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 marrow, bone and neutrophil, and related phenotypes are neutropenia and recurrent infections

UniProtKB/Swiss-Prot : 73 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.

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:

56
Immunology:
neutropenia
recurrent infections
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 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, Bone, Neutrophil, 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 56
26324699 2015
2
Inherited biallelic CSF3R mutations in severe congenital neutropenia. 6 56
24753537 2014

Variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSF3R NM_000760.4(CSF3R):c.1216dup (p.Val406fs)duplication Pathogenic 542855 rs890101650 1:36937102-36937103 1:36471501-36471502
2 CSF3R NM_000760.4(CSF3R):c.799del (p.Glu267fs)deletion Pathogenic 542856 rs759302795 1:36938162-36938162 1:36472561-36472561
3 CSF3R NM_000760.4(CSF3R):c.203_221del (p.Glu68fs)deletion Pathogenic 655386 1:36941118-36941136 1:36475517-36475535
4 CSF3R NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer)deletion Pathogenic 649220 1:36937873-36937901 1:36472272-36472300
5 CSF3R NM_000760.4(CSF3R):c.1245del (p.Thr416fs)deletion Pathogenic 242630 rs606231474 1:36937074-36937074 1:36471473-36471473
6 CSF3R NM_000760.4(CSF3R):c.948_963del (p.His317fs)deletion Pathogenic 242629 rs606231475 1:36937873-36937888 1:36472272-36472287
7 CSF3R NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)SNV Pathogenic 161982 rs606231473 1:36937914-36937914 1:36472313-36472313
8 CSF3R NM_000760.4(CSF3R):c.998-2A>TSNV Pathogenic 242835 rs879253750 1:36937742-36937742 1:36472141-36472141
9 CSF3R NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)SNV Pathogenic/Likely pathogenic 570920 rs138156467 1:36933759-36933759 1:36468158-36468158
10 CSF3R NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)SNV Conflicting interpretations of pathogenicity 432324 rs121918426 1:36933198-36933198 1:36467597-36467597
11 CSF3R NM_000760.4(CSF3R):c.1748G>A (p.Arg583His)SNV Conflicting interpretations of pathogenicity 432323 rs148104401 1:36933539-36933539 1:36467938-36467938
12 CSF3R NM_000760.4(CSF3R):c.272A>G (p.His91Arg)SNV Uncertain significance 434843 rs148307285 1:36941067-36941067 1:36475466-36475466
13 CSF3R NM_000760.4(CSF3R):c.1286-3C>TSNV Uncertain significance 542861 rs778391319 1:36935444-36935444 1:36469843-36469843
14 CSF3R NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp)SNV Uncertain significance 542859 rs752325760 1:36937711-36937711 1:36472110-36472110
15 CSF3R NM_000760.4(CSF3R):c.353G>A (p.Arg118His)SNV Uncertain significance 476297 rs923298829 1:36940986-36940986 1:36475385-36475385
16 CSF3R NM_000760.4(CSF3R):c.903G>A (p.Thr301=)SNV Uncertain significance 583118 rs746383447 1:36937933-36937933 1:36472332-36472332
17 CSF3R NM_000760.4(CSF3R):c.686C>A (p.Pro229His)SNV Uncertain significance 570209 rs764202764 1:36938275-36938275 1:36472674-36472674
18 CSF3R NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn)SNV Uncertain significance 582331 rs147017250 1:36932227-36932227 1:36466626-36466626
19 CSF3R NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu)SNV Uncertain significance 567052 rs34362628 1:36941238-36941238 1:36475637-36475637
20 CSF3R NM_000760.4(CSF3R):c.1253_1254inv (p.Arg418His)inversion Uncertain significance 581488 1:36937065-36937066 1:36471464-36471465
21 CSF3R NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr)SNV Uncertain significance 566149 rs142999683 1:36940984-36940984 1:36475383-36475383
22 CSF3R NM_000760.4(CSF3R):c.160C>T (p.His54Tyr)SNV Uncertain significance 565590 rs371768579 1:36941179-36941179 1:36475578-36475578
23 CSF3R NM_000760.4(CSF3R):c.1072-10T>CSNV Uncertain significance 626093 rs1557592278 1:36937257-36937257 1:36471656-36471656
24 CSF3R NM_000760.4(CSF3R):c.103A>G (p.Ile35Val)SNV Uncertain significance 626094 rs755370892 1:36941236-36941236 1:36475635-36475635
25 CSF3R NM_000760.4(CSF3R):c.2483A>G (p.His828Arg)SNV Uncertain significance 658414 1:36931986-36931986 1:36466385-36466385
26 CSF3R NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp)SNV Uncertain significance 665158 1:36932339-36932339 1:36466738-36466738
27 CSF3R NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys)SNV Uncertain significance 651424 1:36933540-36933540 1:36467939-36467939
28 CSF3R NM_000760.4(CSF3R):c.1510G>A (p.Val504Met)SNV Uncertain significance 660923 1:36934823-36934823 1:36469222-36469222
29 CSF3R NM_000760.4(CSF3R):c.1399C>T (p.Pro467Ser)SNV Uncertain significance 648745 1:36935328-36935328 1:36469727-36469727
30 CSF3R NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser)SNV Uncertain significance 654065 1:36935369-36935369 1:36469768-36469768
31 CSF3R NM_000760.4(CSF3R):c.1115T>A (p.Val372Glu)SNV Uncertain significance 641452 1:36937204-36937204 1:36471603-36471603
32 CSF3R NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln)SNV Uncertain significance 654824 1:36937841-36937841 1:36472240-36472240
33 CSF3R NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly)SNV Uncertain significance 650989 1:36937872-36937872 1:36472271-36472271
34 CSF3R NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn)SNV Uncertain significance 650233 1:36937925-36937925 1:36472324-36472324
35 CSF3R NM_000760.4(CSF3R):c.698G>A (p.Arg233Gln)SNV Uncertain significance 660379 1:36938263-36938263 1:36472662-36472662
36 CSF3R NM_000760.4(CSF3R):c.524T>C (p.Leu175Pro)SNV Uncertain significance 661492 1:36939185-36939185 1:36473584-36473584
37 CSF3R NM_000760.4(CSF3R):c.429G>T (p.Gln143His)SNV Uncertain significance 643048 1:36939421-36939421 1:36473820-36473820
38 CSF3R NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val)SNV Uncertain significance 542858 rs375571657 1:36933787-36933787 1:36468186-36468186
39 CSF3R NC_000001.10:g.(?_36931677)_(36937267_?)dupduplication Uncertain significance 583443 1:36931677-36937267 1:36466076-36471666
40 CSF3R NM_000760.4(CSF3R):c.160C>G (p.His54Asp)SNV Uncertain significance 657532 1:36941179-36941179 1:36475578-36475578
41 CSF3R NM_000760.4(CSF3R):c.1864+7G>TSNV Uncertain significance 665479 1:36933416-36933416 1:36467815-36467815
42 CSF3R NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys)SNV Uncertain significance 841395 1:36932190-36932190 1:36466589-36466589
43 CSF3R NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile)SNV Uncertain significance 842556 1:36932232-36932232 1:36466631-36466631
44 CSF3R NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu)SNV Uncertain significance 844038 1:36932397-36932397 1:36466796-36466796
45 CSF3R NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser)SNV Uncertain significance 851011 1:36932410-36932410 1:36466809-36466809
46 CSF3R NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs)deletion Uncertain significance 844629 1:36933501-36933502 1:36467900-36467901
47 CSF3R NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg)SNV Uncertain significance 863380 1:36933775-36933775 1:36468174-36468174
48 CSF3R NM_000760.4(CSF3R):c.1608G>C (p.Lys536Asn)SNV Uncertain significance 860222 1:36933791-36933791 1:36468190-36468190
49 CSF3R NM_000760.4(CSF3R):c.1429T>C (p.Trp477Arg)SNV Uncertain significance 852647 1:36935298-36935298 1:36469697-36469697
50 CSF3R NM_000760.4(CSF3R):c.1407C>T (p.Ser469=)SNV Uncertain significance 859944 1:36935320-36935320 1:36469719-36469719

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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