Neutropenia, Severe Congenital, 7, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCN7 MCID: NTR044 MIFTS: 21	Neutropenia, Severe Congenital, 7, Autosomal Recessive (SCN7) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Agranulocytosis

Orphanet: ⁶⁰

Rare immunological diseases

External Ids:

OMIM ⁵⁸ 617014

MeSH ⁴⁵ D009503

ICD10 via Orphanet ³⁵ D70

Orphanet ⁶⁰ ORPHA420702

MedGen ⁴³ C4310764 CN237114

SNOMED-CT via HPO ⁷⁰ 165517008 258211005

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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.

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

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
Severe Congenital Neutropenia	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

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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

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

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

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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

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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

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Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

#	Title	Authors	Year
1	GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. ( 26324699 )	Klimiankou M...Welte K	2015
2	Inherited biallelic CSF3R mutations in severe congenital neutropenia. ( 24753537 )	Triot A...Klein C	2014

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Genes for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	1679.83	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	24753537 26324699
2	MRPS15	Mitochondrial Ribosomal Protein S15	Protein Coding	7.97	GeneCards inferred via : Variants (show sections)

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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 82)

#	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	NM_000760.3(CSF3R): c.1684T> C (p.Tyr562His)	single nucleotide variant	Benign	rs3917996	GRCh37	Chromosome 1, 36933715: 36933715
10	CSF3R	NM_000760.3(CSF3R): c.1684T> C (p.Tyr562His)	single nucleotide variant	Benign	rs3917996	GRCh38	Chromosome 1, 36468114: 36468114
11	CSF3R	NM_000760.3(CSF3R): c.1528G> C (p.Asp510His)	single nucleotide variant	Benign	rs3917991	GRCh37	Chromosome 1, 36934805: 36934805
12	CSF3R	NM_000760.3(CSF3R): c.1528G> C (p.Asp510His)	single nucleotide variant	Benign	rs3917991	GRCh38	Chromosome 1, 36469204: 36469204
13	CSF3R	NM_000760.3(CSF3R): c.1410G> A (p.Ala470=)	single nucleotide variant	Benign/Likely benign	rs3917988	GRCh37	Chromosome 1, 36935317: 36935317
14	CSF3R	NM_000760.3(CSF3R): c.1410G> A (p.Ala470=)	single nucleotide variant	Benign/Likely benign	rs3917988	GRCh38	Chromosome 1, 36469716: 36469716
15	CSF3R	NM_000760.3(CSF3R): c.1037A> G (p.Gln346Arg)	single nucleotide variant	Benign	rs3917974	GRCh37	Chromosome 1, 36937701: 36937701
16	CSF3R	NM_000760.3(CSF3R): c.1037A> G (p.Gln346Arg)	single nucleotide variant	Benign	rs3917974	GRCh38	Chromosome 1, 36472100: 36472100
17	CSF3R	NM_000760.3(CSF3R): c.958G> A (p.Asp320Asn)	single nucleotide variant	Benign	rs3918018	GRCh37	Chromosome 1, 36937878: 36937878
18	CSF3R	NM_000760.3(CSF3R): c.958G> A (p.Asp320Asn)	single nucleotide variant	Benign	rs3918018	GRCh38	Chromosome 1, 36472277: 36472277
19	CSF3R	NM_000760.3(CSF3R): c.726C> T (p.Ala242=)	single nucleotide variant	Benign	rs3918017	GRCh37	Chromosome 1, 36938235: 36938235
20	CSF3R	NM_000760.3(CSF3R): c.726C> T (p.Ala242=)	single nucleotide variant	Benign	rs3918017	GRCh38	Chromosome 1, 36472634: 36472634
21	CSF3R	NM_000760.3(CSF3R): c.692T> C (p.Met231Thr)	single nucleotide variant	Benign	rs3917973	GRCh37	Chromosome 1, 36938269: 36938269
22	CSF3R	NM_000760.3(CSF3R): c.692T> C (p.Met231Thr)	single nucleotide variant	Benign	rs3917973	GRCh38	Chromosome 1, 36472668: 36472668
23	CSF3R	NM_000760.3(CSF3R): c.105C> A (p.Ile35=)	single nucleotide variant	Benign	rs3917954	GRCh37	Chromosome 1, 36941234: 36941234
24	CSF3R	NM_000760.3(CSF3R): c.105C> A (p.Ile35=)	single nucleotide variant	Benign	rs3917954	GRCh38	Chromosome 1, 36475633: 36475633
25	CSF3R	NM_000760.3(CSF3R): c.2496G> A (p.Ala832=)	single nucleotide variant	Benign/Likely benign	rs150501885	GRCh37	Chromosome 1, 36931973: 36931973
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.2422G> A (p.Glu808Lys)	single nucleotide variant	Benign/Likely benign	rs146617729	GRCh37	Chromosome 1, 36932047: 36932047
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.1794C> T (p.Ile598=)	single nucleotide variant	Benign	rs3917998	GRCh37	Chromosome 1, 36933493: 36933493
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.1458G> A (p.Thr486=)	single nucleotide variant	Benign/Likely benign	rs138289951	GRCh38	Chromosome 1, 36469668: 36469668
32	CSF3R	NM_000760.3(CSF3R): c.1458G> A (p.Thr486=)	single nucleotide variant	Benign/Likely benign	rs138289951	GRCh37	Chromosome 1, 36935269: 36935269
33	CSF3R	NM_000760.3(CSF3R): c.447G> C (p.Glu149Asp)	single nucleotide variant	Benign/Likely benign	rs139332126	GRCh37	Chromosome 1, 36939403: 36939403
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.1213G> A (p.Glu405Lys)	single nucleotide variant	Benign	rs3918019	GRCh38	Chromosome 1, 36471505: 36471505
36	CSF3R	NM_000760.3(CSF3R): c.1213G> A (p.Glu405Lys)	single nucleotide variant	Benign	rs3918019	GRCh37	Chromosome 1, 36937106: 36937106
37	CSF3R	NM_000760.3(CSF3R): c.2325C> T (p.Pro775=)	single nucleotide variant	Likely benign	rs138866886	GRCh38	Chromosome 1, 36466543: 36466543
38	CSF3R	NM_000760.3(CSF3R): c.2325C> T (p.Pro775=)	single nucleotide variant	Likely benign	rs138866886	GRCh37	Chromosome 1, 36932144: 36932144
39	CSF3R	NM_000760.3(CSF3R): c.1689C> A (p.Thr563=)	single nucleotide variant	Benign	rs113047241	GRCh38	Chromosome 1, 36468109: 36468109
40	CSF3R	NM_000760.3(CSF3R): c.1689C> A (p.Thr563=)	single nucleotide variant	Benign	rs113047241	GRCh37	Chromosome 1, 36933710: 36933710
41	CSF3R	NM_000760.3(CSF3R): c.1761C> T (p.Leu587=)	single nucleotide variant	Likely benign	rs149239453	GRCh38	Chromosome 1, 36467925: 36467925
42	CSF3R	NM_000760.3(CSF3R): c.1761C> T (p.Leu587=)	single nucleotide variant	Likely benign	rs149239453	GRCh37	Chromosome 1, 36933526: 36933526
43	CSF3R	NM_000760.3(CSF3R): c.353G> A (p.Arg118His)	single nucleotide variant	Uncertain significance	rs923298829	GRCh38	Chromosome 1, 36475385: 36475385
44	CSF3R	NM_000760.3(CSF3R): c.353G> A (p.Arg118His)	single nucleotide variant	Uncertain significance	rs923298829	GRCh37	Chromosome 1, 36940986: 36940986
45	CSF3R	NM_000760.3(CSF3R): c.1856T> C (p.Leu619Ser)	single nucleotide variant	Likely benign	rs141619366	GRCh37	Chromosome 1, 36933431: 36933431
46	CSF3R	NM_000760.3(CSF3R): c.1856T> C (p.Leu619Ser)	single nucleotide variant	Likely benign	rs141619366	GRCh38	Chromosome 1, 36467830: 36467830
47	CSF3R	NM_000760.3(CSF3R): c.1286-3C> T	single nucleotide variant	Uncertain significance	rs778391319	GRCh37	Chromosome 1, 36935444: 36935444
48	CSF3R	NM_000760.3(CSF3R): c.1286-3C> T	single nucleotide variant	Uncertain significance	rs778391319	GRCh38	Chromosome 1, 36469843: 36469843
49	CSF3R	NM_000760.3(CSF3R): c.1027C> T (p.Arg343Trp)	single nucleotide variant	Uncertain significance	rs752325760	GRCh38	Chromosome 1, 36472110: 36472110
50	CSF3R	NM_000760.3(CSF3R): c.1027C> T (p.Arg343Trp)	single nucleotide variant	Uncertain significance	rs752325760	GRCh37	Chromosome 1, 36937711: 36937711

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Expression for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

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Pathways for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

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

Aliases & Classifications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

Diseases in the Neutropenia family:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

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

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

Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

Genes for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive (1 elite genes):

Variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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

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

Expression 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