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

MCID: NTR044 MIFTS: 20	Neutropenia, Severe Congenital, 7, Autosomal Recessive Categories: Genetic diseases, Blood diseases, Rare diseases, Bone diseases, Immune diseases, Nephrological 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 ²⁹ ⁶

Scn7 ⁵⁷ ⁷⁵

Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency ⁵⁹

Neutropenia, Severe Congenital 7, Autosomal Recessive ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 617014

Orphanet ⁵⁹ ORPHA420702

ICD10 via Orphanet ³⁴ D70

MedGen ⁴² C4310764 CN237114

MeSH ⁴⁴ D009503

SNOMED-CT via HPO ⁶⁹ 258211005 165517008

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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)

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 : ⁷⁵ 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

617014

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

³²

#	Description	HPO Frequency	HPO Source Accession
1	neutropenia ³²		HP:0001875
2	recurrent infections ³²		HP:0002719

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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 ²⁹	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:

⁴¹

Bone Marrow, Bone, Neutrophil, Myeloid

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Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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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	1679.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24753537 26324699
2	MRPS15	Mitochondrial Ribosomal Protein S15	Protein Coding	8.06	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:

⁷⁵

#	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 61)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CSF3R	NM_156039.3(CSF3R): c.1245delG (p.Thr416Profs)	deletion	Pathogenic	rs606231474	GRCh38	Chromosome 1, 36471473: 36471473
2	CSF3R	NM_156039.3(CSF3R): c.1245delG (p.Thr416Profs)	deletion	Pathogenic	rs606231474	GRCh37	Chromosome 1, 36937074: 36937074
3	CSF3R	NM_156039.3(CSF3R): c.948_963del16 (p.His317Alafs)	deletion	Pathogenic	rs606231475	GRCh38	Chromosome 1, 36472272: 36472287
4	CSF3R	NM_156039.3(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	rs3917988	GRCh37	Chromosome 1, 36935317: 36935317
15	CSF3R	NM_000760.3(CSF3R): c.1410G> A (p.Ala470=)	single nucleotide variant	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

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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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