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

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
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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases Neuronal diseases Bone diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

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: 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

MedGen ⁴¹ C4310764 CN237114

SNOMED-CT via HPO ⁶⁸ 165517008 258211005

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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.

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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
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Severe Congenital Neutropenia
Severe Congenital Neutropenia 1	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant	Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

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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

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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:

⁴⁰

Bone Marrow, Bone, 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	PMID	Year
1	GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. ⁶ ⁵⁶	Klimiankou M...Welte K	26324699	2015
2	Inherited biallelic CSF3R mutations in severe congenital neutropenia. ⁶ ⁵⁶	Triot A...Klein C	24753537	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	1670.42	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24753537 26324699

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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 94) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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>T	SNV	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>T	SNV	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>C	SNV	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_?)dup	duplication	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>T	SNV	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

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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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Sources 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

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

UniProtKB/Swiss-Prot 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