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

SCN7 MCID: NTR044 MIFTS: 26	Neutropenia, Severe Congenital, 7, Autosomal Recessive (SCN7) Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases 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 ⁵⁷ ²⁹ ⁶

Scn7 ⁵⁷ ⁷²

Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency ⁵⁸

Neutropenia, Severe Congenital 7, Autosomal Recessive ⁷²

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®:

⁵⁷ (Updated 05-Apr-2021)

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 Infectious diseases
Anatomical: Blood diseases Immune diseases Neuronal diseases Respiratory diseases Bone diseases Nephrological diseases Cardiovascular 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® ⁵⁷ 617014

OMIM Phenotypic Series ⁵⁷ PS202700

MeSH ⁴⁴ 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® : 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) (Updated 05-Apr-2021)

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

UniProtKB/Swiss-Prot : ⁷² 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	Severe Congenital Neutropenia 7
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia 2
Severe Congenital Neutropenia 5	Severe Congenital Neutropenia 3
Severe Congenital Neutropenia 6	Severe Congenital Neutropenia 8
Severe Congenital Neutropenia 4	Elane-Related Neutropenia
Acquired Neutropenia	Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Neutropenia, Severe Congenital, 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 7	11.0

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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®:

⁵⁷ (Updated 05-Apr-2021)

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

Clinical features from OMIM®:

617014 (Updated 05-Apr-2021)

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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, Neutrophil, Bone, 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 ⁵⁷	Klimiankou M...Welte K	26324699	2015
2	Inherited biallelic CSF3R mutations in severe congenital neutropenia. ⁵⁷ ⁶	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	PubMed IDs
1	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	1670.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26324699 24753537

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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 149)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CSF3R	NM_000760.4(CSF3R):c.998-2A>T	SNV	Pathogenic	242835	rs879253750	GRCh37: 1:36937742-36937742 GRCh38: 1:36472141-36472141
2	CSF3R	NM_000760.4(CSF3R):c.1404del (p.Ser469fs)	Deletion	Pathogenic	971335		GRCh37: 1:36935323-36935323 GRCh38: 1:36469722-36469722
3	CSF3R	NM_000760.4(CSF3R):c.1216dup (p.Val406fs)	Duplication	Pathogenic	542855	rs890101650	GRCh37: 1:36937102-36937103 GRCh38: 1:36471501-36471502
4	CSF3R	NM_000760.4(CSF3R):c.799del (p.Glu267fs)	Deletion	Pathogenic	542856	rs759302795	GRCh37: 1:36938162-36938162 GRCh38: 1:36472561-36472561
5	CSF3R	NM_000760.4(CSF3R):c.203_221del (p.Glu68fs)	Deletion	Pathogenic	655386	rs757401069	GRCh37: 1:36941118-36941136 GRCh38: 1:36475517-36475535
6	CSF3R	NM_000760.4(CSF3R):c.948_963del (p.His317fs)	Deletion	Pathogenic	242629	rs606231475	GRCh37: 1:36937873-36937888 GRCh38: 1:36472272-36472287
7	CSF3R	NM_000760.4(CSF3R):c.1245del (p.Thr416fs)	Deletion	Pathogenic	242630	rs606231474	GRCh37: 1:36937074-36937074 GRCh38: 1:36471473-36471473
8	CSF3R	NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)	SNV	Pathogenic	161982	rs606231473	GRCh37: 1:36937914-36937914 GRCh38: 1:36472313-36472313
9	CSF3R	NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)	SNV	Pathogenic	812885	rs756667927	GRCh37: 1:36940999-36940999 GRCh38: 1:36475398-36475398
10	CSF3R	NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer)	Deletion	Pathogenic	649220	rs1570588220	GRCh37: 1:36937873-36937901 GRCh38: 1:36472272-36472300
11	CSF3R	NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter)	SNV	Pathogenic	1033124		GRCh37: 1:36938125-36938125 GRCh38: 1:36472524-36472524
12	CSF3R	NM_000760.4(CSF3R):c.843+2T>C	SNV	Pathogenic	1033125		GRCh37: 1:36938116-36938116 GRCh38: 1:36472515-36472515
13	CSF3R	NM_000760.4(CSF3R):c.872del (p.Gln291fs)	Deletion	Pathogenic	1033126		GRCh37: 1:36937964-36937964 GRCh38: 1:36472363-36472363
14	CSF3R	NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)	SNV	Pathogenic	570920	rs138156467	GRCh37: 1:36933759-36933759 GRCh38: 1:36468158-36468158
15	CSF3R	NM_000760.4(CSF3R):c.1071+1_1071+5dup	Duplication	Pathogenic	1033122		GRCh37: 1:36937661-36937662 GRCh38: 1:36472060-36472061
16	CSF3R	NM_000760.4(CSF3R):c.2041-30C>T	SNV	Uncertain significance	1033123		GRCh37: 1:36932458-36932458 GRCh38: 1:36466857-36466857
17	CSF3R	NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg)	SNV	Uncertain significance	450176	rs759364352	GRCh37: 1:36941260-36941260 GRCh38: 1:36475659-36475659
18	CSF3R	NM_000760.4(CSF3R):c.*161G>A	SNV	Uncertain significance	1033121		GRCh37: 1:36931797-36931797 GRCh38: 1:36466196-36466196
19	CSF3R	NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu)	SNV	Uncertain significance	932124		GRCh37: 1:36933246-36933246 GRCh38: 1:36467645-36467645
20	CSF3R	NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser)	SNV	Uncertain significance	1034533		GRCh37: 1:36937925-36937925 GRCh38: 1:36472324-36472324
21	CSF3R	NM_000760.4(CSF3R):c.114G>A (p.Leu38=)	SNV	Uncertain significance	1034867		GRCh37: 1:36941225-36941225 GRCh38: 1:36475624-36475624
22	CSF3R	NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu)	SNV	Uncertain significance	1037231		GRCh37: 1:36932352-36932352 GRCh38: 1:36466751-36466751
23	CSF3R	NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg)	SNV	Uncertain significance	1038646		GRCh37: 1:36937076-36937076 GRCh38: 1:36471475-36471475
24	CSF3R	NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter)	SNV	Uncertain significance	988402		GRCh37: 1:36932254-36932254 GRCh38: 1:36466653-36466653
25	CSF3R	NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn)	SNV	Uncertain significance	1041232		GRCh37: 1:36932275-36932275 GRCh38: 1:36466674-36466674
26	CSF3R	NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr)	SNV	Uncertain significance	1041961		GRCh37: 1:36933786-36933786 GRCh38: 1:36468185-36468185
27	CSF3R	NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys)	SNV	Uncertain significance	1042973		GRCh37: 1:36941027-36941027 GRCh38: 1:36475426-36475426
28	CSF3R	NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser)	SNV	Uncertain significance	1043211		GRCh37: 1:36937899-36937899 GRCh38: 1:36472298-36472298
29	CSF3R	NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val)	SNV	Uncertain significance	1043993		GRCh37: 1:36932302-36932302 GRCh38: 1:36466701-36466701
30	CSF3R	NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met)	SNV	Uncertain significance	1046748		GRCh37: 1:36935270-36935270 GRCh38: 1:36469669-36469669
31	CSF3R	NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly)	SNV	Uncertain significance	1047779		GRCh37: 1:36941017-36941017 GRCh38: 1:36475416-36475416
32	CSF3R	NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn)	SNV	Uncertain significance	650233	rs201991840	GRCh37: 1:36937925-36937925 GRCh38: 1:36472324-36472324
33	CSF3R	NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly)	SNV	Uncertain significance	650989	rs376634675	GRCh37: 1:36937872-36937872 GRCh38: 1:36472271-36472271
34	CSF3R	NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)	SNV	Uncertain significance	208339	rs796065343	GRCh37: 1:36933434-36933434 GRCh38: 1:36467833-36467833
35	CSF3R	NM_000760.4(CSF3R):c.664A>G (p.Met222Val)	SNV	Uncertain significance	1000996		GRCh37: 1:36939045-36939045 GRCh38: 1:36473444-36473444
36	CSF3R	NM_000760.4(CSF3R):c.1724-6T>G	SNV	Uncertain significance	1001074		GRCh37: 1:36933569-36933569 GRCh38: 1:36467968-36467968
37	CSF3R	NM_000760.4(CSF3R):c.1266G>A (p.Val422=)	SNV	Uncertain significance	1003147		GRCh37: 1:36937053-36937053 GRCh38: 1:36471452-36471452
38	CSF3R	NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met)	SNV	Uncertain significance	1003947		GRCh37: 1:36933766-36933766 GRCh38: 1:36468165-36468165
39	CSF3R	NM_000760.4(CSF3R):c.325C>A (p.Leu109Met)	SNV	Uncertain significance	1009751		GRCh37: 1:36941014-36941014 GRCh38: 1:36475413-36475413
40	CSF3R	NM_000760.4(CSF3R):c.160C>T (p.His54Tyr)	SNV	Uncertain significance	565590	rs371768579	GRCh37: 1:36941179-36941179 GRCh38: 1:36475578-36475578
41	CSF3R	NM_000760.4(CSF3R):c.103A>G (p.Ile35Val)	SNV	Uncertain significance	626094	rs755370892	GRCh37: 1:36941236-36941236 GRCh38: 1:36475635-36475635
42	CSF3R	NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys)	SNV	Uncertain significance	651424	rs3917997	GRCh37: 1:36933540-36933540 GRCh38: 1:36467939-36467939
43	CSF3R	NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser)	SNV	Uncertain significance	654065	rs763953521	GRCh37: 1:36935369-36935369 GRCh38: 1:36469768-36469768
44	CSF3R	NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln)	SNV	Uncertain significance	654824	rs758186406	GRCh37: 1:36937841-36937841 GRCh38: 1:36472240-36472240
45	CSF3R	NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro)	SNV	Uncertain significance	840917		GRCh37: 1:36937141-36937141 GRCh38: 1:36471540-36471540
46	CSF3R	NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs)	Deletion	Uncertain significance	844629		GRCh37: 1:36933501-36933502 GRCh38: 1:36467900-36467901
47	CSF3R	NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser)	SNV	Uncertain significance	944840		GRCh37: 1:36935376-36935376 GRCh38: 1:36469775-36469775
48	CSF3R	NM_000760.4(CSF3R):c.532G>A (p.Val178Met)	SNV	Uncertain significance	1014441		GRCh37: 1:36939177-36939177 GRCh38: 1:36473576-36473576
49	CSF3R	NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg)	SNV	Uncertain significance	1015863		GRCh37: 1:36945037-36945037 GRCh38: 1:36479436-36479436
50	CSF3R	NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His)	SNV	Uncertain significance	1016002		GRCh37: 1:36934811-36934811 GRCh38: 1:36469210-36469210

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

⁷²

#	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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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

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⁷³ Wikipedia

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:

Diseases related to Neutropenia, Severe Congenital, 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

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