Neutropenia, Severe Congenital, 6, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutropenia, Severe Congenital, 6, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 6, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 6, Autosomal Recessive ⁵⁷ ⁷¹

Scn6 ⁵⁷ ⁷³

Neutropenia, Severe Congenital, Type 6, Autosomal Recessive ³⁸

Neutropenia, Severe Congenital 6, Autosomal Recessive ⁷³

Severe Congenital Neutropenia 6, Autosomal Recessive ⁵

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in early childhood
poor response to g-csf treatment

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616022

OMIM Phenotypic Series ⁵⁷ PS202700

MeSH ⁴³ D009503

MedGen ⁴⁰ C4014954 CN219643

SNOMED-CT via HPO ⁶⁹ 165517008 237836003 36440009 more

UMLS ⁷¹ C4014954

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Summaries for Neutropenia, Severe Congenital, 6, Autosomal Recessive

UniProtKB/Swiss-Prot: ⁷³ 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.

MalaCards based summary: Neutropenia, Severe Congenital, 6, Autosomal Recessive, also known as scn6, is related to severe congenital neutropenia 6. An important gene associated with Neutropenia, Severe Congenital, 6, Autosomal Recessive is JAGN1 (Jagunal Homolog 1). Affiliated tissues include neutrophil, bone marrow and bone, and related phenotypes are failure to thrive and short stature

More information from OMIM: 616022 PS202700

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Related Diseases for Neutropenia, Severe Congenital, 6, 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	Neutropenia, Severe Congenital, 9, 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, 6, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 6	11.0

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

³⁰ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	failure to thrive ³⁰	Occasional (7.5%)	HP:0001508
2	short stature ³⁰	Occasional (7.5%)	HP:0004322
3	recurrent respiratory infections ³⁰		HP:0002205
4	recurrent otitis media ³⁰		HP:0000403
5	neutropenia ³⁰		HP:0001875
6	recurrent bacterial infections ³⁰		HP:0002718

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Respiratory:
recurrent respiratory infections

Immunology:
neutropenia
recurrent bacterial infections
maturational arrest of granulocytes at the promyelocyte/myelocyte stage seen on bone marrow biopsy

Skin Nails Hair Skin:
skin abscesses

Head And Neck Ears:
recurrent otitis media

Growth Height:
short stature (in some patients)

Growth Other:
failure to thrive (in some patients)

Clinical features from OMIM®:

616022 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Neutropenia, Severe Congenital, 6, Autosomal Recessive

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Genetic Tests for Neutropenia, Severe Congenital, 6, Autosomal Recessive

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Anatomical Context for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

MalaCards : Neutrophil, Bone Marrow, Bone, Lung, Skin, Myeloid

ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

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Publications for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. ⁵⁷ ⁵	Boztug K...Klein C	25129144	2014
2	[Application of subtractive hybridization in screening for colorectal cancer negatively related genes]. ⁶²	Zheng S...Cao J	9596923	1997

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Genes for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 6, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	JAGN1	Jagunal Homolog 1	Protein Coding	1207.96	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ GeneCards inferred via : Disorders (show sections)	25129144

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Variations for Neutropenia, Severe Congenital, 6, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 6, Autosomal Recessive:

⁵ (show top 50) (show all 86)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	JAGN1	NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	SNV	Pathogenic	156116	rs587777730	GRCh37: 3:9934994-9934994 GRCh38: 3:9893310-9893310
2	JAGN1	NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	SNV	Pathogenic	156114	rs587777728	GRCh37: 3:9934639-9934639 GRCh38: 3:9892955-9892955
3	JAGN1	NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	SNV	Conflicting Interpretations Of Pathogenicity	156113	rs587777727	GRCh37: 3:9932409-9932409 GRCh38: 3:9890725-9890725
4	JAGN1	NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	SNV	Uncertain Significance	156115	rs587777729	GRCh37: 3:9932469-9932469 GRCh38: 3:9890785-9890785
5	JAGN1	NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	DEL	Uncertain Significance	156117	rs587777731	GRCh37: 3:9932436-9932444 GRCh38: 3:9890752-9890760
6	JAGN1	NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys)	SNV	Uncertain Significance	1370140		GRCh37: 3:9935028-9935028 GRCh38: 3:9893344-9893344
7	JAGN1	NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe)	SNV	Uncertain Significance	1402910		GRCh37: 3:9934693-9934693 GRCh38: 3:9893009-9893009
8	JAGN1	NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg)	SNV	Uncertain Significance	1361485		GRCh37: 3:9935051-9935051 GRCh38: 3:9893367-9893367
9	JAGN1	NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys)	SNV	Uncertain Significance	1366171		GRCh37: 3:9934898-9934898 GRCh38: 3:9893214-9893214
10	JAGN1	NM_032492.4(JAGN1):c.145C>G (p.Leu49Val)	SNV	Uncertain Significance	1480106		GRCh37: 3:9934654-9934654 GRCh38: 3:9892970-9892970
11	JAGN1	NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu)	SNV	Uncertain Significance	1467577		GRCh37: 3:9932417-9932417 GRCh38: 3:9890733-9890733
12	JAGN1	NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser)	SNV	Uncertain Significance	1499691		GRCh37: 3:9934769-9934769 GRCh38: 3:9893085-9893085
13	JAGN1	NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg)	SNV	Uncertain Significance	475243	rs919986813	GRCh37: 3:9934681-9934681 GRCh38: 3:9892997-9892997
14	JAGN1	NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln)	SNV	Uncertain Significance	475249	rs754191323	GRCh37: 3:9935050-9935050 GRCh38: 3:9893366-9893366
15	JAGN1	NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile)	SNV	Uncertain Significance	475247	rs150797085	GRCh37: 3:9932441-9932441 GRCh38: 3:9890757-9890757
16	JAGN1	NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr)	SNV	Uncertain Significance	475244	rs200023062	GRCh37: 3:9934720-9934720 GRCh38: 3:9893036-9893036
17	JAGN1	NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)	SNV	Uncertain Significance	577875	rs377495463	GRCh37: 3:9932477-9932477 GRCh38: 3:9890793-9890793
18	JAGN1	NC_000003.11:g.(?_9932387)_(9935081_?)dup	DUP	Uncertain Significance	584197		GRCh37: 3:9932387-9935081 GRCh38: 3:9890703-9893397
19	JAGN1	NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp)	SNV	Uncertain Significance	649136	rs1575466167	GRCh37: 3:9932447-9932447 GRCh38: 3:9890763-9890763
20	JAGN1	NM_032492.4(JAGN1):c.433G>A (p.Val145Ile)	SNV	Uncertain Significance	649445	rs759636820	GRCh37: 3:9934942-9934942 GRCh38: 3:9893258-9893258
21	JAGN1	NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr)	SNV	Uncertain Significance	658417	rs1177521463	GRCh37: 3:9932452-9932452 GRCh38: 3:9890768-9890768
22	JAGN1	NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro)	SNV	Uncertain Significance	666030	rs569985954	GRCh37: 3:9932417-9932417 GRCh38: 3:9890733-9890733
23	JAGN1	NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro)	SNV	Uncertain Significance	839671	rs1297627583	GRCh37: 3:9934688-9934688 GRCh38: 3:9893004-9893004
24	JAGN1	NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys)	SNV	Uncertain Significance	841147	rs146967886	GRCh37: 3:9932470-9932470 GRCh38: 3:9890786-9890786
25	JAGN1	NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del)	MICROSAT	Uncertain Significance	843940	rs756989255	GRCh37: 3:9935045-9935047 GRCh38: 3:9893361-9893363
26	JAGN1	NM_032492.4(JAGN1):c.392G>A (p.Arg131His)	SNV	Uncertain Significance	847039	rs542419840	GRCh37: 3:9934901-9934901 GRCh38: 3:9893217-9893217
27	JAGN1	NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly)	SNV	Uncertain Significance	848863	rs866176976	GRCh37: 3:9934789-9934789 GRCh38: 3:9893105-9893105
28	JAGN1	NM_032492.4(JAGN1):c.394C>T (p.His132Tyr)	SNV	Uncertain Significance	858153	rs1444848644	GRCh37: 3:9934903-9934903 GRCh38: 3:9893219-9893219
29	JAGN1	NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter)	SNV	Uncertain Significance	939939	rs771407343	GRCh37: 3:9934888-9934888 GRCh38: 3:9893204-9893204
30	JAGN1	NM_032492.4(JAGN1):c.56A>G (p.His19Arg)	SNV	Uncertain Significance	943976	rs748123071	GRCh37: 3:9932462-9932462 GRCh38: 3:9890778-9890778
31	JAGN1	NM_032492.4(JAGN1):c.70_76del (p.Ala24fs)	DEL	Uncertain Significance	947595	rs2082557086	GRCh37: 3:9932475-9932481 GRCh38: 3:9890791-9890797
32	JAGN1	NM_032492.4(JAGN1):c.90T>C (p.Ser30=)	SNV	Uncertain Significance	966622	rs201225696	GRCh37: 3:9934599-9934599 GRCh38: 3:9892915-9892915
33	JAGN1	NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg)	SNV	Uncertain Significance	1002786	rs749080431	GRCh37: 3:9935012-9935012 GRCh38: 3:9893328-9893328
34	JAGN1	NM_032492.4(JAGN1):c.346A>G (p.Ile116Val)	SNV	Uncertain Significance	1006422	rs1467031121	GRCh37: 3:9934855-9934855 GRCh38: 3:9893171-9893171
35	JAGN1	NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn)	SNV	Uncertain Significance	1011467	rs2082574453	GRCh37: 3:9934826-9934826 GRCh38: 3:9893142-9893142
36	JAGN1	NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg)	SNV	Uncertain Significance	1017842	rs2082575975	GRCh37: 3:9935026-9935026 GRCh38: 3:9893342-9893342
37	JAGN1	NM_032492.4(JAGN1):c.127G>A (p.Val43Ile)	SNV	Uncertain Significance	1020952	rs778975542	GRCh37: 3:9934636-9934636 GRCh38: 3:9892952-9892952
38	JAGN1	NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr)	SNV	Uncertain Significance	1047313	rs2082573376	GRCh37: 3:9934714-9934714 GRCh38: 3:9893030-9893030
39	JAGN1	NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly)	SNV	Uncertain Significance	1055949		GRCh37: 3:9932449-9932449 GRCh38: 3:9890765-9890765
40	JAGN1	NM_032492.4(JAGN1):c.89+4T>C	SNV	Uncertain Significance	1057517		GRCh37: 3:9932499-9932499 GRCh38: 3:9890815-9890815
41	JAGN1	NM_032492.4(JAGN1):c.77A>T (p.His26Leu)	SNV	Uncertain Significance	1060531		GRCh37: 3:9932483-9932483 GRCh38: 3:9890799-9890799
42	JAGN1	NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg)	SNV	Uncertain Significance	1388265		GRCh37: 3:9934930-9934930 GRCh38: 3:9893246-9893246
43	JAGN1	NM_032492.4(JAGN1):c.111C>G (p.Ile37Met)	SNV	Uncertain Significance	1371122		GRCh37: 3:9934620-9934620 GRCh38: 3:9892936-9892936
44	JAGN1	NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys)	SNV	Uncertain Significance	1403166		GRCh37: 3:9935005-9935005 GRCh38: 3:9893321-9893321
45	JAGN1	NM_032492.4(JAGN1):c.334A>G (p.Ile112Val)	SNV	Uncertain Significance	1409634		GRCh37: 3:9934843-9934843 GRCh38: 3:9893159-9893159
46	JAGN1	NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu)	SNV	Uncertain Significance	1400765		GRCh37: 3:9935031-9935031 GRCh38: 3:9893347-9893347
47	JAGN1	NM_032492.4(JAGN1):c.319A>G (p.Met107Val)	SNV	Uncertain Significance	1489464		GRCh37: 3:9934828-9934828 GRCh38: 3:9893144-9893144
48	JAGN1	NM_032492.4(JAGN1):c.163A>T (p.Met55Leu)	SNV	Uncertain Significance	1486200		GRCh37: 3:9934672-9934672 GRCh38: 3:9892988-9892988
49	JAGN1	NM_032492.4(JAGN1):c.193C>T (p.His65Tyr)	SNV	Uncertain Significance	1480459		GRCh37: 3:9934702-9934702 GRCh38: 3:9893018-9893018
50	JAGN1	NM_032492.4(JAGN1):c.124T>C (p.Tyr42His)	SNV	Uncertain Significance	1512903		GRCh37: 3:9934633-9934633 GRCh38: 3:9892949-9892949

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 6, Autosomal Recessive:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	JAGN1	p.Gly14Ser	VAR_071795	rs786205704
2	JAGN1	p.Arg20Gln	VAR_071796	rs777966677
3	JAGN1	p.Glu21Asp	VAR_071797	rs587777729
4	JAGN1	p.His44Tyr	VAR_071798	rs587777728
5	JAGN1	p.Gln162Arg	VAR_071799	rs587777730

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Expression for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 6, Autosomal Recessive.

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Pathways for Neutropenia, Severe Congenital, 6, Autosomal Recessive

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GO Terms for Neutropenia, Severe Congenital, 6, Autosomal Recessive

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Sources for Neutropenia, Severe Congenital, 6, Autosomal Recessive

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

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¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SCN6 MCID: NTR034 MIFTS: 25	Neutropenia, Severe Congenital, 6, Autosomal Recessive (SCN6) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Neutropenia, Severe Congenital, 6, Autosomal Recessive (SCN6)

Aliases & Classifications for Neutropenia, Severe Congenital, 6, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 6, Autosomal Recessive:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Related Diseases for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Diseases in the Neutropenia family:

Diseases related to Neutropenia, Severe Congenital, 6, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Genetic Tests for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Anatomical Context for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

Publications for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

Genes for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 6, Autosomal Recessive (1 elite genes):

Variations for Neutropenia, Severe Congenital, 6, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 6, Autosomal Recessive:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 6, Autosomal Recessive:

Expression for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Pathways for Neutropenia, Severe Congenital, 6, Autosomal Recessive

GO Terms for Neutropenia, Severe Congenital, 6, Autosomal Recessive

Sources for Neutropenia, Severe Congenital, 6, Autosomal Recessive