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 ⁵⁸ ⁷⁴

Severe Congenital Neutropenia 6, Autosomal Recessive ³⁰ ⁶

Scn6 ⁵⁸ ⁷⁶

Autosomal Recessive Severe Congenital Neutropenia Due to Jagn1 Deficiency ⁶⁰

Neutropenia, Severe Congenital, Type 6, Autosomal Recessive ⁴¹

Neutropenia, Severe Congenital 6, Autosomal Recessive ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

autosomal recessive severe congenital neutropenia due to jagn1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

neutropenia, severe congenital, 6, 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 616022

MeSH ⁴⁵ D009503

ICD10 via Orphanet ³⁵ D70

Orphanet ⁶⁰ ORPHA423384

MedGen ⁴³ C4014954 CN219643

SNOMED-CT via HPO ⁷⁰ 165517008 237836003 258211005 more

UMLS ⁷⁴ C4014954

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Summaries for Neutropenia, Severe Congenital, 6, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁶ Neutropenia, severe congenital 6, autosomal recessive: 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, is also known as severe congenital neutropenia 6, autosomal recessive. An important gene associated with Neutropenia, Severe Congenital, 6, Autosomal Recessive is JAGN1 (Jagunal Homolog 1). Affiliated tissues include neutrophil, bone and skin, and related phenotypes are failure to thrive and short stature

Description from OMIM: 616022

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

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

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

³³ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	failure to thrive ³³	occasional (7.5%)	HP:0001508
2	short stature ³³	occasional (7.5%)	HP:0004322
3	recurrent respiratory infections ³³		HP:0002205
4	recurrent otitis media ³³		HP:0000403
5	neutropenia ³³		HP:0001875
6	recurrent bacterial infections ³³		HP:0002718

Symptoms via clinical synopsis from OMIM:

⁵⁸

Respiratory:
recurrent respiratory infections

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

Growth Other:
failure to thrive (in some patients)

Head And Neck Ears:
recurrent otitis media

Growth Height:
short stature (in some patients)

Skin Nails Hair Skin:
skin abscesses

Clinical features from OMIM:

616022

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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

Genetic tests related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Severe Congenital Neutropenia 6, Autosomal Recessive ³⁰	JAGN1

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

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

⁴²

Neutrophil, Bone, Skin, Bone Marrow, Myeloid

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Publications for Neutropenia, Severe Congenital, 6, Autosomal Recessive

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

#	Title	Authors	Year
1	JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. ( 25129144 )	Boztug K...Klein C	2014

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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	PubmedIds
1	JAGN1	Jagunal Homolog 1	Protein Coding	1678.52	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25129144

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Variations for Neutropenia, Severe Congenital, 6, Autosomal Recessive

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

⁷⁶

#	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

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

⁶ (show all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	JAGN1	NM_032492.4(JAGN1): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs587777727	GRCh38	Chromosome 3, 9890725: 9890725
2	JAGN1	NM_032492.4(JAGN1): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs587777727	GRCh37	Chromosome 3, 9932409: 9932409
3	JAGN1	NM_032492.4(JAGN1): c.130C> T (p.His44Tyr)	single nucleotide variant	Pathogenic	rs587777728	GRCh37	Chromosome 3, 9934639: 9934639
4	JAGN1	NM_032492.4(JAGN1): c.130C> T (p.His44Tyr)	single nucleotide variant	Pathogenic	rs587777728	GRCh38	Chromosome 3, 9892955: 9892955
5	JAGN1	NM_032492.4(JAGN1): c.63G> T (p.Glu21Asp)	single nucleotide variant	Pathogenic	rs587777729	GRCh38	Chromosome 3, 9890785: 9890785
6	JAGN1	NM_032492.4(JAGN1): c.63G> T (p.Glu21Asp)	single nucleotide variant	Pathogenic	rs587777729	GRCh37	Chromosome 3, 9932469: 9932469
7	JAGN1	NM_032492.4(JAGN1): c.485A> G (p.Gln162Arg)	single nucleotide variant	Pathogenic	rs587777730	GRCh38	Chromosome 3, 9893310: 9893310
8	JAGN1	NM_032492.4(JAGN1): c.485A> G (p.Gln162Arg)	single nucleotide variant	Pathogenic	rs587777730	GRCh37	Chromosome 3, 9934994: 9934994
9	JAGN1	NM_032492.3(JAGN1): c.35_43delCCGACGGCA (p.Thr12_Gly14del)	deletion	Pathogenic	rs587777731	GRCh38	Chromosome 3, 9890757: 9890765
10	JAGN1	NM_032492.3(JAGN1): c.35_43delCCGACGGCA (p.Thr12_Gly14del)	deletion	Pathogenic	rs587777731	GRCh37	Chromosome 3, 9932441: 9932449
11	JAGN1	NM_032492.4(JAGN1): c.21G> C (p.Pro7=)	single nucleotide variant	Benign	rs138937423	GRCh37	Chromosome 3, 9932427: 9932427
12	JAGN1	NM_032492.4(JAGN1): c.21G> C (p.Pro7=)	single nucleotide variant	Benign	rs138937423	GRCh38	Chromosome 3, 9890743: 9890743
13	JAGN1	NM_032492.4(JAGN1): c.35C> T (p.Thr12Ile)	single nucleotide variant	Uncertain significance	rs150797085	GRCh37	Chromosome 3, 9932441: 9932441
14	JAGN1	NM_032492.4(JAGN1): c.35C> T (p.Thr12Ile)	single nucleotide variant	Uncertain significance	rs150797085	GRCh38	Chromosome 3, 9890757: 9890757
15	JAGN1	NM_032492.4(JAGN1): c.403G> A (p.Ala135Thr)	single nucleotide variant	Benign	rs61746084	GRCh37	Chromosome 3, 9934912: 9934912
16	JAGN1	NM_032492.4(JAGN1): c.403G> A (p.Ala135Thr)	single nucleotide variant	Benign	rs61746084	GRCh38	Chromosome 3, 9893228: 9893228
17	JAGN1	NM_032492.4(JAGN1): c.541A> C (p.Lys181Gln)	single nucleotide variant	Uncertain significance	rs754191323	GRCh37	Chromosome 3, 9935050: 9935050
18	JAGN1	NM_032492.4(JAGN1): c.541A> C (p.Lys181Gln)	single nucleotide variant	Uncertain significance	rs754191323	GRCh38	Chromosome 3, 9893366: 9893366
19	JAGN1	NM_032492.4(JAGN1): c.211C> A (p.Pro71Thr)	single nucleotide variant	Uncertain significance	rs200023062	GRCh37	Chromosome 3, 9934720: 9934720
20	JAGN1	NM_032492.4(JAGN1): c.211C> A (p.Pro71Thr)	single nucleotide variant	Uncertain significance	rs200023062	GRCh38	Chromosome 3, 9893036: 9893036
21	JAGN1	NM_032492.4(JAGN1): c.172G> A (p.Gly58Arg)	single nucleotide variant	Uncertain significance	rs919986813	GRCh37	Chromosome 3, 9934681: 9934681
22	JAGN1	NM_032492.4(JAGN1): c.172G> A (p.Gly58Arg)	single nucleotide variant	Uncertain significance	rs919986813	GRCh38	Chromosome 3, 9892997: 9892997
23	JAGN1	NM_032492.4(JAGN1): c.244A> G (p.Ile82Val)	single nucleotide variant	Benign	rs35365817	GRCh37	Chromosome 3, 9934753: 9934753
24	JAGN1	NM_032492.4(JAGN1): c.244A> G (p.Ile82Val)	single nucleotide variant	Benign	rs35365817	GRCh38	Chromosome 3, 9893069: 9893069
25	JAGN1	NM_032492.4(JAGN1): c.498C> T (p.Ser166=)	single nucleotide variant	Benign	rs61738795	GRCh38	Chromosome 3, 9893323: 9893323
26	JAGN1	NM_032492.4(JAGN1): c.498C> T (p.Ser166=)	single nucleotide variant	Benign	rs61738795	GRCh37	Chromosome 3, 9935007: 9935007
27	JAGN1	NM_032492.4(JAGN1): c.270C> T (p.Leu90=)	single nucleotide variant	Likely benign	rs143617732	GRCh37	Chromosome 3, 9934779: 9934779
28	JAGN1	NM_032492.4(JAGN1): c.270C> T (p.Leu90=)	single nucleotide variant	Likely benign	rs143617732	GRCh38	Chromosome 3, 9893095: 9893095
29	JAGN1	NC_000003.12: g.(?_9890703)_(9893397_?)dup	duplication	Uncertain significance		GRCh37	Chromosome 3, 9932387: 9935081
30	JAGN1	NC_000003.12: g.(?_9890703)_(9893397_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 3, 9890703: 9893397
31	JAGN1	NM_032492.4(JAGN1): c.71C> T (p.Ala24Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 9932477: 9932477
32	JAGN1	NM_032492.4(JAGN1): c.71C> T (p.Ala24Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 9890793: 9890793

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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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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:

Orphanet epidemiological data:

OMIM:

HPO:

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:

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

Genetic tests related to Neutropenia, Severe Congenital, 6, Autosomal Recessive:

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

MalaCards 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

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

ClinVar 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