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 ⁷³

Severe Congenital Neutropenia 6, Autosomal Recessive ²⁹ ⁶

Scn6 ⁵⁷ ⁷⁵

Autosomal Recessive Severe Congenital Neutropenia Due to Jagn1 Deficiency ⁵⁹

Neutropenia, Severe Congenital, Type 6, Autosomal Recessive ⁴⁰

Neutropenia, Severe Congenital 6, Autosomal Recessive ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

neutropenia, severe congenital, 6, 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 616022

Orphanet ⁵⁹ ORPHA423384

ICD10 via Orphanet ³⁴ D70

MedGen ⁴² C4014954 CN219643

MeSH ⁴⁴ D009503

SNOMED-CT via HPO ⁶⁹ 258211005 36440009 432788009 more

UMLS ⁷³ C4014954

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Summaries for Neutropenia, Severe Congenital, 6, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ 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, skin and bone, and related phenotypes are failure to thrive and recurrent respiratory infections

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Height:
short stature (in some patients)

Head And Neck Ears:
recurrent otitis media

Skin Nails Hair Skin:
skin abscesses

Growth Other:
failure to thrive (in some patients)

Respiratory:
recurrent respiratory infections

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

Clinical features from OMIM:

616022

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

³² (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	failure to thrive ³²	occasional (7.5%)	HP:0001508
2	recurrent respiratory infections ³²		HP:0002205
3	short stature ³²	occasional (7.5%)	HP:0004322
4	recurrent otitis media ³²		HP:0000403
5	neutropenia ³²		HP:0001875
6	recurrent bacterial infections ³²		HP:0002718

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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 ²⁹	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:

⁴¹

Neutrophil, Skin, Bone, Bone Marrow

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Publications for Neutropenia, Severe Congenital, 6, Autosomal Recessive

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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	1678.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ 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:

⁷⁵

#	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 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	JAGN1	NM_032492.3(JAGN1): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs587777727	GRCh38	Chromosome 3, 9890725: 9890725
2	JAGN1	NM_032492.3(JAGN1): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs587777727	GRCh37	Chromosome 3, 9932409: 9932409
3	JAGN1	NM_032492.3(JAGN1): c.130C> T (p.His44Tyr)	single nucleotide variant	Pathogenic	rs587777728	GRCh37	Chromosome 3, 9934639: 9934639
4	JAGN1	NM_032492.3(JAGN1): c.130C> T (p.His44Tyr)	single nucleotide variant	Pathogenic	rs587777728	GRCh38	Chromosome 3, 9892955: 9892955
5	JAGN1	NM_032492.3(JAGN1): c.63G> T (p.Glu21Asp)	single nucleotide variant	Pathogenic	rs587777729	GRCh38	Chromosome 3, 9890785: 9890785
6	JAGN1	NM_032492.3(JAGN1): c.63G> T (p.Glu21Asp)	single nucleotide variant	Pathogenic	rs587777729	GRCh37	Chromosome 3, 9932469: 9932469
7	JAGN1	NM_032492.3(JAGN1): c.485A> G (p.Gln162Arg)	single nucleotide variant	Pathogenic	rs587777730	GRCh38	Chromosome 3, 9893310: 9893310
8	JAGN1	NM_032492.3(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_032492.3(JAGN1): c.21G> C (p.Pro7=)	single nucleotide variant	Benign	rs138937423	GRCh37	Chromosome 3, 9932427: 9932427
12	JAGN1	NM_032492.3(JAGN1): c.21G> C (p.Pro7=)	single nucleotide variant	Benign	rs138937423	GRCh38	Chromosome 3, 9890743: 9890743
13	JAGN1	NM_032492.3(JAGN1): c.35C> T (p.Thr12Ile)	single nucleotide variant	Uncertain significance	rs150797085	GRCh37	Chromosome 3, 9932441: 9932441
14	JAGN1	NM_032492.3(JAGN1): c.35C> T (p.Thr12Ile)	single nucleotide variant	Uncertain significance	rs150797085	GRCh38	Chromosome 3, 9890757: 9890757
15	JAGN1	NM_032492.3(JAGN1): c.403G> A (p.Ala135Thr)	single nucleotide variant	Benign	rs61746084	GRCh37	Chromosome 3, 9934912: 9934912
16	JAGN1	NM_032492.3(JAGN1): c.403G> A (p.Ala135Thr)	single nucleotide variant	Benign	rs61746084	GRCh38	Chromosome 3, 9893228: 9893228
17	JAGN1	NM_032492.3(JAGN1): c.541A> C (p.Lys181Gln)	single nucleotide variant	Uncertain significance	rs754191323	GRCh37	Chromosome 3, 9935050: 9935050
18	JAGN1	NM_032492.3(JAGN1): c.541A> C (p.Lys181Gln)	single nucleotide variant	Uncertain significance	rs754191323	GRCh38	Chromosome 3, 9893366: 9893366
19	JAGN1	NM_032492.3(JAGN1): c.211C> A (p.Pro71Thr)	single nucleotide variant	Uncertain significance	rs200023062	GRCh37	Chromosome 3, 9934720: 9934720
20	JAGN1	NM_032492.3(JAGN1): c.211C> A (p.Pro71Thr)	single nucleotide variant	Uncertain significance	rs200023062	GRCh38	Chromosome 3, 9893036: 9893036
21	JAGN1	NM_032492.3(JAGN1): c.172G> A (p.Gly58Arg)	single nucleotide variant	Uncertain significance	rs919986813	GRCh37	Chromosome 3, 9934681: 9934681
22	JAGN1	NM_032492.3(JAGN1): c.172G> A (p.Gly58Arg)	single nucleotide variant	Uncertain significance	rs919986813	GRCh38	Chromosome 3, 9892997: 9892997
23	JAGN1	NM_032492.3(JAGN1): c.244A> G (p.Ile82Val)	single nucleotide variant	Benign	rs35365817	GRCh37	Chromosome 3, 9934753: 9934753
24	JAGN1	NM_032492.3(JAGN1): c.244A> G (p.Ile82Val)	single nucleotide variant	Benign	rs35365817	GRCh38	Chromosome 3, 9893069: 9893069
25	JAGN1	NM_032492.3(JAGN1): c.498C> T (p.Ser166=)	single nucleotide variant	Benign	rs61738795	GRCh37	Chromosome 3, 9935007: 9935007
26	JAGN1	NM_032492.3(JAGN1): c.498C> T (p.Ser166=)	single nucleotide variant	Benign	rs61738795	GRCh38	Chromosome 3, 9893323: 9893323
27	JAGN1	NM_032492.3(JAGN1): c.270C> T (p.Leu90=)	single nucleotide variant	Likely benign	rs143617732	GRCh37	Chromosome 3, 9934779: 9934779
28	JAGN1	NM_032492.3(JAGN1): c.270C> T (p.Leu90=)	single nucleotide variant	Likely benign	rs143617732	GRCh38	Chromosome 3, 9893095: 9893095

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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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