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 ⁷²

Severe Congenital Neutropenia 6, Autosomal Recessive ²⁹ ⁶

Scn6 ⁵⁷ ⁷⁴

Autosomal Recessive Severe Congenital Neutropenia Due to Jagn1 Deficiency ⁵⁹

Neutropenia, Severe Congenital, Type 6, Autosomal Recessive ⁴⁰

Neutropenia, Severe Congenital 6, Autosomal Recessive ⁷⁴

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 Cancer diseases
Anatomical: Blood diseases Bone diseases Immune 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 PS202700

MeSH ⁴⁴ D009503

ICD10 via Orphanet ³⁴ D70

Orphanet ⁵⁹ ORPHA423384

MedGen ⁴² C4014954 CN219643

UMLS ⁷² C4014954

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Summaries for Neutropenia, Severe Congenital, 6, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁴ 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 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
Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant
Acquired Neutropenia	Autosomal Recessive Severe Congenital Neutropenia

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

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	short stature ³²	occasional (7.5%)	HP:0004322
3	recurrent respiratory infections ³²		HP:0002205
4	recurrent otitis media ³²		HP:0000403
5	neutropenia ³²		HP:0001875
6	recurrent bacterial infections ³²		HP:0002718

Symptoms via clinical synopsis from OMIM:

⁵⁷

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 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, Myeloid

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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. ⁸ ⁷¹	Boztug K...Klein C	25129144	2014
2	[Application of subtractive hybridization in screening for colorectal cancer negatively related genes]. ³⁸	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	PubmedIds
1	JAGN1	Jagunal Homolog 1	Protein Coding	1678.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (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:

⁶ (show all 20)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	JAGN1	NM_032492.4(JAGN1): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs587777727	3:9932409-9932409	3:9890725-9890725
2	JAGN1	NM_032492.4(JAGN1): c.130C> T (p.His44Tyr)	single nucleotide variant	Pathogenic	rs587777728	3:9934639-9934639	3:9892955-9892955
3	JAGN1	NM_032492.4(JAGN1): c.63G> T (p.Glu21Asp)	single nucleotide variant	Pathogenic	rs587777729	3:9932469-9932469	3:9890785-9890785
4	JAGN1	NM_032492.4(JAGN1): c.485A> G (p.Gln162Arg)	single nucleotide variant	Pathogenic	rs587777730	3:9934994-9934994	3:9893310-9893310
5	JAGN1	NM_032492.4(JAGN1): c.35_43del (p.Thr12_Gly14del)	deletion	Pathogenic	rs587777731	3:9932441-9932449	3:9890757-9890765
6	JAGN1	NC_000003.11: g.(?_9932387)_(9935081_?)dup	duplication	Uncertain significance		3:9932387-9935081	3:9890703-9893397
7	JAGN1	NM_032492.4(JAGN1): c.71C> T (p.Ala24Val)	single nucleotide variant	Uncertain significance		3:9932477-9932477	3:9890793-9890793
8	JAGN1	NM_032492.4(JAGN1): c.11G> C (p.Arg4Pro)	single nucleotide variant	Uncertain significance		3:9932417-9932417	3:9890733-9890733
9	JAGN1	NM_032492.4(JAGN1): c.41G> A (p.Gly14Asp)	single nucleotide variant	Uncertain significance		3:9932447-9932447	3:9890763-9890763
10	JAGN1	NM_032492.4(JAGN1): c.46G> T (p.Asp16Tyr)	single nucleotide variant	Uncertain significance		3:9932452-9932452	3:9890768-9890768
11	JAGN1	NM_032492.4(JAGN1): c.433G> A (p.Val145Ile)	single nucleotide variant	Uncertain significance		3:9934942-9934942	3:9893258-9893258
12	JAGN1	NM_032492.4(JAGN1): c.541A> C (p.Lys181Gln)	single nucleotide variant	Uncertain significance	rs754191323	3:9935050-9935050	3:9893366-9893366
13	JAGN1	NM_032492.4(JAGN1): c.211C> A (p.Pro71Thr)	single nucleotide variant	Uncertain significance	rs200023062	3:9934720-9934720	3:9893036-9893036
14	JAGN1	NM_032492.4(JAGN1): c.172G> A (p.Gly58Arg)	single nucleotide variant	Uncertain significance	rs919986813	3:9934681-9934681	3:9892997-9892997
15	JAGN1	NM_032492.4(JAGN1): c.35C> T (p.Thr12Ile)	single nucleotide variant	Uncertain significance	rs150797085	3:9932441-9932441	3:9890757-9890757
16	JAGN1	NM_032492.4(JAGN1): c.270C> T (p.Leu90=)	single nucleotide variant	Likely benign	rs143617732	3:9934779-9934779	3:9893095-9893095
17	JAGN1	NM_032492.4(JAGN1): c.21G> C (p.Pro7=)	single nucleotide variant	Benign	rs138937423	3:9932427-9932427	3:9890743-9890743
18	JAGN1	NM_032492.4(JAGN1): c.403G> A (p.Ala135Thr)	single nucleotide variant	Benign	rs61746084	3:9934912-9934912	3:9893228-9893228
19	JAGN1	NM_032492.4(JAGN1): c.244A> G (p.Ile82Val)	single nucleotide variant	Benign	rs35365817	3:9934753-9934753	3:9893069-9893069
20	JAGN1	NM_032492.4(JAGN1): c.498C> T (p.Ser166=)	single nucleotide variant	Benign	rs61738795	3:9935007-9935007	3:9893323-9893323

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

⁷⁴

#	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

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

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

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