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 ⁵⁶ ⁷¹

Severe Congenital Neutropenia 6, Autosomal Recessive ²⁹ ⁶

Scn6 ⁵⁶ ⁷³

Autosomal Recessive Severe Congenital Neutropenia Due to Jagn1 Deficiency ⁵⁸

Neutropenia, Severe Congenital, Type 6, Autosomal Recessive ³⁹

Neutropenia, Severe Congenital 6, Autosomal Recessive ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

neutropenia, severe congenital, 6, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Neuronal diseases Bone diseases Immune 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 ⁵⁶ 616022

OMIM Phenotypic Series ⁵⁶ PS202700

MeSH ⁴³ D009503

ICD10 via Orphanet ³³ D70

Orphanet ⁵⁸ ORPHA423384

MedGen ⁴¹ C4014954 CN219643

SNOMED-CT via HPO ⁶⁸ 165517008 237836003 258211005 more

UMLS ⁷¹ C4014954

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Summaries for Neutropenia, Severe Congenital, 6, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷³ 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 bone marrow, 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	Severe Congenital Neutropenia
Elane-Related 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:

³¹ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	failure to thrive ³¹	occasional (7.5%)	HP:0001508
2	short stature ³¹	occasional (7.5%)	HP:0004322
3	recurrent respiratory infections ³¹		HP:0002205
4	recurrent otitis media ³¹		HP:0000403
5	neutropenia ³¹		HP:0001875
6	recurrent bacterial infections ³¹		HP:0002718

Symptoms via clinical synopsis from OMIM:

⁵⁶

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:

⁴⁰

Neutrophil, Bone, Bone Marrow, Skin, 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. ⁵⁶ ⁶	Boztug K...Klein C	25129144	2014
2	[Application of subtractive hybridization in screening for colorectal cancer negatively related genes]. ⁶¹	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	1668.45	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ 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 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	JAGN1	NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	SNV	Pathogenic	156113	rs587777727	3:9932409-9932409	3:9890725-9890725
2	JAGN1	NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	SNV	Pathogenic	156114	rs587777728	3:9934639-9934639	3:9892955-9892955
3	JAGN1	NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	SNV	Pathogenic	156115	rs587777729	3:9932469-9932469	3:9890785-9890785
4	JAGN1	NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	SNV	Pathogenic	156116	rs587777730	3:9934994-9934994	3:9893310-9893310
5	JAGN1	NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	deletion	Pathogenic	156117	rs587777731	3:9932436-9932444	3:9890752-9890760
6	JAGN1	NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile)	SNV	Uncertain significance	475247	rs150797085	3:9932441-9932441	3:9890757-9890757
7	JAGN1	NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln)	SNV	Uncertain significance	475249	rs754191323	3:9935050-9935050	3:9893366-9893366
8	JAGN1	NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr)	SNV	Uncertain significance	475244	rs200023062	3:9934720-9934720	3:9893036-9893036
9	JAGN1	NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg)	SNV	Uncertain significance	475243	rs919986813	3:9934681-9934681	3:9892997-9892997
10	JAGN1	NC_000003.11:g.(?_9932387)_(9935081_?)dup	duplication	Uncertain significance	584197		3:9932387-9935081	3:9890703-9893397
11	JAGN1	NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)	SNV	Uncertain significance	577875	rs377495463	3:9932477-9932477	3:9890793-9890793
12	JAGN1	NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro)	SNV	Uncertain significance	666030		3:9932417-9932417	3:9890733-9890733
13	JAGN1	NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp)	SNV	Uncertain significance	649136		3:9932447-9932447	3:9890763-9890763
14	JAGN1	NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr)	SNV	Uncertain significance	658417		3:9932452-9932452	3:9890768-9890768
15	JAGN1	NM_032492.4(JAGN1):c.433G>A (p.Val145Ile)	SNV	Uncertain significance	649445		3:9934942-9934942	3:9893258-9893258
16	JAGN1	NM_032492.4(JAGN1):c.244A>G (p.Ile82Val)	SNV	Benign	475246	rs35365817	3:9934753-9934753	3:9893069-9893069
17	JAGN1	NM_032492.4(JAGN1):c.21G>C (p.Pro7=)	SNV	Benign	475245	rs138937423	3:9932427-9932427	3:9890743-9890743

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

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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