Neutropenia, Severe Congenital, 2, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Name: Neutropenia, Severe Congenital, 2, Autosomal Dominant ⁵⁷

Neutropenia, Severe Congenital 2, Autosomal Dominant ⁵⁷ ⁷⁴ ¹³

Severe Congenital Neutropenia 2, Autosomal Dominant ²⁹ ⁶

Scn2 ⁵⁷ ⁷⁴

Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant ⁴⁰

Neutropenia, Severe Congenital, Autosomal Dominant 2 ⁷²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

neutropenia, severe congenital, 2, autosomal dominant:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613107 PS202700

MeSH ⁴⁴ D009503

MedGen ⁴² C2751288

UMLS ⁷² C2751288

Sources

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷⁴ Neutropenia, severe congenital 2, autosomal dominant: 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, 2, Autosomal Dominant, is also known as neutropenia, severe congenital 2, autosomal dominant. An important gene associated with Neutropenia, Severe Congenital, 2, Autosomal Dominant is GFI1 (Growth Factor Independent 1 Transcriptional Repressor). Affiliated tissues include neutrophil and monocytes, and related phenotypes are neutropenia and b lymphocytopenia

More information from OMIM: 613107 PS202700

Sources

Related Diseases for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

Sources

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

³²

#	Description	HPO Source Accession
1	neutropenia ³²	HP:0001875
2	b lymphocytopenia ³²	HP:0010976
3	monocytosis ³²	HP:0012311

Symptoms via clinical synopsis from OMIM:

⁵⁷

Immunology:
elevated monocytes
low neutrophil number
immature neutrophils
immature monocytes
reduced absolute cell number of cd4 t lymphocytes
more

Clinical features from OMIM:

613107

Sources

Drugs & Therapeutics for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Sources

Genetic Tests for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Severe Congenital Neutropenia 2, Autosomal Dominant ²⁹	GFI1

Sources

Anatomical Context for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

⁴¹

Neutrophil, Monocytes

Sources

Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

(show all 13)

#	Title	Authors	PMID	Year
1	Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. ⁸ ⁷¹	Person RE...Horwitz M	12778173	2003
2	Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. ⁸	Karsunky H...Moroy T	11810106	2002
3	Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. ⁸	Bell DW...Testa JR	7789186	1995
4	Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. ³⁸	Negussie E...Lidauer MH	31155258	2019
5	Interaction of the early 3d transition metals Sc, Ti, V, and Cr with N2: an ab initio study. ³⁸	Kardahakis S...Mavridis A	16542078	2006
6	Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. ³⁸	Kawai F...Miyachi E	15623800	2005
7	Structure-activity relationships in platinum-acridinylthiourea conjugates: effect of the thiourea nonleaving group on drug stability, nucleobase affinity, and in vitro cytotoxicity. ³⁸	Ackley MC...Bierbach U	15067524	2004
8	Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. ³⁸	Kimata Y...Yanagida M	15126629	2004
9	Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. ³⁸	Niewa R...Leoni S	12953211	2003
10	Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. ³⁸	Levine A...Granot D	11551960	2001
11	Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. ³⁸	Samejima I...Yanagida M	7798319	1994
12	Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. ³⁸	Crabbe JC...Metten P	8974318	1994
13	Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. ³⁸	Muller WE...Heffner-Lauc M	7901042	1993

Sources

Genes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	1377.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	12778173

Sources

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

⁶ (show all 28)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	GFI1	NM_005263.5(GFI1): c.1145A> G (p.Asn382Ser)	single nucleotide variant	Pathogenic	rs28936381	1:92941710-92941710	1:92476153-92476153
2	GFI1	NM_005263.3(GFI1): c.925-8_925-5delCTCT	deletion	Conflicting interpretations of pathogenicity	rs35896485	1:92944315-92944318	1:92478758-92478761
3	GFI1	NM_005263.3(GFI1): c.925-14_925-5delCTCTCTCTCT	deletion	Conflicting interpretations of pathogenicity	rs35896485	1:92944315-92944324	1:92478758-92478767
4	GFI1	NM_005263.3(GFI1): c.925-18_925-5dupCTCTCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	1:92944315-92944328	1:92478758-92478771
5	GFI1	NM_005263.3(GFI1): c.925-12_925-5dupCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	1:92944315-92944322	1:92478758-92478765
6	GFI1	NM_005263.3(GFI1): c.925-14_925-5dupCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs35896485	1:92944315-92944324	1:92478758-92478767
7	GFI1	NM_005263.5(GFI1): c.477G> A (p.Pro159=)	single nucleotide variant	Uncertain significance		1:92946467-92946467	1:92480910-92480910
8	GFI1	NM_005263.5(GFI1): c.938A> G (p.Asp313Gly)	single nucleotide variant	Uncertain significance		1:92944297-92944297	1:92478740-92478740
9	GFI1	NM_005263.5(GFI1): c.854C> T (p.Ala285Val)	single nucleotide variant	Uncertain significance		1:92945975-92945975	1:92480418-92480418
10	GFI1	NM_005263.5(GFI1): c.682G> C (p.Gly228Arg)	single nucleotide variant	Uncertain significance		1:92946262-92946262	1:92480705-92480705
11	GFI1	NM_005263.5(GFI1): c.603C> T (p.Gly201=)	single nucleotide variant	Uncertain significance		1:92946341-92946341	1:92480784-92480784
12	GFI1	NM_005263.5(GFI1): c.440G> T (p.Arg147Leu)	single nucleotide variant	Uncertain significance		1:92946504-92946504	1:92480947-92480947
13	GFI1	NM_005263.5(GFI1): c.772A> G (p.Ile258Val)	single nucleotide variant	Uncertain significance	rs755193129	1:92946172-92946172	1:92480615-92480615
14	GFI1	NM_005263.5(GFI1): c.431C> G (p.Ala144Gly)	single nucleotide variant	Uncertain significance	rs533176227	1:92946513-92946513	1:92480956-92480956
15	GFI1	NM_005263.5(GFI1): c.319C> G (p.Pro107Ala)	single nucleotide variant	Likely benign	rs149914857	1:92946625-92946625	1:92481068-92481068
16	GFI1	NM_005263.5(GFI1): c.1032C> T (p.Tyr344=)	single nucleotide variant	Likely benign	rs139144506	1:92944203-92944203	1:92478646-92478646
17	GFI1	NM_005263.5(GFI1): c.804C> T (p.His268=)	single nucleotide variant	Likely benign	rs376949976	1:92946025-92946025	1:92480468-92480468
18	GFI1	NM_005263.5(GFI1): c.168C> T (p.Ser56=)	single nucleotide variant	Benign/Likely benign	rs143913803	1:92948551-92948551	1:92482994-92482994
19	GFI1	NM_005263.5(GFI1): c.792C> T (p.Phe264=)	single nucleotide variant	Benign/Likely benign	rs114487177	1:92946037-92946037	1:92480480-92480480
20	GFI1	NM_005263.5(GFI1): c.1047C> T (p.Phe349=)	single nucleotide variant	Benign/Likely benign	rs80337126	1:92944188-92944188	1:92478631-92478631
21	GFI1	NM_005263.5(GFI1): c.718G> C (p.Glu240Gln)	single nucleotide variant	Benign/Likely benign	rs6666973	1:92946226-92946226	1:92480669-92480669
22	GFI1	NM_005263.5(GFI1): c.648A> G (p.Ala216=)	single nucleotide variant	Benign	rs114464352	1:92946296-92946296	1:92480739-92480739
23	GFI1	NM_005263.5(GFI1): c.1198C> T (p.Leu400Phe)	single nucleotide variant	Benign	rs143708376	1:92941657-92941657	1:92476100-92476100
24	GFI1	NM_005263.4(GFI1): c.925-12_925-5delCTCTCTCT	deletion	Benign	rs35896485	1:92944315-92944322	1:92478758-92478765
25	GFI1	NM_005263.5(GFI1): c.483T> C (p.Pro161=)	single nucleotide variant	Benign	rs374062963	1:92946461-92946461	1:92480904-92480904
26	GFI1	NM_005263.5(GFI1): c.107G> A (p.Ser36Asn)	single nucleotide variant	Benign	rs34631763	1:92948938-92948938	1:92483381-92483381
27	GFI1	NM_005263.5(GFI1): c.-14A> C	single nucleotide variant	Benign	rs200972824	1:92949058-92949058	1:92483501-92483501
28	GFI1	NM_005263.4(GFI1): c.925-20_925-5dup	duplication	Benign	rs35896485	1:92944315-92944330	1:92478758-92478773

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	GFI1	p.Asn382Ser	VAR_016212	rs28936381

Sources

Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 2, Autosomal Dominant.

Sources

Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Sources

GO Terms for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Sources

Sources for Neutropenia, Severe Congenital, 2, Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Neutropenia, Severe Congenital, 2, Autosomal Dominant (SCN2)

Aliases & Classifications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Related Diseases for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Diseases in the Neutropenia family:

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic Tests for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Anatomical Context for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Genes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant (1 elite genes):

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

GO Terms for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Sources for Neutropenia, Severe Congenital, 2, Autosomal Dominant