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

MCID: NTR051 MIFTS: 21	Neutropenia, Severe Congenital, 2, Autosomal Dominant Categories: Genetic diseases, Rare diseases, Blood diseases, Bone diseases, Immune diseases, Nephrological diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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 ⁷⁵ ¹³

Severe Congenital Neutropenia 2, Autosomal Dominant ²⁹ ⁶

Scn2 ⁵⁷ ⁷⁵

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

Neutropenia, Severe Congenital, Autosomal Dominant 2 ⁷³

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
Anatomical: Blood diseases Bone diseases Immune diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613107

MedGen ⁴² C2751288

MeSH ⁴⁴ D009503

SNOMED-CT via HPO ⁶⁹ 263681008 89655007 19636003

UMLS ⁷³ C2751288

Sources

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷⁵ 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 congenital neutropenia and b lymphocytopenia

Description from OMIM: 613107

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	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

Sources

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

613107

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

³²

#	Description	HPO Source Accession
1	congenital neutropenia ³²	HP:0005549
2	b lymphocytopenia ³²	HP:0010976
3	monocytosis ³²	HP:0012311

Sources

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

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)	Recruiting	NCT01238250

Search 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

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	1377.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	12778173

Sources

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

⁷⁵

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

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

⁶

(show all 42)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GFI1	NM_005263.3(GFI1): c.1145A> G (p.Asn382Ser)	single nucleotide variant	Pathogenic	rs28936381	GRCh37	Chromosome 1, 92941710: 92941710
2	GFI1	NM_005263.3(GFI1): c.1145A> G (p.Asn382Ser)	single nucleotide variant	Pathogenic	rs28936381	GRCh38	Chromosome 1, 92476153: 92476153
3	GFI1	NM_005263.3(GFI1): c.1047C> T (p.Phe349=)	single nucleotide variant	Benign/Likely benign	rs80337126	GRCh38	Chromosome 1, 92478631: 92478631
4	GFI1	NM_005263.3(GFI1): c.1047C> T (p.Phe349=)	single nucleotide variant	Benign/Likely benign	rs80337126	GRCh37	Chromosome 1, 92944188: 92944188
5	GFI1	NM_005263.3(GFI1): c.718G> C (p.Glu240Gln)	single nucleotide variant	Benign/Likely benign	rs6666973	GRCh38	Chromosome 1, 92480669: 92480669
6	GFI1	NM_005263.3(GFI1): c.718G> C (p.Glu240Gln)	single nucleotide variant	Benign/Likely benign	rs6666973	GRCh37	Chromosome 1, 92946226: 92946226
7	GFI1	NM_005263.3(GFI1): c.648A> G (p.Ala216=)	single nucleotide variant	Benign	rs114464352	GRCh38	Chromosome 1, 92480739: 92480739
8	GFI1	NM_005263.3(GFI1): c.648A> G (p.Ala216=)	single nucleotide variant	Benign	rs114464352	GRCh37	Chromosome 1, 92946296: 92946296
9	GFI1	NM_005263.3(GFI1): c.319C> G (p.Pro107Ala)	single nucleotide variant	Likely benign	rs149914857	GRCh38	Chromosome 1, 92481068: 92481068
10	GFI1	NM_005263.3(GFI1): c.319C> G (p.Pro107Ala)	single nucleotide variant	Likely benign	rs149914857	GRCh37	Chromosome 1, 92946625: 92946625
11	GFI1	NM_005263.3(GFI1): c.168C> T (p.Ser56=)	single nucleotide variant	Benign/Likely benign	rs143913803	GRCh37	Chromosome 1, 92948551: 92948551
12	GFI1	NM_005263.3(GFI1): c.168C> T (p.Ser56=)	single nucleotide variant	Benign/Likely benign	rs143913803	GRCh38	Chromosome 1, 92482994: 92482994
13	GFI1	NM_005263.3(GFI1): c.107G> A (p.Ser36Asn)	single nucleotide variant	Benign	rs34631763	GRCh38	Chromosome 1, 92483381: 92483381
14	GFI1	NM_005263.3(GFI1): c.107G> A (p.Ser36Asn)	single nucleotide variant	Benign	rs34631763	GRCh37	Chromosome 1, 92948938: 92948938
15	GFI1	NM_005263.3(GFI1): c.925-14_925-5dupCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs371078453	GRCh37	Chromosome 1, 92944315: 92944324
16	GFI1	NM_005263.3(GFI1): c.925-14_925-5dupCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs371078453	GRCh38	Chromosome 1, 92478758: 92478767
17	GFI1	NM_005263.3(GFI1): c.1032C> T (p.Tyr344=)	single nucleotide variant	Likely benign	rs139144506	GRCh38	Chromosome 1, 92478646: 92478646
18	GFI1	NM_005263.3(GFI1): c.1032C> T (p.Tyr344=)	single nucleotide variant	Likely benign	rs139144506	GRCh37	Chromosome 1, 92944203: 92944203
19	GFI1	NM_005263.3(GFI1): c.925-8_925-5delCTCT	deletion	Conflicting interpretations of pathogenicity	rs886046555	GRCh38	Chromosome 1, 92478758: 92478761
20	GFI1	NM_005263.3(GFI1): c.925-8_925-5delCTCT	deletion	Conflicting interpretations of pathogenicity	rs886046555	GRCh37	Chromosome 1, 92944315: 92944318
21	GFI1	NM_005263.3(GFI1): c.925-14_925-5delCTCTCTCTCT	deletion	Conflicting interpretations of pathogenicity	rs376338971	GRCh37	Chromosome 1, 92944315: 92944324
22	GFI1	NM_005263.3(GFI1): c.925-14_925-5delCTCTCTCTCT	deletion	Conflicting interpretations of pathogenicity	rs376338971	GRCh38	Chromosome 1, 92478758: 92478767
23	GFI1	NM_005263.3(GFI1): c.925-18_925-5dupCTCTCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs371078453	GRCh37	Chromosome 1, 92944315: 92944328
24	GFI1	NM_005263.3(GFI1): c.925-18_925-5dupCTCTCTCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs371078453	GRCh38	Chromosome 1, 92478758: 92478771
25	GFI1	NM_005263.3(GFI1): c.792C> T (p.Phe264=)	single nucleotide variant	Benign/Likely benign	rs114487177	GRCh37	Chromosome 1, 92946037: 92946037
26	GFI1	NM_005263.3(GFI1): c.792C> T (p.Phe264=)	single nucleotide variant	Benign/Likely benign	rs114487177	GRCh38	Chromosome 1, 92480480: 92480480
27	GFI1	NM_005263.3(GFI1): c.925-12_925-5dupCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs371078453	GRCh38	Chromosome 1, 92478758: 92478765
28	GFI1	NM_005263.3(GFI1): c.925-12_925-5dupCTCTCTCT	duplication	Conflicting interpretations of pathogenicity	rs371078453	GRCh37	Chromosome 1, 92944315: 92944322
29	GFI1	NM_005263.4(GFI1): c.1198C> T (p.Leu400Phe)	single nucleotide variant	Benign	rs143708376	GRCh37	Chromosome 1, 92941657: 92941657
30	GFI1	NM_005263.4(GFI1): c.1198C> T (p.Leu400Phe)	single nucleotide variant	Benign	rs143708376	GRCh38	Chromosome 1, 92476100: 92476100
31	GFI1	NM_005263.4(GFI1): c.925-12_925-5delCTCTCTCT	deletion	Benign		GRCh37	Chromosome 1, 92944315: 92944322
32	GFI1	NM_005263.4(GFI1): c.925-12_925-5delCTCTCTCT	deletion	Benign		GRCh38	Chromosome 1, 92478758: 92478765
33	GFI1	NM_005263.4(GFI1): c.483T> C (p.Pro161=)	single nucleotide variant	Benign	rs374062963	GRCh37	Chromosome 1, 92946461: 92946461
34	GFI1	NM_005263.4(GFI1): c.483T> C (p.Pro161=)	single nucleotide variant	Benign	rs374062963	GRCh38	Chromosome 1, 92480904: 92480904
35	GFI1	NM_005263.4(GFI1): c.804C> T (p.His268=)	single nucleotide variant	Likely benign	rs376949976	GRCh37	Chromosome 1, 92946025: 92946025
36	GFI1	NM_005263.4(GFI1): c.804C> T (p.His268=)	single nucleotide variant	Likely benign	rs376949976	GRCh38	Chromosome 1, 92480468: 92480468
37	GFI1	NM_005263.4(GFI1): c.772A> G (p.Ile258Val)	single nucleotide variant	Uncertain significance	rs755193129	GRCh38	Chromosome 1, 92480615: 92480615
38	GFI1	NM_005263.4(GFI1): c.772A> G (p.Ile258Val)	single nucleotide variant	Uncertain significance	rs755193129	GRCh37	Chromosome 1, 92946172: 92946172
39	GFI1	NM_005263.4(GFI1): c.-14A> C	single nucleotide variant	Benign	rs200972824	GRCh37	Chromosome 1, 92949058: 92949058
40	GFI1	NM_005263.4(GFI1): c.-14A> C	single nucleotide variant	Benign	rs200972824	GRCh38	Chromosome 1, 92483501: 92483501
41	GFI1	NM_005263.4(GFI1): c.925-20_925-5dup	duplication	Benign		GRCh38	Chromosome 1, 92478758: 92478773
42	GFI1	NM_005263.4(GFI1): c.925-20_925-5dup	duplication	Benign		GRCh37	Chromosome 1, 92944315: 92944330

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 ExPASy

¹⁸ FDA Approved Drugs

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia