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

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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 ⁵⁶

Neutropenia, Severe Congenital 2, Autosomal Dominant ⁵⁶ ⁷³ ¹³

Severe Congenital Neutropenia 2, Autosomal Dominant ²⁹ ⁶

Scn2 ⁵⁶ ⁷³

Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant ³⁹

Neutropenia, Severe Congenital, Autosomal Dominant 2 ⁷¹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
some patients may have cyclic neutropenia
one family and 1 unrelated patient with sporadic disease have been reported (last curated february 2020)

HPO:

³¹

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

External Ids:

OMIM ⁵⁶ 613107

OMIM Phenotypic Series ⁵⁶ PS202700

MeSH ⁴³ D009503

MedGen ⁴¹ C2751288

SNOMED-CT via HPO ⁶⁸ 165517008 19636003 263681008

UMLS ⁷¹ C2751288

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Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot : ⁷³ 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, t cells and monocytes, and related phenotypes are neutropenia and b lymphocytopenia

More information from OMIM: 613107 PS202700

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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
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Severe Congenital Neutropenia
Severe Congenital Neutropenia 1	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, 2, Autosomal Dominant

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

³¹

#	Description	HPO Source Accession
1	neutropenia ³¹	HP:0001875
2	b lymphocytopenia ³¹	HP:0010976
3	monocytosis ³¹	HP:0012311

Symptoms via clinical synopsis from OMIM:

⁵⁶

Immunology:
elevated monocytes
low neutrophil number
immature neutrophils
immature monocytes
reduced absolute cell number of cd4 t lymphocytes (in some patients)
more

Clinical features from OMIM:

613107

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

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

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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

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

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

⁴⁰

Neutrophil, T Cells, Monocytes, Brain

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Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

(show all 15)

#	Title	Authors	PMID	Year
1	Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE. ⁵⁶ ⁶	Armistead PM...Molldrem J	20560965	2010
2	Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. ⁵⁶ ⁶	Person RE...Horwitz M	12778173	2003
3	Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. ⁵⁶	Karsunky H...Moroy T	11810106	2002
4	Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. ⁵⁶	Bell DW...Testa JR	7789186	1995
5	Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. ⁶¹	Du J...Lal D	31928904	2020
6	Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. ⁶¹	Negussie E...Lidauer MH	31155258	2019
7	Interaction of the early 3d transition metals Sc, Ti, V, and Cr with N2: an ab initio study. ⁶¹	Kardahakis S...Mavridis A	16542078	2006
8	Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. ⁶¹	Kawai F...Miyachi E	15623800	2005
9	Structure-activity relationships in platinum-acridinylthiourea conjugates: effect of the thiourea nonleaving group on drug stability, nucleobase affinity, and in vitro cytotoxicity. ⁶¹	Ackley MC...Bierbach U	15067524	2004
10	Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. ⁶¹	Kimata Y...Yanagida M	15126629	2004
11	Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. ⁶¹	Niewa R...Leoni S	12953211	2003
12	Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. ⁶¹	Levine A...Granot D	11551960	2001
13	Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. ⁶¹	Samejima I...Yanagida M	7798319	1994
14	Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. ⁶¹	Crabbe JC...Metten P	8974318	1994
15	Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. ⁶¹	Muller WE...Heffner-Lauc M	7901042	1993

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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	1317.37	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	20560965 12778173

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Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

⁶ (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GFI1	NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)	SNV	Pathogenic	8739	rs28936381	1:92941710-92941710	1:92476153-92476153
2	GFI1	NM_005263.5(GFI1):c.925-40CT[23]	short repeat	Conflicting interpretations of pathogenicity	298183	rs35896485	1:92944314-92944315	1:92478757-92478758
3	GFI1	NM_005263.5(GFI1):c.925-40CT[16]	short repeat	Conflicting interpretations of pathogenicity	298184	rs35896485	1:92944315-92944318	1:92478758-92478761
4	GFI1	NM_005263.5(GFI1):c.925-40CT[13]	short repeat	Conflicting interpretations of pathogenicity	298186	rs35896485	1:92944315-92944324	1:92478758-92478767
5	GFI1	NM_005263.5(GFI1):c.925-40CT[25]	short repeat	Conflicting interpretations of pathogenicity	298181	rs35896485	1:92944314-92944315	1:92478757-92478758
6	GFI1	NM_005263.5(GFI1):c.925-40CT[22]	short repeat	Conflicting interpretations of pathogenicity	298180	rs35896485	1:92944314-92944315	1:92478757-92478758
7	GFI1	NM_005263.5(GFI1):c.571G>A (p.Ala191Thr)	SNV	Uncertain significance	840484		1:92946373-92946373	1:92480816-92480816
8	GFI1	NM_005263.5(GFI1):c.534G>T (p.Gly178=)	SNV	Uncertain significance	840261		1:92946410-92946410	1:92480853-92480853
9	GFI1	NM_005263.5(GFI1):c.191C>A (p.Ala64Asp)	SNV	Uncertain significance	834993		1:92948528-92948528	1:92482971-92482971
10	GFI1	NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys)	SNV	Uncertain significance	864714		1:92948971-92948971	1:92483414-92483414
11	GFI1	NM_005263.5(GFI1):c.431C>G (p.Ala144Gly)	SNV	Uncertain significance	435318	rs533176227	1:92946513-92946513	1:92480956-92480956
12	GFI1	NM_005263.5(GFI1):c.477G>A (p.Pro159=)	SNV	Uncertain significance	581490	rs1249429892	1:92946467-92946467	1:92480910-92480910
13	GFI1	NM_005263.5(GFI1):c.938A>G (p.Asp313Gly)	SNV	Uncertain significance	566000	rs376042061	1:92944297-92944297	1:92478740-92478740
14	GFI1	NM_005263.5(GFI1):c.854C>T (p.Ala285Val)	SNV	Uncertain significance	644949		1:92945975-92945975	1:92480418-92480418
15	GFI1	NM_005263.5(GFI1):c.682G>C (p.Gly228Arg)	SNV	Uncertain significance	643828		1:92946262-92946262	1:92480705-92480705
16	GFI1	NM_005263.5(GFI1):c.603C>T (p.Gly201=)	SNV	Uncertain significance	643429		1:92946341-92946341	1:92480784-92480784
17	GFI1	NM_005263.5(GFI1):c.440G>T (p.Arg147Leu)	SNV	Uncertain significance	644864		1:92946504-92946504	1:92480947-92480947
18	GFI1	NM_005263.5(GFI1):c.498G>A (p.Ala166=)	SNV	Likely benign	721524		1:92946446-92946446	1:92480889-92480889
19	GFI1	NM_005263.5(GFI1):c.83G>A (p.Arg28His)	SNV	Likely benign	724166		1:92948962-92948962	1:92483405-92483405
20	GFI1	NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)	SNV	Likely benign	801501		1:92941605-92941605	1:92476048-92476048
21	GFI1	NM_005263.5(GFI1):c.-100+686C>A	SNV	Likely benign	801502		1:92951597-92951597	1:92486040-92486040
22	GFI1	NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)	SNV	Likely benign	8740	rs28936382	1:92941647-92941647	1:92476090-92476090
23	GFI1	NM_005263.5(GFI1):c.1032C>T (p.Tyr344=)	SNV	Likely benign	298178	rs139144506	1:92944203-92944203	1:92478646-92478646
24	GFI1	NM_005263.5(GFI1):c.319C>G (p.Pro107Ala)	SNV	Likely benign	259703	rs149914857	1:92946625-92946625	1:92481068-92481068
25	GFI1	NM_005263.5(GFI1):c.168C>T (p.Ser56=)	SNV	Benign/Likely benign	259702	rs143913803	1:92948551-92948551	1:92482994-92482994
26	GFI1	NM_005263.5(GFI1):c.792C>T (p.Phe264=)	SNV	Benign/Likely benign	298188	rs114487177	1:92946037-92946037	1:92480480-92480480
27	GFI1	NM_005263.5(GFI1):c.1047C>T (p.Phe349=)	SNV	Benign/Likely benign	259698	rs80337126	1:92944188-92944188	1:92478631-92478631
28	GFI1	NM_005263.5(GFI1):c.718G>C (p.Glu240Gln)	SNV	Benign/Likely benign	259705	rs6666973	1:92946226-92946226	1:92480669-92480669
29	GFI1	NM_005263.5(GFI1):c.-14A>C	SNV	Benign/Likely benign	538142	rs200972824	1:92949058-92949058	1:92483501-92483501
30	GFI1	NM_005263.5(GFI1):c.1188C>T (p.Phe396=)	SNV	Benign/Likely benign	298177	rs374783582	1:92941667-92941667	1:92476110-92476110
31	GFI1	NM_005263.5(GFI1):c.925-40CT[26]	short repeat	Benign	538141	rs35896485	1:92944314-92944315	1:92478757-92478758
32	GFI1	NM_005263.5(GFI1):c.925-40CT[12]	short repeat	Benign	722828		1:92944315-92944326	1:92478758-92478769
33	GFI1	NM_005263.5(GFI1):c.1239G>A (p.Arg413=)	SNV	Benign	759202		1:92941616-92941616	1:92476059-92476059
34	GFI1	NM_005263.5(GFI1):c.925-40CT[24]	short repeat	Benign	770490		1:92944314-92944315	1:92478757-92478758
35	GFI1	NM_005263.5(GFI1):c.925-40CT[27]	short repeat	Benign	788327		1:92944314-92944315	1:92478757-92478758
36	GFI1	NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCC	insertion	Benign	800061		1:92944314-92944315	1:92478757-92478758
37	GFI1	NM_005263.5(GFI1):c.1245G>C (p.Arg415=)	SNV	Benign	733198		1:92941610-92941610	1:92476053-92476053
38	GFI1	NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)	SNV	Benign	470694	rs143708376	1:92941657-92941657	1:92476100-92476100
39	GFI1	NM_005263.5(GFI1):c.925-40CT[14]	short repeat	Benign	470696	rs35896485	1:92944315-92944322	1:92478758-92478765
40	GFI1	NM_005263.5(GFI1):c.483T>C (p.Pro161=)	SNV	Benign	470695	rs374062963	1:92946461-92946461	1:92480904-92480904
41	GFI1	NM_005263.5(GFI1):c.648A>G (p.Ala216=)	SNV	Benign	259704	rs114464352	1:92946296-92946296	1:92480739-92480739
42	GFI1	NM_005263.5(GFI1):c.107G>A (p.Ser36Asn)	SNV	Benign	259699	rs34631763	1:92948938-92948938	1:92483381-92483381

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

⁷³

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

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Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

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Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

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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