MCID: NTR051
MIFTS: 21

Neutropenia, Severe Congenital, 2, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Blood diseases, Bone diseases, Immune diseases, Nephrological diseases

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:



External Ids:

OMIM 57 613107
MedGen 42 C2751288
MeSH 44 D009503
SNOMED-CT via HPO 69 263681008 89655007 19636003
UMLS 73 C2751288

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

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

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

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

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

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

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

41
Neutrophil, Monocytes

Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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

Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Search GEO for disease gene expression data 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

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