NEUID
MCID: NTR006
MIFTS: 25

Neutrophil Immunodeficiency Syndrome (NEUID)

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

Aliases & Classifications for Neutrophil Immunodeficiency Syndrome

MalaCards integrated aliases for Neutrophil Immunodeficiency Syndrome:

Name: Neutrophil Immunodeficiency Syndrome 58 60 76 30 13 6 41 74
Neuid 76

Characteristics:

Orphanet epidemiological data:

60
neutrophil immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 608203
MeSH 45 D007153
ICD10 via Orphanet 35 D71
UMLS via Orphanet 75 C1842398
Orphanet 60 ORPHA183707
MedGen 43 C1842398
UMLS 74 C1842398

Summaries for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot : 76 Neutrophil immunodeficiency syndrome: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing.

MalaCards based summary : Neutrophil Immunodeficiency Syndrome, is also known as neuid. An important gene associated with Neutrophil Immunodeficiency Syndrome is RAC2 (Rac Family Small GTPase 2), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. Affiliated tissues include neutrophil, and related phenotypes are immunodeficiency and leukocytosis

Wikipedia : 77 Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2... more...

Description from OMIM: 608203

Related Diseases for Neutrophil Immunodeficiency Syndrome

Symptoms & Phenotypes for Neutrophil Immunodeficiency Syndrome

Human phenotypes related to Neutrophil Immunodeficiency Syndrome:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
2 leukocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001974
3 poor wound healing 60 33 hallmark (90%) Very frequent (99-80%) HP:0001058
4 abnormality of neutrophil physiology 60 33 hallmark (90%) Very frequent (99-80%) HP:0011990
5 neutrophilia 33 HP:0011897
6 rectal abscess 33 HP:0005224
7 impaired oxidative burst 33 HP:0003203
8 reduction of neutrophil motility 33 HP:0005400
9 urachal cyst 33 HP:0012618

Clinical features from OMIM:

608203

Drugs & Therapeutics for Neutrophil Immunodeficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Neutrophil Immunodeficiency Syndrome

Genetic Tests for Neutrophil Immunodeficiency Syndrome

Genetic tests related to Neutrophil Immunodeficiency Syndrome:

# Genetic test Affiliating Genes
1 Neutrophil Immunodeficiency Syndrome 30 RAC2

Anatomical Context for Neutrophil Immunodeficiency Syndrome

MalaCards organs/tissues related to Neutrophil Immunodeficiency Syndrome:

42
Neutrophil

Publications for Neutrophil Immunodeficiency Syndrome

Articles related to Neutrophil Immunodeficiency Syndrome:

# Title Authors Year
1
Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. ( 10961859 )
2000
2
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. ( 10758162 )
2000

Variations for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Neutrophil Immunodeficiency Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 RAC2 p.Asp57Asn VAR_017452 rs74315507

ClinVar genetic disease variations for Neutrophil Immunodeficiency Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAC2 NM_002872.4(RAC2): c.169G> A (p.Asp57Asn) single nucleotide variant Pathogenic rs74315507 GRCh37 Chromosome 22, 37628897: 37628897
2 RAC2 NM_002872.4(RAC2): c.169G> A (p.Asp57Asn) single nucleotide variant Pathogenic rs74315507 GRCh38 Chromosome 22, 37232857: 37232857
3 RAC2 NM_002872.4(RAC2): c.252C> T (p.Leu84=) single nucleotide variant Benign rs2230919 GRCh37 Chromosome 22, 37628008: 37628008
4 RAC2 NM_002872.4(RAC2): c.252C> T (p.Leu84=) single nucleotide variant Benign rs2230919 GRCh38 Chromosome 22, 37231968: 37231968
5 RAC2 NM_002872.4(RAC2): c.501C> T (p.Thr167=) single nucleotide variant Benign rs79799102 GRCh38 Chromosome 22, 37226751: 37226751
6 RAC2 NM_002872.4(RAC2): c.501C> T (p.Thr167=) single nucleotide variant Benign rs79799102 GRCh37 Chromosome 22, 37622791: 37622791
7 RAC2 NM_002872.4(RAC2): c.545C> T (p.Thr182Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 37622747: 37622747
8 RAC2 NM_002872.4(RAC2): c.545C> T (p.Thr182Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 37226707: 37226707
9 RAC2 NM_002872.4(RAC2): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1555908409 GRCh38 Chromosome 22, 37232842: 37232842
10 RAC2 NM_002872.4(RAC2): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1555908409 GRCh37 Chromosome 22, 37628882: 37628882

Expression for Neutrophil Immunodeficiency Syndrome

Search GEO for disease gene expression data for Neutrophil Immunodeficiency Syndrome.

Pathways for Neutrophil Immunodeficiency Syndrome

Pathways related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 RAC2 RHOD
2
Show member pathways
12.47 RAC2 RHOD
3
Show member pathways
12.44 RAC2 RHOD
4
Show member pathways
12.4 RAC2 RHOD
5
Show member pathways
12.34 RAC2 RHOD
6
Show member pathways
12.31 RAC2 RHOD
7
Show member pathways
12.29 RAC2 RHOD
8
Show member pathways
12.26 RAC2 RHOD
9
Show member pathways
11.84 RAC2 RHOD
10
Show member pathways
11.79 RAC2 RHOD
11 11.66 RAC2 RHOD
12
Show member pathways
11.44 RAC2 RHOD
13
Show member pathways
11.39 RAC2 RHOD
14 11.35 RAC2 RHOD
15 11.32 RAC2 RHOD
16
Show member pathways
10.89 RAC2 RHOD
17 10.89 RAC2 RHOD
18 10.86 RAC2 RHOD
19 10.41 RAC2 RHOD
20 10.28 RAC2 RHOD

GO Terms for Neutrophil Immunodeficiency Syndrome

Biological processes related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of small GTPase mediated signal transduction GO:0051056 9.26 RAC2 RHOD
2 small GTPase mediated signal transduction GO:0007264 9.16 RAC2 RHOD
3 actin filament organization GO:0007015 8.96 RAC2 RHOD
4 Rho protein signal transduction GO:0007266 8.62 RAC2 RHOD

Molecular functions related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 8.96 RAC2 RHOD
2 GTPase activity GO:0003924 8.62 RAC2 RHOD

Sources for Neutrophil Immunodeficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....