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 57 59 75 29 13 6 40 73
Neuid 75

Characteristics:

Orphanet epidemiological data:

59
neutrophil immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 608203
Orphanet 59 ORPHA183707
ICD10 via Orphanet 34 D71
UMLS via Orphanet 74 C1842398
MedGen 42 C1842398
MeSH 44 D007153
SNOMED-CT via HPO 69 111583006 234532001
UMLS 73 C1842398

Summaries for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot : 75 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 : 76 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

Clinical features from OMIM:

608203

Human phenotypes related to Neutrophil Immunodeficiency Syndrome:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
2 leukocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001974
3 poor wound healing 59 32 hallmark (90%) Very frequent (99-80%) HP:0001058
4 abnormality of neutrophil physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0011990

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 29 RAC2

Anatomical Context for Neutrophil Immunodeficiency Syndrome

MalaCards organs/tissues related to Neutrophil Immunodeficiency Syndrome:

41
Neutrophil

Publications for Neutrophil Immunodeficiency Syndrome

Articles related to Neutrophil Immunodeficiency Syndrome:

# Title Authors Year
1
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:

75
# 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.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 37628882: 37628882
6 RAC2 NM_002872.4(RAC2): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 37232842: 37232842
7 RAC2 NM_002872.4(RAC2): c.501C> T (p.Thr167=) single nucleotide variant Benign rs79799102 GRCh38 Chromosome 22, 37226751: 37226751
8 RAC2 NM_002872.4(RAC2): c.501C> T (p.Thr167=) single nucleotide variant Benign rs79799102 GRCh37 Chromosome 22, 37622791: 37622791
9 RAC2 NM_002872.4(RAC2): c.545C> T (p.Thr182Met) single nucleotide variant Uncertain significance rs141308774 GRCh38 Chromosome 22, 37226707: 37226707
10 RAC2 NM_002872.4(RAC2): c.545C> T (p.Thr182Met) single nucleotide variant Uncertain significance rs141308774 GRCh37 Chromosome 22, 37622747: 37622747

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 11.65 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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