MCID: CD3001
MIFTS: 18

Cd3zeta Deficiency

Categories: Immune diseases

Aliases & Classifications for Cd3zeta Deficiency

MalaCards integrated aliases for Cd3zeta Deficiency:

Name: Cd3zeta Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060007

Summaries for Cd3zeta Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that affects the development and function of T cells.

MalaCards based summary : Cd3zeta Deficiency is related to t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta and immunodeficiency 19. An important gene associated with Cd3zeta Deficiency is CD247 (CD247 Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include t cells, and related phenotype is immune system.

Related Diseases for Cd3zeta Deficiency

Diseases related to Cd3zeta Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 9.9 CD3D CD247
2 immunodeficiency 19 9.7 CD3G CD3D
3 immunodeficiency 17 9.7 CD3G CD3D
4 immunodeficiency 18 9.6 CD3G CD3D CD247
5 severe combined immunodeficiency 9.5 CD3G CD3D CD247
6 omenn syndrome 9.5 CD3G CD3D
7 aplastic anemia 8.9 NCR1 CD3G CD3D CD247

Graphical network of the top 20 diseases related to Cd3zeta Deficiency:



Diseases related to Cd3zeta Deficiency

Symptoms & Phenotypes for Cd3zeta Deficiency

MGI Mouse Phenotypes related to Cd3zeta Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 CD247 CD3D CD3G GLIS2 NCR1 SLA

Drugs & Therapeutics for Cd3zeta Deficiency

Search Clinical Trials , NIH Clinical Center for Cd3zeta Deficiency

Genetic Tests for Cd3zeta Deficiency

Anatomical Context for Cd3zeta Deficiency

MalaCards organs/tissues related to Cd3zeta Deficiency:

40
T Cells

Publications for Cd3zeta Deficiency

Articles related to Cd3zeta Deficiency:

# Title Authors PMID Year
1
T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. 61
17170122 2007

Variations for Cd3zeta Deficiency

Expression for Cd3zeta Deficiency

Search GEO for disease gene expression data for Cd3zeta Deficiency.

Pathways for Cd3zeta Deficiency

Pathways related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 NCR1 CD3G CD3D CD247
2
Show member pathways
12.65 CD3G CD3D CD247
3
Show member pathways
12.63 CD3G CD3D CD247
4
Show member pathways
12.61 CD3G CD3D CD247
5
Show member pathways
12.58 CD3G CD3D CD247
6
Show member pathways
12.55 CD3G CD3D CD247
7
Show member pathways
12.55 CD3G CD3D CD247
8
Show member pathways
12.51 CD3G CD3D CD247
9
Show member pathways
12.36 CD3G CD3D CD247
10
Show member pathways
12.32 CD3G CD3D CD247
11
Show member pathways
12.31 CD3G CD3D CD247
12
Show member pathways
12.21 CD3G CD3D CD247
13
Show member pathways
12.14 CD3G CD3D CD247
14
Show member pathways
12.1 CD3G CD3D CD247
15
Show member pathways
11.98 CD3G CD3D CD247
16
Show member pathways
11.8 CD3G CD3D CD247
17
Show member pathways
11.75 CD3G CD3D CD247
18 11.73 CD3G CD3D CD247
19 11.72 CD3G CD3D CD247
20
Show member pathways
11.72 CD3G CD3D CD247
21
Show member pathways
11.7 CD3G CD3D CD247
22 11.64 CD3G CD3D
23 11.51 CD3G CD3D CD247
24 11.48 CD3G CD3D CD247
25 11.43 CD3G CD3D CD247
26
Show member pathways
11.4 CD3G CD3D CD247
27
Show member pathways
11.39 CD3G CD3D CD247
28
Show member pathways
11.37 CD3G CD247
29
Show member pathways
11.33 CD3G CD3D CD247
30 11.2 CD3G CD3D CD247
31 11.05 NCR1 CD3G CD3D CD247
32 10.88 CD3G CD3D CD247
33 10.58 CD3G CD3D CD247

GO Terms for Cd3zeta Deficiency

Cellular components related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 9.16 CD3G CD3D
2 T cell receptor complex GO:0042101 9.13 CD3G CD3D CD247
3 alpha-beta T cell receptor complex GO:0042105 8.8 CD3G CD3D CD247

Biological processes related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.58 CD3G CD3D CD247
2 cell surface receptor signaling pathway GO:0007166 9.5 CD3G CD3D CD247
3 positive regulation of signal transduction GO:0009967 9.37 SLA CD3G
4 T cell receptor signaling pathway GO:0050852 9.33 CD3G CD3D CD247
5 T cell differentiation GO:0030217 9.26 CD3G CD3D
6 positive thymic T cell selection GO:0045059 8.96 CD3G CD3D
7 regulation of immune response GO:0050776 8.92 NCR1 CD3G CD3D CD247

Molecular functions related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 8.8 CD3G CD3D CD247

Sources for Cd3zeta Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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