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 rhinoscleroma and intestine carcinoma in situ. An important gene associated with Cd3zeta Deficiency is CD247 (CD247 Molecule), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. Affiliated tissues include t cells and colon, 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 rhinoscleroma 10.0 CCR2 NCAM1
2 intestine carcinoma in situ 9.9 CD44 NCAM1
3 colon carcinoma in situ 9.8 CD44 NCAM1

Symptoms & Phenotypes for Cd3zeta Deficiency

MGI Mouse Phenotypes related to Cd3zeta Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 CCR2 CD247 CD44 KLRD1 NCR1 TYROBP

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:

41
T Cells, Colon

Publications for Cd3zeta Deficiency

Variations for Cd3zeta Deficiency

Expression for Cd3zeta Deficiency

Search GEO for disease gene expression data for Cd3zeta Deficiency.

Pathways for Cd3zeta Deficiency

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 integral component of membrane GO:0016021 9.7 CCR2 CD247 CD44 KLRD1 NCAM1 NCR1
2 integral component of plasma membrane GO:0005887 9.62 CCR2 CD44 NCR1 TYROBP
3 secretory granule membrane GO:0030667 9.26 CD44 TYROBP
4 plasma membrane GO:0005886 9.17 CCR2 CD247 CD44 KLRD1 NCAM1 NCR1
5 external side of plasma membrane GO:0009897 9.13 CCR2 KLRD1 NCAM1

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.43 CCR2 CD247 NCAM1
2 interferon-gamma-mediated signaling pathway GO:0060333 9.16 CD44 NCAM1
3 cellular defense response GO:0006968 9.13 CCR2 NCR1 TYROBP
4 regulation of immune response GO:0050776 8.92 CD247 KLRD1 NCR1 TYROBP

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 CD247 CD44 KLRD1

Sources for Cd3zeta Deficiency

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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