MCID: CD4001
MIFTS: 28

Cd45 Deficiency

Categories: Immune diseases

Aliases & Classifications for Cd45 Deficiency

MalaCards integrated aliases for Cd45 Deficiency:

Name: Cd45 Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060014

Summaries for Cd45 Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.

MalaCards based summary : Cd45 Deficiency is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive and autoimmune cardiomyopathy. An important gene associated with Cd45 Deficiency is PTPN6 (Protein Tyrosine Phosphatase Non-Receptor Type 6), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include t cells and nk cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Cd45 Deficiency

Graphical network of the top 20 diseases related to Cd45 Deficiency:



Diseases related to Cd45 Deficiency

Symptoms & Phenotypes for Cd45 Deficiency

GenomeRNAi Phenotypes related to Cd45 Deficiency according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-3 10.36 LCK
2 Decreased viability GR00107-A-1 10.36 ZAP70
3 Decreased viability GR00221-A-1 10.36 FYN LCK ZAP70 CSK
4 Decreased viability GR00221-A-2 10.36 FYN LCK VAV1 ZAP70
5 Decreased viability GR00221-A-3 10.36 LCK VAV1 CSK LYN
6 Decreased viability GR00221-A-4 10.36 VAV1
7 Decreased viability GR00240-S-1 10.36 FYN
8 Decreased viability GR00249-S 10.36 ZAP70
9 Decreased viability GR00301-A 10.36 LCK
10 Decreased viability GR00342-S-1 10.36 LCK
11 Decreased viability GR00342-S-3 10.36 LCK
12 Decreased viability GR00386-A-1 10.36 LCK VAV1
13 Decreased cell migration GR00055-A-1 9.63 LCK LYN PTPN6 ZAP70
14 Decreased cell migration GR00055-A-3 9.63 LYN PTPN6
15 Increased viability GR00342-S-1 9.02 LYN ZAP70
16 Increased viability GR00342-S-2 9.02 LYN ZAP70
17 Increased viability GR00342-S-3 9.02 LYN

MGI Mouse Phenotypes related to Cd45 Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 CSK FYN ICAM4 LCK LYN PTPN6
2 endocrine/exocrine gland MP:0005379 9.8 CSK FYN LCK PTPN6 PTPRC VAV1
3 immune system MP:0005387 9.65 ACP1 CSK FYN LCK LYN PTPN6
4 respiratory system MP:0005388 9.1 CSK LYN PTPN6 PTPRC PTPRJ ZAP70

Drugs & Therapeutics for Cd45 Deficiency

Search Clinical Trials , NIH Clinical Center for Cd45 Deficiency

Genetic Tests for Cd45 Deficiency

Anatomical Context for Cd45 Deficiency

MalaCards organs/tissues related to Cd45 Deficiency:

40
T Cells, Nk Cells

Publications for Cd45 Deficiency

Articles related to Cd45 Deficiency:

(show all 13)
# Title Authors PMID Year
1
CD45 in human physiology and clinical medicine. 61
29366662 2018
2
GM1 controlled lateral segregation of tyrosine kinase Lck predispose T-cells to cell-derived galectin-1-induced apoptosis. 61
24231767 2014
3
Regulation of Src family kinases involved in T cell receptor signaling by protein-tyrosine phosphatase CD148. 61
21543337 2011
4
Differential requirements for CD45 in NK-cell function reveal distinct roles for Syk-family kinases. 61
21245479 2011
5
CD45 deficiency drives amyloid-β peptide oligomers and neuronal loss in Alzheimer's disease mice. 61
21273420 2011
6
CD45 regulates migration, proliferation, and progression of double negative 1 thymocytes. 61
20624943 2010
7
CD45 regulates thymocyte survival during development in fetal thymic organ culture. 61
19765855 2010
8
Glycosylation changes in hFUT1 transgenic mice increase TCR signaling and apoptosis resulting in thymocyte maturation arrest. 61
18155296 2008
9
Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. 61
10700239 2000
10
Surface expression of hemopoietic cell phosphatase fails to complement CD45 deficiency and inhibits TCR-mediated signal transduction in a Jurkat T cell clone. 61
9029091 1997
11
Surface expression of a heterologous phosphatase complements CD45 deficiency in a T cell clone. 61
7931069 1994
12
Activation of CD45-deficient T cell clones by lectin mitogens but not anti-Thy-1. 61
7908828 1994
13
CD8+ T-cell clones deficient in the expression of the CD45 protein tyrosine phosphatase have impaired responses to T-cell receptor stimuli. 61
1652055 1991

Variations for Cd45 Deficiency

Expression for Cd45 Deficiency

Search GEO for disease gene expression data for Cd45 Deficiency.

Pathways for Cd45 Deficiency

Pathways related to Cd45 Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 ZAP70 VAV1 PTPRJ PTPRC PTPN6 LYN
2
Show member pathways
13.28 VAV1 PTPN6 LYN LCK FYN CSK
3
Show member pathways
13.28 ZAP70 VAV1 PTPRJ PTPRC PTPN6 LYN
4
Show member pathways
13.25 VAV1 PTPN6 LYN LCK FYN CSK
5
Show member pathways
13.12 VAV1 PTPRC LYN LCK FYN
6
Show member pathways
13.05 VAV1 LYN LCK FYN CSK
7
Show member pathways
12.85 ZAP70 VAV1 PTPRC LYN LCK FYN
8
Show member pathways
12.84 VAV1 LYN LCK ICAM4 FYN
9
Show member pathways
12.77 ZAP70 VAV1 LYN FYN
10
Show member pathways
12.71 VAV1 PTPN6 LYN LCK FYN
11
Show member pathways
12.64 ZAP70 VAV1 LYN FYN
12
Show member pathways
12.62 ZAP70 VAV1 PTPRC LYN LCK FYN
13
Show member pathways
12.57 VAV1 PTPRC PTPN6 LYN FYN
14
Show member pathways
12.57 ZAP70 VAV1 PTPRC PTPN6 LCK FYN
15 12.55 ZAP70 PTPRC PTPN6 LYN LCK
16
Show member pathways
12.52 VAV1 PTPRC LCK FYN
17
Show member pathways
12.5 ZAP70 VAV1 PTPN6 LCK FYN
18
Show member pathways
12.45 ZAP70 VAV1 PTPN6 FYN
19
Show member pathways
12.44 PTPRC PTPN6 LYN LCK FYN
20
Show member pathways
12.4 ZAP70 VAV1 PTPRC PTPN6 LYN LCK
21
Show member pathways
12.34 ZAP70 PTPRJ PTPRC LCK CSK
22
Show member pathways
12.33 ZAP70 VAV1 PTPRC LCK FYN CSK
23
Show member pathways
12.26 VAV1 PTPRC PTPN6 LYN LCK FYN
24
Show member pathways
12.22 PTPN6 LYN LCK FYN
25
Show member pathways
12.21 VAV1 LYN FYN
26
Show member pathways
12.17 VAV1 PTPN6 LYN FYN
27
Show member pathways
12.15 VAV1 PTPN6 LYN LCK FYN
28
Show member pathways
12.15 VAV1 PTPN6 LYN LCK FYN CSK
29 12.13 ZAP70 LYN LCK FYN CSK
30
Show member pathways
12.03 LYN LCK FYN
31 11.97 ZAP70 VAV1 LCK
32
Show member pathways
11.95 LYN LCK FYN
33
Show member pathways
11.95 VAV1 PTPN6 LYN FYN
34 11.94 LYN LCK FYN
35 11.92 ZAP70 LYN LCK FYN
36 11.91 ZAP70 VAV1 FYN
37 11.9 ZAP70 LYN LCK
38
Show member pathways
11.88 ZAP70 PTPRJ PTPRC PTPN6 LCK CSK
39
Show member pathways
11.87 PTPRC PTPN6 LYN
40 11.84 VAV1 PTPRC LYN
41 11.74 PTPRJ PTPN6 FYN ACP1
42 11.72 ZAP70 LCK FYN
43 11.58 LYN LCK FYN CSK
44 11.54 LYN LCK FYN
45 11.53 LYN LCK FYN
46
Show member pathways
11.53 ZAP70 VAV1 PTPRC PTPN6 LCK FYN
47 11.51 LYN LCK FYN
48 11.5 VAV1 PTPN6 LYN
49 11.47 ZAP70 VAV1 PTPRC PTPN6 LCK FYN
50 11.45 VAV1 LYN LCK FYN

GO Terms for Cd45 Deficiency

Cellular components related to Cd45 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.1 ZAP70 PTPRJ PTPRC PTPN6 LYN LCK
2 plasma membrane GO:0005886 10.02 ZAP70 VAV1 PTPRJ PTPRC LYN LCK
3 extracellular exosome GO:0070062 9.87 PTPRJ PTPRC PTPN6 LYN LCK CSK
4 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.46 ZAP70 LYN LCK FYN
5 immunological synapse GO:0001772 9.43 ZAP70 PTPRJ LCK
6 cell-cell junction GO:0005911 9.35 ZAP70 VAV1 PTPRJ PTPN6 CSK
7 membrane raft GO:0045121 9.1 ZAP70 PTPRC LYN LCK FYN CSK

Biological processes related to Cd45 Deficiency according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.05 ZAP70 PTPN6 LYN LCK FYN
2 phosphorylation GO:0016310 10 ZAP70 LYN LCK FYN CSK
3 innate immune response GO:0045087 9.99 ZAP70 LYN LCK FYN
4 viral process GO:0016032 9.98 PTPRC LYN LCK FYN
5 protein phosphorylation GO:0006468 9.98 ZAP70 LYN LCK FYN CSK
6 negative regulation of cell proliferation GO:0008285 9.95 PTPRJ PTPN6 LYN CSK
7 adaptive immune response GO:0002250 9.94 ZAP70 LYN FYN CSK
8 intracellular signal transduction GO:0035556 9.93 ZAP70 VAV1 PTPN6 LYN FYN
9 regulation of cell proliferation GO:0042127 9.87 ZAP70 LYN LCK FYN
10 leukocyte migration GO:0050900 9.86 PTPN6 LYN LCK FYN
11 dephosphorylation GO:0016311 9.85 PTPRJ PTPRC PTPN6
12 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.81 VAV1 LYN FYN
13 positive regulation of protein kinase B signaling GO:0051897 9.81 VAV1 PTPRJ LCK FYN
14 protein autophosphorylation GO:0046777 9.8 ZAP70 LYN FYN CSK
15 protein dephosphorylation GO:0006470 9.8 PTPRJ PTPRC PTPN6 LCK ACP1
16 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.79 PTPN6 LYN FYN
17 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.78 ZAP70 LYN LCK FYN
18 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.77 PTPRC LYN CSK
19 B cell receptor signaling pathway GO:0050853 9.76 PTPRC PTPN6 LYN LCK
20 peptidyl-tyrosine dephosphorylation GO:0035335 9.73 PTPRJ PTPRC PTPN6 ACP1
21 T cell activation GO:0042110 9.72 ZAP70 VAV1 PTPRC
22 negative regulation of MAP kinase activity GO:0043407 9.7 PTPRJ PTPN6 LYN
23 negative regulation of interleukin-6 production GO:0032715 9.69 PTPN6 CSK
24 positive regulation of Ras protein signal transduction GO:0046579 9.68 VAV1 LYN
25 regulation of ERK1 and ERK2 cascade GO:0070372 9.68 PTPN6 LYN
26 regulation of defense response to virus by virus GO:0050690 9.68 LCK FYN
27 negative regulation of T cell receptor signaling pathway GO:0050860 9.67 PTPRJ PTPN6
28 calcium-mediated signaling using intracellular calcium source GO:0035584 9.67 PTPRJ PTPRC
29 T cell differentiation GO:0030217 9.67 ZAP70 VAV1 PTPRC LCK
30 positive regulation of T cell differentiation GO:0045582 9.66 ZAP70 PTPRC
31 cellular response to peptide hormone stimulus GO:0071375 9.66 FYN CSK
32 cellular response to extracellular stimulus GO:0031668 9.65 PTPRC LYN
33 platelet activation GO:0030168 9.65 VAV1 PTPN6 LYN LCK FYN
34 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.63 PTPN6 LYN
35 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.63 PTPRC PTPN6
36 T cell receptor signaling pathway GO:0050852 9.63 ZAP70 PTPRJ PTPRC LCK FYN CSK
37 negative thymic T cell selection GO:0045060 9.62 ZAP70 PTPRC
38 positive thymic T cell selection GO:0045059 9.62 ZAP70 PTPRC
39 peptidyl-tyrosine autophosphorylation GO:0038083 9.62 ZAP70 LYN LCK FYN
40 positive regulation of alpha-beta T cell proliferation GO:0046641 9.61 ZAP70 PTPRC
41 positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis GO:1905451 9.58 PTPRJ PTPRC
42 peptidyl-tyrosine phosphorylation GO:0018108 9.43 ZAP70 PTPN6 LYN LCK FYN CSK
43 T cell costimulation GO:0031295 9.1 VAV1 PTPN6 LYN LCK FYN CSK

Molecular functions related to Cd45 Deficiency according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.88 ZAP70 LYN LCK FYN CSK
2 protein kinase binding GO:0019901 9.86 PTPRJ PTPRC PTPN6 LCK
3 protein kinase activity GO:0004672 9.85 ZAP70 LYN LCK FYN CSK
4 signaling receptor binding GO:0005102 9.77 ZAP70 PTPRC LYN LCK FYN
5 phosphatase activity GO:0016791 9.71 PTPRJ PTPRC PTPN6
6 phosphoprotein phosphatase activity GO:0004721 9.62 PTPRJ PTPRC PTPN6 ACP1
7 SH2 domain binding GO:0042169 9.58 PTPN6 LCK
8 ephrin receptor binding GO:0046875 9.58 LYN FYN
9 phosphatidylinositol 3-kinase binding GO:0043548 9.57 LCK FYN
10 protein tyrosine phosphatase activity GO:0004725 9.56 PTPRJ PTPRC PTPN6 ACP1
11 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.55 PTPRC PTPN6
12 platelet-derived growth factor receptor binding GO:0005161 9.52 PTPRJ LYN
13 CD4 receptor binding GO:0042609 9.51 LCK FYN
14 T cell receptor binding GO:0042608 9.49 LCK FYN
15 phosphotyrosine residue binding GO:0001784 9.46 ZAP70 VAV1 PTPN6 LCK
16 CD8 receptor binding GO:0042610 9.43 LCK FYN
17 phosphorylation-dependent protein binding GO:0140031 9.4 PTPN6 LYN
18 protein tyrosine kinase activity GO:0004713 9.35 ZAP70 LYN LCK FYN CSK
19 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.02 ZAP70 LYN LCK FYN CSK

Sources for Cd45 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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