MCID: CD4001
MIFTS: 30

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 Class I MHC mediated antigen processing and presentation and PAK Pathway. Affiliated tissues include t cells and nk cells, and related phenotypes are Reduced mammosphere formation and immune system

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 CD5 FYN LCK PTPRC SYK ZAP70

MGI Mouse Phenotypes related to Cd45 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.2 ACKR2 ACP1 CCR9 CD4 CD5 CD8A
2 hematopoietic system MP:0005397 10.18 CCR9 CD4 CD5 CD8A CXCL12 DLL1
3 endocrine/exocrine gland MP:0005379 10.14 CCR9 CD4 CD8A DLL1 FUT1 FYN
4 cellular MP:0005384 10.13 ACP1 CD4 CD8A CXCL12 DLL1 FYN
5 nervous system MP:0003631 9.85 CD4 CD5 CD8A CXCL12 DLL1 FYN
6 integument MP:0010771 9.8 ACKR2 CD4 CD5 CD8A FYN PTPN6
7 no phenotypic analysis MP:0003012 9.5 CD4 CD5 CXCL12 FYN PTPRC PTPRJ
8 normal MP:0002873 9.28 CD4 CD5 CD8A CXCL12 DLL1 PTPRC

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:

41
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. 38
29366662 2018
2
GM1 controlled lateral segregation of tyrosine kinase Lck predispose T-cells to cell-derived galectin-1-induced apoptosis. 38
24231767 2014
3
Regulation of Src family kinases involved in T cell receptor signaling by protein-tyrosine phosphatase CD148. 38
21543337 2011
4
Differential requirements for CD45 in NK-cell function reveal distinct roles for Syk-family kinases. 38
21245479 2011
5
CD45 deficiency drives amyloid-β peptide oligomers and neuronal loss in Alzheimer's disease mice. 38
21273420 2011
6
CD45 regulates migration, proliferation, and progression of double negative 1 thymocytes. 38
20624943 2010
7
CD45 regulates thymocyte survival during development in fetal thymic organ culture. 38
19765855 2010
8
Glycosylation changes in hFUT1 transgenic mice increase TCR signaling and apoptosis resulting in thymocyte maturation arrest. 38
18155296 2008
9
Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. 38
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. 38
9029091 1997
11
Surface expression of a heterologous phosphatase complements CD45 deficiency in a T cell clone. 38
7931069 1994
12
Activation of CD45-deficient T cell clones by lectin mitogens but not anti-Thy-1. 38
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. 38
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 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 ZAP70 SYK PTPRJ PTPRC PTPN6 LCK
2
Show member pathways
13.3 PTPRJ PTPRC PTPN6 FYN DLL1 CXCL12
3
Show member pathways
13.01 ZAP70 SYK LCK FYN CXCL12
4
Show member pathways
12.91 ZAP70 SYK PTPRC LCK FYN CD8A
5
Show member pathways
12.85 ZAP70 PTPRC LCK FYN CXCL12 CD8A
6
Show member pathways
12.63 ZAP70 SYK PTPRC LCK FYN CD4
7
Show member pathways
12.54 ZAP70 LCK DLL1 CD4
8 12.54 ZAP70 SYK PTPRC PTPN6 LCK CXCL12
9
Show member pathways
12.53 SYK PTPRC PTPN6 FYN
10
Show member pathways
12.52 ZAP70 SYK PTPN6 LCK FYN
11
Show member pathways
12.51 PTPRC LCK FYN CXCL12
12
Show member pathways
12.49 ZAP70 PTPRC PTPN6 LCK FYN CD8A
13
Show member pathways
12.43 SYK PTPRC PTPN6 LCK FYN
14
Show member pathways
12.41 PTPRC PTPN6 LCK FYN CXCL12
15
Show member pathways
12.39 ZAP70 SYK PTPRC LCK FYN CD4
16
Show member pathways
12.37 ZAP70 PTPRJ PTPRC LCK CD4
17
Show member pathways
12.33 ZAP70 SYK PTPRC PTPN6 LCK CD4
18
Show member pathways
12.21 CXCL12 CCR9 ACKR2
19
Show member pathways
12.21 PTPN6 LCK FYN CD4
20
Show member pathways
12.15 SYK PTPN6 LCK FYN
21 12.13 ZAP70 SYK LCK FYN
22 12.05 PTPRC CD8A CD4
23
Show member pathways
12.01 SYK LCK FYN
24 12.01 THY1 PTPRC CD8A CD5 CD4
25 11.99 SYK LCK FYN
26 11.95 ZAP70 SYK LCK CXCL12
27
Show member pathways
11.92 LCK CD8A CD4
28
Show member pathways
11.91 SYK PTPN6 LCK
29 11.9 PTPRC PTPN6 LCK FYN CXCL12
30
Show member pathways
11.89 SYK PTPN6 FYN
31 11.88 ZAP70 LCK CD4
32
Show member pathways
11.88 ZAP70 PTPRJ PTPRC PTPN6 LCK CD4
33 11.84 CD8A CD5 CD4
34 11.83 THY1 PTPRC CD8A CD4
35
Show member pathways
11.8 LCK FYN CD4
36 11.78 THY1 PTPRC CD8A CD4
37 11.76 PTPRJ PTPN6 FYN ACP1
38 11.71 ZAP70 SYK LCK FYN CD4
39 11.68 ZAP70 LCK FYN CXCL12
40 11.61 PTPRJ LCK FYN ACP1
41 11.59 THY1 PTPRC CD5 CD4
42 11.57 ZAP70 PTPRC LCK FYN CD8A CD4
43 11.57 ZAP70 PTPRC PTPN6 LCK FYN
44 11.53 THY1 LCK FYN
45 11.51 PTPRC PTPN6 LCK FYN CXCL12 CD4
46 11.5 SYK LCK FYN
47 11.34 SYK LCK FYN
48 11.29 ZAP70 PTPRC LCK CD8A CD4
49 11.28 ZAP70 SYK LCK FYN CD8A CD4
50
Show member pathways
11.2 ZAP70 PTPRC PTPN6 LCK FYN CD8A

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 integral component of plasma membrane GO:0005887 9.96 THY1 PTPRJ PTPRC FUT1 DLL1 CD8A
2 cell surface GO:0009986 9.83 THY1 PTPRJ PTPRC CD4 CCR9
3 immunological synapse GO:0001772 9.58 ZAP70 PTPRJ LCK
4 membrane raft GO:0045121 9.5 ZAP70 THY1 PTPRC LCK FYN DLL1
5 T cell receptor complex GO:0042101 9.46 ZAP70 SYK CD8A CD4
6 external side of plasma membrane GO:0009897 9.23 THY1 PTPRC CXCL12 CD8A CD5 CD4
7 membrane GO:0016020 10.27 ZAP70 THY1 SYK PTPRJ PTPRC PTPN6
8 plasma membrane GO:0005886 10.17 ZAP70 THY1 SYK PTPRJ PTPRC LCK

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.97 ZAP70 SYK FYN CD4
2 cell surface receptor signaling pathway GO:0007166 9.95 SYK PTPRC FYN CD8A CD4
3 protein autophosphorylation GO:0046777 9.91 ZAP70 THY1 SYK FYN
4 B cell receptor signaling pathway GO:0050853 9.88 SYK PTPRC PTPN6 LCK
5 positive regulation of MAPK cascade GO:0043410 9.86 PTPRJ PTPRC CD4
6 platelet activation GO:0030168 9.86 SYK PTPN6 LCK FYN
7 cell chemotaxis GO:0060326 9.83 CXCL12 CCR9 ACKR2
8 peptidyl-tyrosine dephosphorylation GO:0035335 9.83 PTPRJ PTPRC PTPN6 ACP1
9 chemokine-mediated signaling pathway GO:0070098 9.8 CXCL12 CCR9 ACKR2
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.8 LCK FYN CD8A CD4
11 protein dephosphorylation GO:0006470 9.8 PTPRJ PTPRC PTPN6 LCK ACP1
12 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 SYK PTPRJ PTPRC CD4
13 peptidyl-tyrosine phosphorylation GO:0018108 9.77 ZAP70 SYK PTPN6 LCK FYN
14 regulation of defense response to virus by virus GO:0050690 9.74 LCK FYN CD4
15 calcium-mediated signaling using intracellular calcium source GO:0035584 9.69 PTPRJ PTPRC
16 positive regulation of T cell activation GO:0050870 9.69 THY1 LCK CD4
17 positive regulation of T cell differentiation GO:0045582 9.68 ZAP70 PTPRC
18 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.68 THY1 LCK
19 positive regulation of cell adhesion mediated by integrin GO:0033630 9.68 SYK PTPN6
20 negative regulation of protein tyrosine kinase activity GO:0061099 9.67 THY1 PTPRC
21 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.67 PTPRC CD4
22 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.66 PTPRC PTPN6
23 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.65 FYN CXCL12
24 positive thymic T cell selection GO:0045059 9.64 ZAP70 PTPRC
25 negative thymic T cell selection GO:0045060 9.64 ZAP70 PTPRC
26 positive regulation of alpha-beta T cell differentiation GO:0046638 9.63 ZAP70 SYK
27 regulation of phagocytosis GO:0050764 9.63 SYK PTPRC
28 negative regulation of T cell receptor signaling pathway GO:0050860 9.63 THY1 PTPRJ PTPN6
29 enzyme linked receptor protein signaling pathway GO:0007167 9.62 SYK CD4
30 T cell costimulation GO:0031295 9.62 PTPN6 LCK FYN CD5
31 positive regulation of calcium-mediated signaling GO:0050850 9.61 ZAP70 SYK CD4
32 positive regulation of gamma-delta T cell differentiation GO:0045588 9.6 SYK PTPRC
33 positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis GO:1905451 9.59 PTPRJ PTPRC
34 beta selection GO:0043366 9.58 ZAP70 SYK
35 T cell activation GO:0042110 9.46 ZAP70 PTPRC CD8A CD4
36 positive regulation of alpha-beta T cell proliferation GO:0046641 9.43 ZAP70 SYK PTPRC
37 regulation of B cell differentiation GO:0045577 9.35 PTPN6
38 T cell differentiation GO:0030217 9.26 ZAP70 PTPRC LCK CD4
39 T cell receptor signaling pathway GO:0050852 9.17 ZAP70 THY1 PTPRJ PTPRC LCK FYN
40 immune system process GO:0002376 10.06 ZAP70 SYK FYN CD8A CD4
41 viral process GO:0016032 10.01 SYK LCK FYN CXCL12 CD4
42 immune response GO:0006955 10.01 ZAP70 CXCL12 CD8A CD4 CCR9 ACKR2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.85 PTPRC LCK FYN CXCL12 CD4
2 protein tyrosine kinase activity GO:0004713 9.73 ZAP70 SYK LCK FYN
3 phosphatase activity GO:0016791 9.71 PTPRJ PTPRC PTPN6
4 integrin binding GO:0005178 9.7 THY1 SYK CXCL12
5 protein tyrosine phosphatase activity GO:0004725 9.62 PTPRJ PTPRC PTPN6 ACP1
6 chemokine binding GO:0019956 9.58 CCR9 ACKR2
7 C-C chemokine binding GO:0019957 9.58 CCR9 ACKR2
8 SH2 domain binding GO:0042169 9.58 SYK PTPN6 LCK
9 C-C chemokine receptor activity GO:0016493 9.57 CCR9 ACKR2
10 phosphatidylinositol 3-kinase binding GO:0043548 9.56 LCK FYN
11 phosphoprotein phosphatase activity GO:0004721 9.56 PTPRJ PTPRC PTPN6 ACP1
12 chemokine receptor activity GO:0004950 9.55 CCR9 ACKR2
13 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.51 PTPRC PTPN6
14 CD4 receptor binding GO:0042609 9.49 LCK FYN
15 T cell receptor binding GO:0042608 9.48 LCK FYN
16 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.46 ZAP70 SYK LCK FYN
17 CD8 receptor binding GO:0042610 9.37 LCK FYN
18 phosphotyrosine residue binding GO:0001784 9.26 ZAP70 SYK PTPN6 LCK
19 protein kinase binding GO:0019901 9.23 THY1 SYK PTPRJ PTPRC PTPN6 LCK

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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