MCID: CD4001
MIFTS: 29

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 spindle cell thymoma. 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 related phenotypes are Decreased cell migration and Decreased substrate adherent cell growth

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 Decreased cell migration GR00055-A-1 9.65 LCK PLCG1 PTPN6 SYK ZAP70
2 Decreased substrate adherent cell growth GR00193-A-2 9.55 FYN LCK SYK
3 Decreased substrate adherent cell growth GR00193-A-3 9.55 LCK
4 Decreased substrate adherent cell growth GR00193-A-4 9.55 LCK
5 Reduced mammosphere formation GR00396-S 9.43 CD5 FYN LCK PTPRC SYK ZAP70
6 shRNA abundance <= 50% GR00343-S 9.28 ACKR2 ACP1 CCR9 FYN LCK PTPRC

MGI Mouse Phenotypes related to Cd45 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 CD5 PTPRJ CXCL12 SYK DLL1 ZAP70
2 endocrine/exocrine gland MP:0005379 10.02 CCR9 PTPRC SYK DLL1 FUT1 ZAP70
3 immune system MP:0005387 10 CD5 PTPRJ CXCL12 SYK DLL1 ZAP70
4 no phenotypic analysis MP:0003012 9.43 PTPRC CD5 PTPRJ CXCL12 SYK FYN
5 normal MP:0002873 9.17 PTPRC CD5 PTPRJ CXCL12 THY1 DLL1

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

Publications for Cd45 Deficiency

Articles related to Cd45 Deficiency:

# Title Authors Year
1
CD45 deficiency drives amyloid-I^ peptide oligomers and neuronal loss in Alzheimer's disease mice. ( 21273420 )
2011
2
Surface expression of hemopoietic cell phosphatase fails to complement CD45 deficiency and inhibits TCR-mediated signal transduction in a Jurkat T cell clone. ( 9029091 )
1997
3
Surface expression of a heterologous phosphatase complements CD45 deficiency in a T cell clone. ( 7931069 )
1994

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 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 FYN LCK PLCG1 PTPN6 PTPRC PTPRJ
2
Show member pathways
13.26 CCR9 CXCL12 DLL1 FYN PLCG1 PTPN6
3
Show member pathways
13.04 CXCL12 FYN LCK PLCG1 SYK ZAP70
4
Show member pathways
12.88 CXCL12 FYN PLCG1 SYK ZAP70
5
Show member pathways
12.88 FYN LCK PLCG1 PTPRC SYK ZAP70
6
Show member pathways
12.83 CCR9 CXCL12 FYN LCK PLCG1 PTPRC
7
Show member pathways
12.76 FYN LCK PLCG1 PTPRC SYK
8
Show member pathways
12.71 FYN LCK PLCG1 PTPN6 SYK
9
Show member pathways
12.57 FYN LCK PLCG1 SYK ZAP70
10
Show member pathways
12.56 FYN PLCG1 PTPN6 PTPRC SYK
11 12.53 CXCL12 LCK PTPN6 PTPRC SYK ZAP70
12
Show member pathways
12.52 CXCL12 FYN LCK PTPRC
13
Show member pathways
12.46 FYN LCK PLCG1 PTPN6 SYK ZAP70
14
Show member pathways
12.44 FYN PLCG1 PTPN6 ZAP70
15
Show member pathways
12.41 DLL1 LCK PLCG1 ZAP70
16
Show member pathways
12.38 FYN LCK PLCG1 PTPN6 PTPRC ZAP70
17
Show member pathways
12.34 LCK PLCG1 PTPRC PTPRJ ZAP70
18
Show member pathways
12.33 FYN LCK PLCG1 PTPRC SYK ZAP70
19
Show member pathways
12.31 LCK PTPN6 PTPRC SYK ZAP70
20
Show member pathways
12.31 FYN LCK PLCG1 PTPN6 PTPRC SYK
21
Show member pathways
12.22 FYN LCK PLCG1 PTPN6
22
Show member pathways
12.16 FYN PLCG1 PTPN6 SYK
23
Show member pathways
12.13 FYN LCK PTPN6 SYK
24 12.11 FYN LCK SYK ZAP70
25
Show member pathways
12.02 FYN LCK SYK
26 12 FYN LCK SYK
27
Show member pathways
11.95 ACKR2 CCR9 CXCL12
28 11.95 CD5 PTPRC THY1
29
Show member pathways
11.94 FYN LCK PLCG1
30
Show member pathways
11.93 FYN PLCG1 PTPN6 SYK
31
Show member pathways
11.91 LCK PTPN6 SYK
32 11.88 LCK PLCG1 ZAP70
33 11.87 CXCL12 FYN LCK PTPN6 PTPRC
34
Show member pathways
11.86 PLCG1 PTPN6 PTPRC
35
Show member pathways
11.83 FYN PLCG1 PTPN6
36 11.82 PLCG1 PTPRC SYK
37 11.81 CXCL12 LCK PLCG1 SYK ZAP70
38 11.73 ACP1 FYN PTPN6 PTPRJ
39 11.72 FYN LCK SYK ZAP70
40 11.68 CXCL12 FYN LCK PTPN6 PTPRC
41
Show member pathways
11.67 LCK PLCG1 PTPN6 PTPRC PTPRJ ZAP70
42 11.62 FYN LCK PLCG1 SYK ZAP70
43
Show member pathways
11.61 FYN PLCG1 SYK
44 11.57 CD5 PTPRC THY1
45 11.52 FYN LCK THY1
46 11.49 FYN LCK SYK
47
Show member pathways
11.47 FYN LCK PLCG1 PTPN6 PTPRC ZAP70
48 11.46 FYN LCK PTPN6 PTPRC ZAP70
49 11.44 FYN LCK PLCG1
50 11.39 ACP1 FYN LCK PLCG1 PTPRJ

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 plasma membrane GO:0005886 9.97 ACKR2 CCR9 CD5 CXCL12 DLL1 FYN
2 integral component of plasma membrane GO:0005887 9.92 ACKR2 CCR9 CD5 DLL1 FUT1 PTPRC
3 external side of plasma membrane GO:0009897 9.73 CD5 CXCL12 PTPRC THY1
4 cell-cell junction GO:0005911 9.67 PLCG1 PTPN6 PTPRJ ZAP70
5 T cell receptor complex GO:0042101 9.46 SYK ZAP70
6 immunological synapse GO:0001772 9.43 LCK PTPRJ ZAP70
7 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.26 FYN LCK SYK ZAP70
8 membrane raft GO:0045121 9.1 DLL1 FYN LCK PTPRC THY1 ZAP70
9 membrane GO:0016020 10.25 ACKR2 ACP1 CCR9 CD5 DLL1 FUT1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.95 FYN PLCG1 PTPN6 SYK ZAP70
2 regulation of cell proliferation GO:0042127 9.88 FYN LCK SYK ZAP70
3 leukocyte migration GO:0050900 9.84 FYN LCK PLCG1 PTPN6
4 protein autophosphorylation GO:0046777 9.83 FYN SYK THY1 ZAP70
5 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.79 FYN PLCG1 SYK
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.78 FYN LCK SYK ZAP70
7 platelet activation GO:0030168 9.76 FYN LCK PTPN6 SYK
8 chemokine-mediated signaling pathway GO:0070098 9.74 ACKR2 CCR9 CXCL12
9 peptidyl-tyrosine dephosphorylation GO:0035335 9.73 ACP1 PTPN6 PTPRC PTPRJ
10 B cell receptor signaling pathway GO:0050853 9.71 LCK PTPN6 PTPRC SYK
11 T cell differentiation GO:0030217 9.69 LCK PTPRC ZAP70
12 protein dephosphorylation GO:0006470 9.65 ACP1 LCK PTPN6 PTPRC PTPRJ
13 positive regulation of focal adhesion assembly GO:0051894 9.63 PTPRJ THY1
14 positive regulation of T cell activation GO:0050870 9.62 LCK THY1
15 T cell costimulation GO:0031295 9.62 CD5 FYN LCK PTPN6
16 positive regulation of calcium-mediated signaling GO:0050850 9.61 SYK ZAP70
17 positive regulation of cell adhesion mediated by integrin GO:0033630 9.61 PTPN6 SYK
18 positive regulation of alpha-beta T cell differentiation GO:0046638 9.59 SYK ZAP70
19 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.58 CXCL12 FYN
20 positive regulation of alpha-beta T cell proliferation GO:0046641 9.56 SYK ZAP70
21 peptidyl-tyrosine phosphorylation GO:0018108 9.55 FYN LCK PTPN6 SYK ZAP70
22 negative regulation of T cell receptor signaling pathway GO:0050860 9.54 PTPN6 PTPRJ THY1
23 beta selection GO:0043366 9.49 SYK ZAP70
24 peptidyl-tyrosine autophosphorylation GO:0038083 9.26 FYN LCK SYK ZAP70
25 T cell receptor signaling pathway GO:0050852 9.17 FYN LCK PLCG1 PTPRC PTPRJ THY1
26 cell differentiation GO:0030154 10.08 DLL1 FYN LCK PTPN6 SYK ZAP70

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.85 CXCL12 FYN LCK SYK ZAP70
2 protein tyrosine kinase activity GO:0004713 9.73 FYN LCK SYK ZAP70
3 integrin binding GO:0005178 9.72 CXCL12 SYK THY1
4 phosphoprotein phosphatase activity GO:0004721 9.7 ACP1 PTPN6 PTPRJ
5 phosphatase activity GO:0016791 9.67 ACP1 PTPN6 PTPRC PTPRJ
6 SH2 domain binding GO:0042169 9.58 LCK PTPN6 SYK
7 chemokine receptor activity GO:0004950 9.57 ACKR2 CCR9
8 phosphatidylinositol 3-kinase binding GO:0043548 9.56 FYN LCK
9 protein tyrosine phosphatase activity GO:0004725 9.56 ACP1 PTPN6 PTPRC PTPRJ
10 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.54 PTPN6 PTPRC
11 C-C chemokine receptor activity GO:0016493 9.51 ACKR2 CCR9
12 T cell receptor binding GO:0042608 9.49 FYN LCK
13 CD4 receptor binding GO:0042609 9.48 FYN LCK
14 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.46 FYN LCK SYK ZAP70
15 CD8 receptor binding GO:0042610 9.32 FYN LCK
16 phosphotyrosine residue binding GO:0001784 9.26 LCK PTPN6 SYK ZAP70
17 protein kinase binding GO:0019901 9.17 LCK PLCG1 PTPN6 PTPRC PTPRJ SYK

Sources for Cd45 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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