MCID: CD4001
MIFTS: 34

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. The drugs Thiotepa and Fludarabine have been mentioned in the context of this disorder. 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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 CCR9 CD5 CXCL12 DLL1 FYN LCK
2 cellular MP:0005384 10.02 ACP1 CXCL12 DLL1 FYN PLCG1 PTPN6
3 endocrine/exocrine gland MP:0005379 10.02 CCR9 DLL1 FUT1 FYN LCK PLCG1
4 immune system MP:0005387 10 ACKR2 ACP1 CCR9 CD5 CXCL12 DLL1
5 no phenotypic analysis MP:0003012 9.43 CD5 CXCL12 FYN PTPRC PTPRJ SYK
6 normal MP:0002873 9.17 CD5 CXCL12 DLL1 PTPRC PTPRJ THY1

Drugs & Therapeutics for Cd45 Deficiency

Drugs for Cd45 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
2
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
3
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
4 Antimetabolites Phase 1, Phase 2
5 Antilymphocyte Serum Phase 1, Phase 2
6 Immunologic Factors Phase 1, Phase 2
7 Antimetabolites, Antineoplastic Phase 1, Phase 2
8 Antineoplastic Agents, Alkylating Phase 1, Phase 2
9 Alkylating Agents Phase 1, Phase 2
10 Immunosuppressive Agents Phase 1, Phase 2
11 Thymoglobulin Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) Not yet recruiting NCT03597594 Phase 1, Phase 2 Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa

Search NIH Clinical Center for Cd45 Deficiency

Genetic Tests for Cd45 Deficiency

Anatomical Context for Cd45 Deficiency

MalaCards organs/tissues related to Cd45 Deficiency:

42
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 64)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 FYN LCK PLCG1 PTPN6 PTPRC PTPRJ
2
Show member pathways
13.27 CCR9 CXCL12 DLL1 FYN PLCG1 PTPN6
3
Show member pathways
13.05 CXCL12 FYN LCK PLCG1 SYK ZAP70
4
Show member pathways
12.9 FYN LCK PLCG1 PTPRC SYK ZAP70
5
Show member pathways
12.88 CXCL12 FYN PLCG1 SYK ZAP70
6
Show member pathways
12.83 CCR9 CXCL12 FYN LCK PLCG1 PTPRC
7
Show member pathways
12.72 FYN LCK PLCG1 PTPN6 SYK
8
Show member pathways
12.6 FYN LCK PLCG1 PTPRC SYK ZAP70
9
Show member pathways
12.58 FYN PLCG1 PTPN6 PTPRC SYK
10
Show member pathways
12.55 DLL1 LCK PLCG1 ZAP70
11
Show member pathways
12.53 CXCL12 FYN LCK PTPRC
12 12.53 CXCL12 LCK PTPN6 PTPRC SYK ZAP70
13
Show member pathways
12.48 FYN LCK PLCG1 PTPN6 SYK ZAP70
14
Show member pathways
12.45 FYN PLCG1 PTPN6 ZAP70
15
Show member pathways
12.39 CXCL12 FYN LCK PTPN6 PTPRC
16
Show member pathways
12.38 FYN LCK PLCG1 PTPN6 PTPRC ZAP70
17
Show member pathways
12.36 LCK PLCG1 PTPRC PTPRJ ZAP70
18
Show member pathways
12.33 LCK PTPN6 PTPRC SYK ZAP70
19
Show member pathways
12.33 FYN LCK PLCG1 PTPRC SYK ZAP70
20
Show member pathways
12.31 FYN LCK PLCG1 PTPN6 PTPRC SYK
21
Show member pathways
12.23 FYN LCK PLCG1 PTPN6
22
Show member pathways
12.19 CCR9 CXCL12 PLCG1 SYK THY1
23
Show member pathways
12.17 FYN PLCG1 PTPN6 SYK
24
Show member pathways
12.14 FYN LCK PTPN6 SYK
25 12.13 FYN LCK SYK ZAP70
26
Show member pathways
12.03 FYN LCK SYK
27 12.01 FYN LCK SYK
28
Show member pathways
11.95 ACKR2 CCR9 CXCL12
29 11.95 CD5 PTPRC THY1
30
Show member pathways
11.95 FYN LCK PLCG1
31
Show member pathways
11.94 FYN PLCG1 PTPN6 SYK
32
Show member pathways
11.92 LCK PTPN6 SYK
33 11.89 LCK PLCG1 ZAP70
34
Show member pathways
11.87 PLCG1 PTPN6 PTPRC
35 11.85 CXCL12 FYN LCK PTPN6 PTPRC
36
Show member pathways
11.84 FYN PLCG1 PTPN6
37 11.83 PLCG1 PTPRC SYK
38 11.81 CXCL12 LCK PLCG1 SYK ZAP70
39 11.74 ACP1 FYN PTPN6 PTPRJ
40 11.73 FYN LCK SYK ZAP70
41 11.72 CXCL12 FYN LCK PLCG1 ZAP70
42 11.68 CXCL12 FYN LCK PTPN6 PTPRC
43
Show member pathways
11.67 LCK PLCG1 PTPN6 PTPRC PTPRJ ZAP70
44
Show member pathways
11.62 FYN PLCG1 SYK
45 11.62 FYN LCK PLCG1 SYK ZAP70
46 11.58 CD5 PTPRC THY1
47 11.56 FYN LCK PLCG1 PTPRC ZAP70
48 11.53 FYN LCK THY1
49 11.5 FYN LCK SYK
50
Show member pathways
11.47 FYN LCK PLCG1 PTPN6 PTPRC ZAP70

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 9.86 ACKR2 CCR9 CD5 DLL1 FUT1 PTPRC
3 cell-cell junction GO:0005911 9.67 PLCG1 PTPN6 PTPRJ ZAP70
4 immunological synapse GO:0001772 9.5 LCK PTPRJ ZAP70
5 T cell receptor complex GO:0042101 9.43 SYK ZAP70
6 external side of plasma membrane GO:0009897 9.43 ACKR2 CCR9 CD5 CXCL12 PTPRC THY1
7 membrane raft GO:0045121 9.1 DLL1 FYN LCK PTPRC THY1 ZAP70
8 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 37)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.97 FYN PLCG1 PTPN6 SYK ZAP70
2 viral process GO:0016032 9.95 CXCL12 FYN LCK PLCG1 SYK
3 leukocyte migration GO:0050900 9.86 FYN LCK PLCG1 PTPN6
4 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.84 FYN PLCG1 SYK
5 protein autophosphorylation GO:0046777 9.84 FYN SYK THY1 ZAP70
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.8 PTPRC PTPRJ SYK
7 calcium-mediated signaling GO:0019722 9.78 ACKR2 CCR9 PLCG1
8 cell chemotaxis GO:0060326 9.77 ACKR2 CCR9 CXCL12
9 B cell receptor signaling pathway GO:0050853 9.76 LCK PTPN6 PTPRC SYK
10 chemokine-mediated signaling pathway GO:0070098 9.75 ACKR2 CCR9 CXCL12
11 platelet activation GO:0030168 9.73 FYN LCK PTPN6 SYK
12 protein dephosphorylation GO:0006470 9.72 ACP1 LCK PTPN6 PTPRC PTPRJ
13 peptidyl-tyrosine dephosphorylation GO:0035335 9.71 ACP1 PTPN6 PTPRC PTPRJ
14 positive regulation of focal adhesion assembly GO:0051894 9.67 PTPRJ THY1
15 positive regulation of T cell activation GO:0050870 9.67 LCK THY1
16 calcium-mediated signaling using intracellular calcium source GO:0035584 9.67 PTPRC PTPRJ
17 T cell differentiation GO:0030217 9.67 LCK PTPRC ZAP70
18 positive regulation of T cell differentiation GO:0045582 9.66 PTPRC ZAP70
19 positive regulation of calcium-mediated signaling GO:0050850 9.65 SYK ZAP70
20 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 LCK THY1
21 negative regulation of protein tyrosine kinase activity GO:0061099 9.65 PTPRC THY1
22 peptidyl-tyrosine phosphorylation GO:0018108 9.65 FYN LCK PTPN6 SYK ZAP70
23 positive regulation of cell adhesion mediated by integrin GO:0033630 9.64 PTPN6 SYK
24 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.64 PTPN6 PTPRC
25 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.63 CXCL12 FYN
26 negative thymic T cell selection GO:0045060 9.62 PTPRC ZAP70
27 positive thymic T cell selection GO:0045059 9.62 PTPRC ZAP70
28 regulation of B cell differentiation GO:0045577 9.61 PTPN6 PTPRC
29 positive regulation of alpha-beta T cell differentiation GO:0046638 9.59 SYK ZAP70
30 regulation of phagocytosis GO:0050764 9.58 PTPRC SYK
31 negative regulation of T cell receptor signaling pathway GO:0050860 9.54 PTPN6 PTPRJ THY1
32 positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis GO:1905451 9.52 PTPRC PTPRJ
33 positive regulation of gamma-delta T cell differentiation GO:0045588 9.51 PTPRC SYK
34 beta selection GO:0043366 9.48 SYK ZAP70
35 positive regulation of alpha-beta T cell proliferation GO:0046641 9.33 PTPRC SYK ZAP70
36 T cell costimulation GO:0031295 9.26 CD5 FYN LCK PTPN6
37 T cell receptor signaling pathway GO:0050852 9.17 FYN LCK PLCG1 PTPRC PTPRJ THY1

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 9.87 CXCL12 FYN LCK PTPRC
2 protein tyrosine kinase activity GO:0004713 9.73 FYN LCK SYK ZAP70
3 phosphatase activity GO:0016791 9.7 PTPN6 PTPRC PTPRJ
4 integrin binding GO:0005178 9.69 CXCL12 SYK THY1
5 protein tyrosine phosphatase activity GO:0004725 9.62 ACP1 PTPN6 PTPRC PTPRJ
6 chemokine binding GO:0019956 9.58 ACKR2 CCR9
7 C-C chemokine binding GO:0019957 9.58 ACKR2 CCR9
8 SH2 domain binding GO:0042169 9.58 LCK PTPN6 SYK
9 C-C chemokine receptor activity GO:0016493 9.56 ACKR2 CCR9
10 phosphoprotein phosphatase activity GO:0004721 9.56 ACP1 PTPN6 PTPRC PTPRJ
11 chemokine receptor activity GO:0004950 9.55 ACKR2 CCR9
12 phosphatidylinositol 3-kinase binding GO:0043548 9.54 FYN LCK
13 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.49 PTPN6 PTPRC
14 CD4 receptor binding GO:0042609 9.48 FYN LCK
15 T cell receptor binding GO:0042608 9.46 FYN LCK
16 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.46 FYN LCK SYK ZAP70
17 CD8 receptor binding GO:0042610 9.37 FYN LCK
18 phosphotyrosine residue binding GO:0001784 9.26 LCK PTPN6 SYK ZAP70
19 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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