Cd45 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CD4001 MIFTS: 33	Cd45 Deficiency Categories: Immune diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Cd45 Deficiency

MalaCards integrated aliases for Cd45 Deficiency:

Name: Cd45 Deficiency ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060014

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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 Fludarabine and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include t cells, colon and b cells, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Cd45 Deficiency

Diseases related to Cd45 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	11.3
2	autoimmune cardiomyopathy	10.1	LCK ZAP70
3	spindle cell thymoma	10.1	CD5 LCK
4	dendritic cell thymoma	10.1	CD5 LCK
5	epithelial malignant thymoma	10.1	CD5 LCK
6	colon lymphoma	10.1	CD5 PTPRC
7	b cell linker protein deficiency	10.0	CD5 SYK
8	b cell prolymphocytic leukemia	10.0	CD5 ZAP70
9	epidural neoplasm	10.0	CD5 PTPRC
10	cll/sll	10.0	CD5 ZAP70
11	mantle cell lymphoma	9.9	CD5 PTPRC SYK
12	thymus lipoma	9.9	CD5 PTPRC
13	thymoma	9.8	CD5 LCK PTPRC THY1
14	alzheimer disease	9.8
15	lymphoma, non-hodgkin, familial	9.8	CD5 CXCL12 PTPRC SYK
16	hematologic cancer	9.7	CD5 CXCL12 PTPRC SYK ZAP70
17	leukemia, chronic lymphocytic	9.6	CD5 CXCL12 PTPRC SYK ZAP70

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

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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-2	10.5	SYK
2	Decreased viability	GR00107-A-1	10.5	ZAP70
3	Decreased viability	GR00221-A-1	10.5	FYN LCK SYK ZAP70
4	Decreased viability	GR00221-A-2	10.5	FYN LCK SYK ZAP70
5	Decreased viability	GR00221-A-3	10.5	LCK SYK
6	Decreased viability	GR00240-S-1	10.5	FYN
7	Decreased viability	GR00301-A	10.5	LCK
8	Decreased viability	GR00342-S-1	10.5	LCK ZAP70
9	Decreased viability	GR00342-S-2	10.5	ZAP70
10	Decreased viability	GR00342-S-3	10.5	LCK
11	Decreased viability	GR00402-S-2	10.5	FYN LCK SYK ZAP70
12	Decreased substrate adherent cell growth	GR00193-A-2	9.65	FYN LCK SYK
13	Decreased substrate adherent cell growth	GR00193-A-3	9.65	LCK
14	Decreased substrate adherent cell growth	GR00193-A-4	9.65	LCK
15	Decreased cell migration	GR00055-A-1	9.62	LCK PTPN6 SYK ZAP70
16	Reduced mammosphere formation	GR00396-S	9.43	CD5 FYN LCK PTPRC SYK ZAP70
17	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	immune system	MP:0005387	10.13	ACKR2 ACP1 CCR9 CD5 CXCL12 DLL1
2	hematopoietic system	MP:0005397	10.11	CCR9 CD5 CXCL12 DLL1 FYN LCK
3	endocrine/exocrine gland	MP:0005379	10.06	CCR9 DLL1 FUT1 FYN LCK PTPN6
4	no phenotypic analysis	MP:0003012	9.73	CD5 CXCL12 FYN PTPRC PTPRJ SYK
5	normal	MP:0002873	9.7	CD5 CXCL12 DLL1 PTPRC PTPRJ THY1
6	reproductive system	MP:0005389	9.5	ACKR2 CXCL12 FUT1 FYN LCK PTPN6
7	respiratory system	MP:0005388	9.1	PTPN6 PTPRC PTPRJ SYK THY1 ZAP70

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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

Fludarabine

Approved

Phase 1, Phase 2,Phase 2

75607-67-9, 21679-14-1

30751

Synonyms:

(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

21679-14-1

2-F-ara-A

2-F-ARAA

2F-Ara-AMP

2-fluoro ARA-A

2-Fluoro Ara-A

2-Fluoro-9-beta-D-arabinofuranosyladenine

2-Fluoroadenine arabinoside 5'-monophosphate

2-Fluoroadenine arabinoside 5'-monophosphoric acid

2-fluoro-ARA AMP

9 beta-D-Arabinofuranosyl-2-fluoroadenine monophosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine

9-beta-D-Arabinofuranosyl-2-fluoroadenine

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)

9-β-arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-β-arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

AC1LCW8I

AC1Q51CF

Beneflur

C10H12FN5O4

CCRIS 3382

CHEMBL1568

CID657237

CPD000058874

D07966

EINECS 244-525-5

FAMP

FaraA

F-Ara-A

FaraAMP

F-Ara-AMP

Fludara

Fludara, Fludarabine

Fludarabina

Fludarabina [Spanish]

Fludarabine

Fludarabine (INN)

Fludarabine [INN]

Fludarabine 5'-monophosphate

Fludarabine 5'-monophosphoric acid

Fludarabine monophosphate

Fludarabine monophosphoric acid

Fludarabine phosphate

Fludarabinum

Fludarabinum [Latin]

Fludura

fluoro-Ara-AMP

Fluradosa

Fluradosa (TN)

FT-0082766

HSDB 6964

I14-4978

LS-15061

MLS000028687

NSC 118218

NSC 118218H

NSC-118218

S1491_Selleck

SAM002548956

SMR000058874

SQ Fludarabine

UNII-1X9VK9O1SC

UNII-P2K93U8740

ZINC04216238

Thiotepa

Approved, Investigational

Phase 1, Phase 2

52-24-4

5453

Busulfan

Approved, Investigational

Phase 1, Phase 2

55-98-1

2478

Synonyms:

1, {4-Bis[methanesulfonoxy]butane}

1, 4-Dimethanesulfonoxybutane

1, 4-Dimethylsulfonoxybutane

1,4-Bis(methanesulfonoxy)butane

1,4-Bis(methanesulfonyloxy)butane

1,4-Bis(methanesulphonoxy)butane

1,4-Bis[methanesulfonoxy]butane

1,4-Butanedi yl dimethanesulfonate

1,4-Butanediol dimethanesulfonate

1,4-BUTANEDIOL DIMETHANESULFONATE

1,4-Butanediol dimethanesulfonic acid

1,4-Butanediol dimethanesulphonate

1,4-Butanediol dimethanesulphonic acid

1,4-Butanediol dimethylsulfonate

1,4-Butanediol, dimethanesulfonate

1,4-Butanediol, dimethanesulphonate

1,4-Butanediyl dimethanesulfonate

1,4-Di(methylsulfonoxy)butane

1,4-Dimesyloxybutane

1,4-Dimethane sulfonyl oxybutane

1,4-Dimethanesulfonoxybutane

1,4-Dimethanesulfonoxylbutane

1,4-Dimethanesulfonyloxybutane

1,4-Dimethanesulphonoxybutane

1,4-Dimethanesulphonyloxybutane

1,4-Dimethylsulfonoxybutane

1,4-Dimethylsulfonyloxybutane

2041 C. B

2041 C. B.

2041 C.B

2041 C.B.

4-((Methylsulfonyl)oxy)butyl methanesulfonate

4-methylsulfonyloxybutyl methanesulfonate

55-98-1

AC-198

AC1L1DRQ

AC1Q4GRQ

acid, tetramethylene ester

AI3-25012

AKOS003614975

alkylating agent: crosslinks guanine residues

Ambap55-98-1

AN 33501

B1022

B2635_FLUKA

B2635_SIGMA

Bisulfex

Bisulphex

BRN 1791786

BSPBio_001920

Busilvex

busulfan

Busulfan

BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)

Busulfan (JP15/USP/INN)

Busulfan [INN:JAN]

Busulfan glaxosmithkline brand

Busulfan GlaxoSmithKline Brand

Busulfan orphan brand

Busulfan Orphan Brand

Busulfan wellcome

Busulfan Wellcome

Busulfan wellcome brand

Busulfan Wellcome Brand

Busulfano

Busulfano [INN-Spanish]

Busulfanum

Busulfanum [INN-Latin]

Busulfex

Busulphan

Busulphane

Busulphano

Busulphanum

butane-1,4-diyl dimethanesulfonate

Butanedioldimethanesulfonate

Buzulfan

C.B. 2041

C6H14O6S2

CB 2041

CCRIS 418

CHEBI:28901

CHEMBL820

CID2478

Citosulfan

CPD000058613

D002066

D00248

DB01008

DivK1c_000847

EINECS 200-250-2

FT-0083567

G.T. 41

glaxo Wellcome brand OF busulfan

Glaxo Wellcome Brand of Busulfan

GlaxoSmithKline brand OF busulfan

GlaxoSmithKline Brand of Busulfan

Glyzophrol

GT 2041

GT 41

HMS1920I07

HMS2091O09

HMS502K09

HSDB 7605

I09-1371

IDI1_000847

InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3

KBio1_000847

KBio2_000512

KBio2_003080

KBio2_005648

KBio3_001420

KBioGR_000698

KBioSS_000512

Leucosulfan

Leucosulphan

LS-1358

Mablin

Methanesulfonic

Methanesulfonic acid, tetram ethylene ester

Methanesulfonic acid, tetramethylene ester

Mielevcin

Mielosan

Mielucin

Milecitan

Mileran

Misulban

Mitosan

Mitostan

MLS001076666

MolPort-001-783-406

Myeleukon

Myeloleukon

Myelosan

Myelosanum

Mylecytan

Myleran

Myléran

MYLERAN (TN)

Myleran tablets

Myleran Tablets

Myleran, Busulfex, Busulfan

Mylerlan

n-Butane-1,3-di(methylsulfonate)

N-Butane-1,3-di(methylsulfonate)

NCGC00090905-01

NCGC00090905-02

NCGC00090905-03

NCGC00090905-04

NCGC00090905-05

NCGC00090905-06

NCGC00090905-07

NCI60_041640

NCI-C01592

NCIMech_000192

NINDS_000847

NSC 750

NSC750

NSC-750

NSC-750sulphabutin

Orphan brand OF busulfan

Orphan Brand of Busulfan

Prestwick_989

S1692_Selleck

SAM002554887

SMR000058613

SPBio_000253

Spectrum_000092

SPECTRUM1500152

Spectrum2_000067

Spectrum3_000320

Spectrum4_000259

Spectrum5_000928

ST50825921

Sulfabutin

Sulfabutin (VAN)

Sulphabutin

Tetramethylene {bis[methanesulfonate]}

Tetramethylene bis(methanesulfonate)

Tetramethylene bis(methanesulfonic acid)

Tetramethylene bis(methanesulphonate)

Tetramethylene bis(methanesulphonic acid)

Tetramethylene bis[methanesulfonate]

Tetramethylene dimethane sulfonate

Tetramethylene Dimethane Sulfonate

Tetramethylenester kyseliny methansulfonove

Tetramethylenester Kyseliny Methansulfonove

Tetramethylenester kyseliny methansulfonove [Czech]

UNII-G1LN9045DK

Wellcome brand OF busulfan

Wellcome Brand of Busulfan

Wellcome, busulfan

Wellcome, Busulfan

WLN: WS1&O4OSW1

X 149

Immunosuppressive Agents

Phase 1, Phase 2

Antilymphocyte Serum

Phase 1, Phase 2

Antineoplastic Agents, Alkylating

Phase 1, Phase 2

Thymoglobulin

Phase 1, Phase 2

Alkylating Agents

Phase 1, Phase 2

Immunologic Factors

Phase 1, Phase 2

Antimetabolites

Phase 1, Phase 2

Antimetabolites, Antineoplastic

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)	Recruiting	NCT03597594	Phase 1, Phase 2	Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa

Search NIH Clinical Center for Cd45 Deficiency

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Genetic Tests for Cd45 Deficiency

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Anatomical Context for Cd45 Deficiency

MalaCards organs/tissues related to Cd45 Deficiency:

⁴¹

T Cells, Colon, B Cells, Thymus, Nk Cells

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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 )	Musci M.A....Koretzky G.A.	1997
3	Surface expression of a heterologous phosphatase complements CD45 deficiency in a T cell clone. ( 7931069 )	Motto D.G....Koretzky G.A.	1994

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Genes for Cd45 Deficiency

Genes related to Cd45 Deficiency (0 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PTPN6	Protein Tyrosine Phosphatase, Non-Receptor Type 6	Protein Coding	20.08	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	PTPRC	Protein Tyrosine Phosphatase, Receptor Type C	Protein Coding	16.42	DISEASES inferred ¹⁵
3	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	16.11	DISEASES inferred ¹⁵
4	FUT1	Fucosyltransferase 1 (H Blood Group)	Protein Coding	15.52	DISEASES inferred ¹⁵
5	PTPRJ	Protein Tyrosine Phosphatase, Receptor Type J	Protein Coding	15.34	DISEASES inferred ¹⁵
6	ACKR2	Atypical Chemokine Receptor 2	Protein Coding	14.82	DISEASES inferred ¹⁵
7	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	14.13	DISEASES inferred ¹⁵
8	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	14.07	DISEASES inferred ¹⁵
9	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	13.8	DISEASES inferred ¹⁵
10	CD5	CD5 Molecule	Protein Coding	13.24	DISEASES inferred ¹⁵
11	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	13.24	DISEASES inferred ¹⁵
12	ACP1	Acid Phosphatase 1	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)
13	CCR9	C-C Motif Chemokine Receptor 9	Protein Coding	4.95	DISEASES inferred ¹⁵
14	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	4.14	DISEASES inferred ¹⁵
15	THY1	Thy-1 Cell Surface Antigen	Protein Coding	3.78	DISEASES inferred ¹⁵

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Variations for Cd45 Deficiency

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Expression for Cd45 Deficiency

Search GEO for disease gene expression data for Cd45 Deficiency.

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Pathways for Cd45 Deficiency

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

(show top 50) (show all 52)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.38	FYN LCK PTPN6 PTPRC PTPRJ SYK
2	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.23	CCR9 CXCL12 DLL1 FYN PTPN6 PTPRC
3	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.99	CXCL12 FYN LCK SYK ZAP70
4	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.84	FYN LCK PTPRC SYK ZAP70
5	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.81	CCR9 CXCL12 FYN LCK PTPRC ZAP70
6	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.64	FYN LCK PTPN6 SYK
7	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.58	FYN LCK PTPRC SYK ZAP70
8	Immune response Fc epsilon RI pathway ²² Show member pathways Fc epsilon RI signaling pathway ³⁷ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²² VEGF signaling pathway ³⁷	12.51	FYN PTPN6 PTPRC SYK
9	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶⁴ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.5	CXCL12 FYN LCK PTPRC
10	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.46	FYN LCK PTPN6 SYK ZAP70
11	NF-kappaB Signaling ⁴	12.4	CXCL12 LCK PTPN6 PTPRC SYK ZAP70
12	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.37	FYN LCK PTPN6 PTPRC ZAP70
13	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	12.34	CXCL12 FYN LCK PTPN6 PTPRC
14	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.33	FYN LCK PTPRC SYK ZAP70
15	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.31	FYN LCK PTPN6 PTPRC SYK
16	TCR signaling (REACTOME) ⁶⁶ Show member pathways Downstream TCR signaling ⁶⁶	12.3	LCK PTPRC PTPRJ ZAP70
17	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.24	LCK PTPN6 PTPRC SYK ZAP70
18	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ VEGFR2 mediated vascular permeability ⁶⁶	12.13	FYN LCK PTPN6
19	G beta-gamma signalling through PI3Kgamma ⁶⁶ Show member pathways G-protein beta-gamma signalling ⁶⁶ GPVI-mediated activation cascade ⁶⁶	12.1	FYN LCK PTPN6 SYK
20	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	12.09	FYN PTPN6 SYK
21	Tyrosine Kinases / Adaptors ⁴	12.08	FYN LCK SYK ZAP70
22	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	12	FYN LCK SYK
23	Osteoclast differentiation ³⁷	11.98	FYN LCK SYK
24	Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions ⁶⁵ Show member pathways Chemokine receptors bind chemokines ⁶⁶	11.93	ACKR2 CCR9 CXCL12
25	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.92	CD5 PTPRC THY1
26	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	11.89	LCK PTPN6 SYK
27	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁶ Show member pathways B-Cell Receptor Complex ⁶⁴ CD22 mediated BCR regulation ⁶⁶ CLEC7A (Dectin-1) induces NFAT activation ⁶⁶ FCERI mediated Ca+2 mobilization ⁶⁶	11.87	FYN PTPN6 SYK
28	NF-kappa B signaling pathway ³⁷	11.84	CXCL12 LCK SYK ZAP70
29	Translocation of ZAP-70 to Immunological synapse ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶ Phosphorylation of CD3 and TCR zeta chains ⁶⁶	11.76	LCK PTPN6 PTPRC PTPRJ ZAP70
30	Jak-Stat Signaling Pathway (sino) ⁶⁷	11.71	CXCL12 FYN LCK PTPN6 PTPRC
31	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.69	FYN LCK PTPN6 PTPRC ZAP70
32	G-protein signaling_RhoA regulation pathway ²²	11.66	CXCL12 FYN LCK ZAP70
33	Adherens junction ³⁷	11.65	ACP1 FYN PTPN6 PTPRJ
34	CTLA4 Signaling ⁶⁴	11.63	FYN LCK SYK ZAP70
35	NF-kB (NFkB) Pathway ⁶⁷	11.62	FYN LCK SYK ZAP70
36	B Cell Development Pathways ⁶⁵	11.55	CD5 PTPRC THY1
37	DNA damage_Role of Brca1 and Brca2 in DNA repair ²²	11.55	FYN LCK PTPRC ZAP70
38	amb2 Integrin signaling ¹	11.49	FYN LCK THY1
39	PDGFR-beta signaling pathway ¹	11.47	ACP1 FYN LCK PTPRJ
40	Thromboxane A2 receptor signaling ¹	11.46	FYN LCK SYK
41	Primary immunodeficiency ³⁷	11.35	LCK PTPRC ZAP70
42	Alpha-synuclein signaling ¹	11.28	FYN LCK SYK
43	CXCR4-mediated signaling events ¹	11.23	CXCL12 FYN LCK PTPN6 PTPRC
44	Telomere Extension by Telomerase ⁶⁴ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁶	11.16	LCK PTPN6 SYK
45	Ephrin B reverse signaling ¹	11.14	FYN LCK
46	Regulation of p38-alpha and p38-beta ¹	11.14	FYN LCK
47	Glypican 1 network ¹	11.12	FYN LCK
48	Regulation of signaling by CBL ⁶⁶	10.95	FYN SYK
49	T-Cell Receptor and Co-stimulatory Signaling ¹	10.95	FYN LCK PTPN6 ZAP70
50	Regulation of KIT signaling ⁶⁶	10.9	FYN LCK PTPN6

Sources

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	extracellular exosome	GO:0070062	9.98	ACP1 CXCL12 LCK PTPN6 PTPRC PTPRJ
2	integral component of plasma membrane	GO:0005887	9.76	ACKR2 CCR9 CD5 DLL1 FUT1 PTPRC
3	cell-cell junction	GO:0005911	9.63	PTPN6 PTPRJ ZAP70
4	immunological synapse	GO:0001772	9.54	LCK PTPRJ ZAP70
5	external side of plasma membrane	GO:0009897	9.43	ACKR2 CCR9 CD5 CXCL12 PTPRC THY1
6	T cell receptor complex	GO:0042101	9.4	SYK ZAP70
7	membrane raft	GO:0045121	9.1	DLL1 FYN LCK PTPRC THY1 ZAP70
8	membrane	GO:0016020	10.17	ACKR2 ACP1 CCR9 CD5 DLL1 FUT1
9	plasma membrane	GO:0005886	10.03	ACKR2 CCR9 CD5 CXCL12 DLL1 FYN

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

(show all 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	intracellular signal transduction	GO:0035556	9.97	FYN PTPN6 SYK ZAP70
2	viral process	GO:0016032	9.96	CXCL12 FYN LCK SYK
3	dephosphorylation	GO:0016311	9.86	PTPN6 PTPRC PTPRJ
4	positive regulation of protein kinase B signaling	GO:0051897	9.85	FYN LCK PTPRJ
5	chemotaxis	GO:0006935	9.83	ACKR2 CCR9 CXCL12
6	protein autophosphorylation	GO:0046777	9.81	FYN SYK THY1 ZAP70
7	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.76	PTPRC PTPRJ SYK
8	B cell receptor signaling pathway	GO:0050853	9.76	LCK PTPN6 PTPRC SYK
9	cell chemotaxis	GO:0060326	9.75	ACKR2 CCR9 CXCL12
10	platelet activation	GO:0030168	9.73	FYN LCK PTPN6 SYK
11	chemokine-mediated signaling pathway	GO:0070098	9.72	ACKR2 CCR9 CXCL12
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	leukocyte cell-cell adhesion	GO:0007159	9.68	PTPRC SYK
15	regulation of ERK1 and ERK2 cascade	GO:0070372	9.68	PTPN6 SYK
16	regulation of defense response to virus by virus	GO:0050690	9.67	FYN LCK
17	T cell differentiation	GO:0030217	9.67	LCK PTPRC ZAP70
18	positive regulation of focal adhesion assembly	GO:0051894	9.66	PTPRJ THY1
19	positive regulation of T cell activation	GO:0050870	9.65	LCK THY1
20	calcium-mediated signaling using intracellular calcium source	GO:0035584	9.65	PTPRC PTPRJ
21	peptidyl-tyrosine phosphorylation	GO:0018108	9.65	FYN LCK PTPN6 SYK ZAP70
22	positive regulation of T cell differentiation	GO:0045582	9.64	PTPRC ZAP70
23	positive regulation of calcium-mediated signaling	GO:0050850	9.64	SYK ZAP70
24	positive regulation of heterotypic cell-cell adhesion	GO:0034116	9.63	LCK THY1
25	negative regulation of protein tyrosine kinase activity	GO:0061099	9.63	PTPRC THY1
26	positive regulation of cell adhesion mediated by integrin	GO:0033630	9.62	PTPN6 SYK
27	negative regulation of peptidyl-tyrosine phosphorylation	GO:0050732	9.62	PTPN6 PTPRC
28	detection of mechanical stimulus involved in sensory perception of pain	GO:0050966	9.61	CXCL12 FYN
29	negative thymic T cell selection	GO:0045060	9.61	PTPRC ZAP70
30	positive thymic T cell selection	GO:0045059	9.6	PTPRC ZAP70
31	regulation of B cell differentiation	GO:0045577	9.59	PTPN6 PTPRC
32	positive regulation of alpha-beta T cell differentiation	GO:0046638	9.57	SYK ZAP70
33	regulation of phagocytosis	GO:0050764	9.56	PTPRC SYK
34	positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	GO:1905451	9.54	PTPRC PTPRJ
35	negative regulation of T cell receptor signaling pathway	GO:0050860	9.54	PTPN6 PTPRJ THY1
36	positive regulation of gamma-delta T cell differentiation	GO:0045588	9.52	PTPRC SYK
37	beta selection	GO:0043366	9.48	SYK ZAP70
38	positive regulation of alpha-beta T cell proliferation	GO:0046641	9.33	PTPRC SYK ZAP70
39	T cell costimulation	GO:0031295	9.26	CD5 FYN LCK PTPN6
40	T cell receptor signaling pathway	GO:0050852	9.1	FYN LCK PTPRC PTPRJ THY1 ZAP70

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	9.84	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 kinase binding	GO:0019901	9.63	LCK PTPN6 PTPRC PTPRJ SYK THY1
6	protein tyrosine phosphatase activity	GO:0004725	9.62	ACP1 PTPN6 PTPRC PTPRJ
7	chemokine binding	GO:0019956	9.58	ACKR2 CCR9
8	C-C chemokine binding	GO:0019957	9.58	ACKR2 CCR9
9	SH2 domain binding	GO:0042169	9.58	LCK PTPN6 SYK
10	C-C chemokine receptor activity	GO:0016493	9.57	ACKR2 CCR9
11	chemokine receptor activity	GO:0004950	9.56	ACKR2 CCR9
12	phosphoprotein phosphatase activity	GO:0004721	9.56	ACP1 PTPN6 PTPRC PTPRJ
13	phosphatidylinositol 3-kinase binding	GO:0043548	9.55	FYN LCK
14	transmembrane receptor protein tyrosine phosphatase activity	GO:0005001	9.49	PTPN6 PTPRC
15	CD4 receptor binding	GO:0042609	9.48	FYN LCK
16	T cell receptor binding	GO:0042608	9.46	FYN LCK
17	CD8 receptor binding	GO:0042610	9.37	FYN LCK
18	non-membrane spanning protein tyrosine kinase activity	GO:0004715	9.26	FYN LCK SYK ZAP70
19	phosphotyrosine residue binding	GO:0001784	8.92	LCK PTPN6 SYK ZAP70

Sources

Sources for Cd45 Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia