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

MCID: CD4001 MIFTS: 36	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 Busulfan and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and colon, and related phenotypes are Decreased cell migration and Decreased substrate adherent cell growth

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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 16)

#	Related Disease	Score	Top Affiliating Genes
1	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	11.4
2	autoimmune cardiomyopathy	10.3	LCK ZAP70
3	spindle cell thymoma	10.2	CD5 LCK
4	dendritic cell thymoma	10.2	CD5 LCK
5	epithelial malignant thymoma	10.2	CD5 LCK
6	b cell linker protein deficiency	10.1	CD5 SYK
7	colon lymphoma	10.1	CD5 PTPRC
8	b cell prolymphocytic leukemia	10.1	CD5 ZAP70
9	cll/sll	10.0	CD5 ZAP70
10	mantle cell lymphoma	9.9	CD5 PTPRC SYK
11	epidural neoplasm	9.9	CD5 PTPRC
12	alzheimer disease	9.8
13	thymoma	9.8	CD5 LCK PTPRC THY1
14	lymphoma, non-hodgkin, familial	9.7	CD5 CXCL12 PTPRC SYK
15	leukemia, chronic lymphocytic	9.6	CD5 CXCL12 SYK ZAP70
16	hematologic cancer	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:

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

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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

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

Thiotepa

Approved, Investigational

Phase 1, Phase 2

52-24-4

5453

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

Antineoplastic Agents, Alkylating

Phase 1, Phase 2

Alkylating Agents

Phase 1, Phase 2

Antilymphocyte Serum

Phase 1, Phase 2

Immunologic Factors

Phase 1, Phase 2

Thymoglobulin

Phase 1, Phase 2

Antimetabolites, Antineoplastic

Phase 1, Phase 2

Antimetabolites

Phase 1, Phase 2

Immunosuppressive Agents

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:

⁴²

B Cells, T Cells, Colon, Nk Cells

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Publications for Cd45 Deficiency

Articles related to Cd45 Deficiency:

#	Title	Authors	Year
1	CD45 deficiency drives amyloid-β peptide oligomers and neuronal loss in Alzheimer's disease mice. ( 21273420 )	Zhu Y...Tan J	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 MA...Koretzky GA	1997
3	Surface expression of a heterologous phosphatase complements CD45 deficiency in a T cell clone. ( 7931069 )	Motto DG...Koretzky GA	1994

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Genes for Cd45 Deficiency

Genes related to Cd45 Deficiency (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PTPN6	Protein Tyrosine Phosphatase Non-Receptor Type 6	Protein Coding	20.03	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	16.43	DISEASES inferred ¹⁵
3	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	16.1	DISEASES inferred ¹⁵
4	FUT1	Fucosyltransferase 1 (H Blood Group)	Protein Coding	15.49	DISEASES inferred ¹⁵
5	PTPRJ	Protein Tyrosine Phosphatase Receptor Type J	Protein Coding	15.35	DISEASES inferred ¹⁵
6	ACKR2	Atypical Chemokine Receptor 2	Protein Coding	14.59	DISEASES inferred ¹⁵
7	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	14.15	DISEASES inferred ¹⁵
8	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	14.08	DISEASES inferred ¹⁵
9	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	13.79	DISEASES inferred ¹⁵
10	CD5	CD5 Molecule	Protein Coding	13.25	DISEASES inferred ¹⁵
11	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	13.25	DISEASES inferred ¹⁵
12	PLCG1	Phospholipase C Gamma 1	Protein Coding	12.96	DISEASES inferred ¹⁵
13	ACP1	Acid Phosphatase 1	Protein Coding	6.5	GeneCards inferred via : Publications (show sections)
14	CCR9	C-C Motif Chemokine Receptor 9	Protein Coding	4.91	DISEASES inferred ¹⁵
15	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	4.14	DISEASES inferred ¹⁵
16	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 64)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁷ Show member pathways Adaptive Immune System ⁶⁷ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁷	13.42	FYN LCK PLCG1 PTPN6 PTPRC PTPRJ
2	PAK Pathway ⁶⁵ Show member pathways Antioxidant Action of Vitamin-C ⁶⁵ Epithelial Adherens Junctions ⁶⁵	13.27	CCR9 CXCL12 DLL1 FYN PLCG1 PTPN6
3	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	13.05	CXCL12 FYN LCK PLCG1 SYK ZAP70
4	TCR Signaling (Qiagen) ⁶⁵ Show member pathways Fc-EpsilonRI Pathway ⁶⁵ ITK and TCR Signaling ⁶⁵ PKC-Theta Pathway ⁶⁵ TCR Signaling ⁶⁵	12.9	FYN LCK PLCG1 PTPRC SYK ZAP70
5	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.88	CXCL12 FYN PLCG1 SYK ZAP70
6	Allograft rejection ³⁸ ¹ Show member pathways Antigen processing and presentation ³⁸ Asthma ³⁸ Autoimmune thyroid disease ³⁸ CTL Mediated Apoptosis ⁶⁵ Graft-versus-host disease ³⁸ Intestinal immune network for IgA production ³⁸ THC Differentiation Pathway ⁶⁵ Type I diabetes mellitus ³⁸ Viral myocarditis ³⁸	12.83	CCR9 CXCL12 FYN LCK PLCG1 PTPRC
7	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.72	FYN LCK PLCG1 PTPN6 SYK
8	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.6	FYN LCK PLCG1 PTPRC SYK ZAP70
9	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁸ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁸	12.58	FYN PLCG1 PTPN6 PTPRC SYK
10	Th17 cell differentiation ³⁸ Show member pathways IL-22 Pathway ⁶⁵ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease (IBD) ³⁸ Th1 and Th2 cell differentiation ³⁸	12.55	DLL1 LCK PLCG1 ZAP70
11	Development Dopamine D2 receptor transactivation of EGFR ²³ Show member pathways Apoptosis and survival BAD phosphorylation ²³ BAD Phosphorylation ⁶⁵ Chemotaxis CXCR4 signaling pathway ²³ Development Alpha-2 adrenergic receptor activation of ERK ²³	12.53	CXCL12 FYN LCK PTPRC
12	NF-kappaB Signaling ⁴	12.53	CXCL12 LCK PTPN6 PTPRC SYK ZAP70
13	T cell receptor signaling pathway ³⁸ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁸ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.51	FYN LCK PLCG1 PTPN6 PTPRC ZAP70
14	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁸	12.48	FYN LCK PLCG1 PTPN6 SYK ZAP70
15	Prolactin Signaling Pathway ¹ ³⁸ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.45	FYN PLCG1 PTPN6 ZAP70
16	JAK-STAT signaling pathway (KEGG) ⁶⁶ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁷ JAK-STAT signaling pathway ³⁸	12.39	CXCL12 FYN LCK PTPN6 PTPRC
17	TCR signaling (REACTOME) ⁶⁷ Show member pathways TCR signaling ⁶⁷	12.36	LCK PLCG1 PTPRC PTPRJ ZAP70
18	B Cell Receptor Signaling Pathway (sino) ⁶⁸ Show member pathways T Cell Receptor Signaling Pathway ⁶⁸	12.33	LCK PTPN6 PTPRC SYK ZAP70
19	ICos-ICosL Pathway in T-Helper Cell ⁶⁵ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁵ CD28 Signaling in T-Helper Cell ⁶⁵	12.33	FYN LCK PLCG1 PTPRC SYK ZAP70
20	B cell receptor signaling pathway (KEGG) ³⁸ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.31	FYN LCK PLCG1 PTPN6 PTPRC SYK
21	Cell surface interactions at the vascular wall ⁶⁷ Show member pathways Fibronectin matrix formation ⁶⁷ PECAM1 interactions ⁶⁷ Tie2 Signaling ⁶⁷	12.23	FYN LCK PLCG1 PTPN6
22	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	12.19	CCR9 CXCL12 PLCG1 SYK THY1
23	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	12.17	FYN PLCG1 PTPN6 SYK
24	G beta-gamma signalling through PI3Kgamma ⁶⁷ Show member pathways G-protein beta-gamma signalling ⁶⁷ GPVI-mediated activation cascade ⁶⁷	12.14	FYN LCK PTPN6 SYK
25	Tyrosine Kinases / Adaptors ⁴	12.13	FYN LCK SYK ZAP70
26	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	12.03	FYN LCK SYK
27	Osteoclast differentiation ³⁸	12.01	FYN LCK SYK
28	Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions ⁶⁶ Show member pathways Chemokine receptors bind chemokines ⁶⁷	11.95	ACKR2 CCR9 CXCL12
29	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁶	11.95	CD5 PTPRC THY1
30	EPHA forward signaling ¹ Show member pathways EPHA-mediated growth cone collapse ⁶⁷ Ephrin A reverse signaling ¹ EphrinA-EPHA pathway ¹ EphrinA-EphR Signaling ⁶⁵	11.95	FYN LCK PLCG1
31	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁷ Show member pathways B-Cell Receptor Complex ⁶⁵ CD22 mediated BCR regulation ⁶⁷ CLEC7A (Dectin-1) induces NFAT activation ⁶⁷ FCERI mediated Ca+2 mobilization ⁶⁷	11.94	FYN PLCG1 PTPN6 SYK
32	Immune response IL-2 activation and signaling pathway ²³ Show member pathways Immune response IL-3 activation and signaling pathway ²³	11.92	LCK PTPN6 SYK
33	S-1P Stimulated Signaling ⁶⁵	11.89	LCK PLCG1 ZAP70
34	Development EPO-induced Jak-STAT pathway ²³ Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.87	PLCG1 PTPN6 PTPRC
35	Jak-Stat Signaling Pathway (sino) ⁶⁸	11.85	CXCL12 FYN LCK PTPN6 PTPRC
36	Signaling events mediated by VEGFR1 and VEGFR2 ¹ Show member pathways VEGFR1 specific signals ¹	11.84	FYN PLCG1 PTPN6
37	Fc gamma R-mediated phagocytosis ³⁸	11.83	PLCG1 PTPRC SYK
38	NF-kappa B signaling pathway ³⁸	11.83	CXCL12 LCK PLCG1 SYK ZAP70
39	Adherens junction ³⁸	11.74	ACP1 FYN PTPN6 PTPRJ
40	NF-kB (NFkB) Pathway ⁶⁸	11.73	FYN LCK SYK ZAP70
41	G-protein signaling_RhoA regulation pathway ²³	11.72	CXCL12 FYN LCK PLCG1 ZAP70
42	CXCR4-mediated signaling events ¹	11.68	CXCL12 FYN LCK PTPN6 PTPRC
43	Translocation of ZAP-70 to Immunological synapse ⁶⁷ Show member pathways Generation of second messenger molecules ⁶⁷ PD-1 signaling ⁶⁷ Phosphorylation of CD3 and TCR zeta chains ⁶⁷	11.67	LCK PLCG1 PTPN6 PTPRC PTPRJ ZAP70
44	Role of phospholipids in phagocytosis ⁶⁷ Show member pathways FCGR activation ⁶⁷	11.62	FYN PLCG1 SYK
45	CTLA4 Signaling ⁶⁵	11.62	FYN LCK PLCG1 SYK ZAP70
46	B Cell Development Pathways ⁶⁶	11.58	CD5 PTPRC THY1
47	DNA damage_Role of Brca1 and Brca2 in DNA repair ²³	11.56	FYN LCK PLCG1 PTPRC ZAP70
48	amb2 Integrin signaling ¹	11.53	FYN LCK THY1
49	Thromboxane A2 receptor signaling ¹	11.5	FYN LCK SYK
50	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.47	FYN LCK PLCG1 PTPN6 PTPRC ZAP70

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	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

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia