Primary Thrombocytopenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Primary Thrombocytopenia is related to bleeding disorder, platelet-type, 16 and autosomal dominant macrothrombocytopenia. An important gene associated with Primary Thrombocytopenia is ICOSLG (Inducible T Cell Costimulator Ligand), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Dimethyl sulfoxide and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and bone, and related phenotypes are no effect and no effect

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Related Diseases for Primary Thrombocytopenia

Diseases in the Thrombocytopenia family:

Thrombocytopenia 2	Thrombocytopenia 3
Thrombocytopenia 1	Thrombocytopenia 4
Thrombocytopenia 5	Thrombocytopenia 6
Thrombocytopenia 7	Acquired Thrombocytopenia
Thrombocytopenia Due to Platelet Alloimmunization	Primary Thrombocytopenia
Ankrd26-Related Thrombocytopenia

Diseases related to Primary Thrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 522)

#	Related Disease	Score	Top Affiliating Genes
1	bleeding disorder, platelet-type, 16	30.6	ITGB3 ITGA2B
2	autosomal dominant macrothrombocytopenia	30.6	ITGB3 ITGA2B
3	thrombocytopenic purpura, autoimmune	30.1	THPO PF4 MPL LRBA ITGB3 ITGA2B
4	essential thrombocythemia	29.9	VWF THPO PF4 MPL ITGB3 ITGA2B
5	thrombophilia due to thrombin defect	29.8	VWF PF4 F3 F2
6	thrombocythemia 1	29.8	THPO MPL
7	myeloproliferative neoplasm	29.8	VWF THPO PF4 MPL ITGB3
8	thrombocytosis	29.7	VWF THPO PF4 MPL F3 F2
9	myelodysplastic syndrome	29.6	THPO MPL ICOSLG CD8A CD4 CD19
10	thrombosis	29.4	VWF PF4 MPL ITGB3 ITGA2B F3
11	thrombocytopenia	28.9	VWF TNFSF13B THPO PF4 MPL ITGB3
12	hilar lung neoplasm	10.4	CD8A CD4
13	dyskeratosis congenita, autosomal dominant 6	10.4	THPO MPL
14	oral tuberculosis	10.4	CD8A CD4
15	early yaws	10.4	CD8A CD4
16	fetal and neonatal alloimmune thrombocytopenia	10.4	ITGB3 ITGA2B
17	ventilation pneumonitis	10.4	CD8A CD4
18	diffuse infiltrative lymphocytosis syndrome	10.4	CD8A CD4
19	wissler-fanconi syndrome	10.4	CD8A CD4
20	basilar artery occlusion	10.4	ITGA2B F3
21	autoimmune lymphoproliferative syndrome, type iia	10.4	CD8A CD4
22	achenbach syndrome	10.4	F3 F2
23	encephalitozoonosis	10.4	CD8A CD4
24	type 1 diabetes mellitus 23	10.4	CD8A CD4
25	pollen allergy	10.4	ICOSLG CD4 CCR6
26	cork-handlers' disease	10.4	CD8A CD4
27	legume allergy	10.4	ICOSLG CD4 CCR6
28	fruit allergy	10.4	ICOSLG CD4 CCR6
29	myelitis	10.4	ITGB3 ITGA2B CCR6
30	peanut allergy	10.4	ICOSLG CD4 CCR6
31	chronic conjunctivitis	10.4	ICOSLG CD4 CCR6
32	congenital hypogammaglobulinemia	10.4	CD4 CD19
33	amegakaryocytic thrombocytopenia, congenital	10.4	THPO MPL ITGA2B
34	synovial angioma	10.4	F3 F2
35	acute asthma	10.4	ICOSLG CD4 CCR6
36	intestinal schistosomiasis	10.4	ICOSLG CD4 CCR6
37	thymic dysplasia	10.4	ICOSLG CD8A CD4
38	malignant gastric germ cell tumor	10.4	ITGB3 ITGA2B
39	childhood type dermatomyositis	10.4	ICOSLG CD4 CCR6
40	autoimmune peripheral neuropathy	10.4	ICOSLG CD8A CD4
41	autoimmune pancreatitis	10.4	ICOSLG CD4 CCR6
42	follicular mucinosis	10.4	CD8A CD4
43	emphysematous cholecystitis	10.4	F3 F2
44	posterior uveitis	10.4	ICOSLG CD4 CCR6
45	autoimmune polyendocrine syndrome type 1	10.4	ICOSLG CD4 CCR6
46	femoral neuropathy	10.4	F3 F2
47	immunodeficiency 13	10.4	ICOSLG CD8A CD4
48	suppurative lymphadenitis	10.4	CD8A CD4
49	blue toe syndrome	10.4	F3 F2
50	henoch-schoenlein purpura	10.4	ICOSLG CD4 CCR6

Comorbidity relations with Primary Thrombocytopenia via Phenotypic Disease Network (PDN):

Acquired Thrombocytopenia	Active Peptic Ulcer Disease
Acute Cystitis	Deficiency Anemia
Familial Atrial Fibrillation	Heart Disease
Hypersplenism	Hypothyroidism
Neutropenia	Retinitis Pigmentosa and Erythrocytic Microcytosis

Graphical network of the top 20 diseases related to Primary Thrombocytopenia:

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Symptoms & Phenotypes for Primary Thrombocytopenia

GenomeRNAi Phenotypes related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.17	ADAMTS13 CCR6 CD19 CD4 CD52 CD8A
2	no effect	GR00402-S-2	10.17	ADAMTS13 CCR6 CD19 CD4 F2 F3

MGI Mouse Phenotypes related to Primary Thrombocytopenia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.25	ADAMTS13 CCR6 CD19 CD4 F2 F3
2	normal	MP:0002873	10.07	ADAMTS13 CCR6 CD19 CD52 CD8A F2
3	cellular	MP:0005384	9.93	CD19 CD4 CD8A F2 F3 FCGR2A
4	digestive/alimentary	MP:0005381	9.91	CD19 CD4 F2 FCGR2A FCGR2B ITGA2B
5	immune system	MP:0005387	9.91	ADAMTS13 CCR6 CD19 CD4 CD8A F2
6	hematopoietic system	MP:0005397	9.6	ADAMTS13 CCR6 CD19 CD4 CD8A F2

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Drugs & Therapeutics for Primary Thrombocytopenia

Drugs for Primary Thrombocytopenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Dimethyl sulfoxide

Approved, Vet_approved

Phase 4

67-68-5

679

2

Protective Agents

Phase 4

3

Antioxidants

Phase 4

4

Antibodies

Phase 3

5

Pharmaceutical Solutions

Phase 3

6

Immunoglobulins, Intravenous

Phase 3

7

Immunoglobulins

Phase 3

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Experimental Protocol for the Infusion of Platelets,Cryopreserved With Dimethyl Sulphoxide (DMSO) and Obtained From Multiple Donors Buffy Coats, in Patients With Severe Thrombocytopenia	Terminated	NCT02032134	Phase 4
2	Prospective, Open-label, Non-controlled, Multicenter, Phase III Clinical Study to Evaluate the Efficacy and Safety of Immunoglobulin Intravenous (Human) 10% (NewGam) in Primary Immune Thrombocytopenia	Completed	NCT01349790	Phase 3	NewGam
3	Use of TPO-mimetics to Prepare for Splenectomy in Adult Patients With Primary Immune Thrombocytopenia. Brooklyn Observational Retrospective Study.	Completed	NCT02063763

Search NIH Clinical Center for Primary Thrombocytopenia

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Genetic Tests for Primary Thrombocytopenia

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Anatomical Context for Primary Thrombocytopenia

Organs/tissues related to Primary Thrombocytopenia:

MalaCards : Bone Marrow, Spleen, Bone

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Publications for Primary Thrombocytopenia

Articles related to Primary Thrombocytopenia:

(show all 18)

#	Title	Authors	PMID	Year
1	Patterns of Outpatient Phecodes Predating the Diagnosis of Systemic Lupus Erythematosus in Taiwanese Women. ⁶²	Lu MC...Koo M	36143053	2022
2	Successful treatment in one myelodysplastic syndrome patient with primary thrombocytopenia and secondary deep vein thrombosis: A case report. ⁶²	Liu WB...Tong HX	35663076	2022
3	Eltrombopag post autologous hematopoietic stem cell transplant - an emerging indication in younger pediatric patients. ⁶²	Gupta AK...Seth R	34079631	2021
4	Platelet polyphosphate level is elevated in patients with chronic primary thrombocytopenia: A preliminary study. ⁶²	Zurawska-Plaksej E...Usnarska-Zubkiewicz L	32946685	2020
5	[Clinical Characteristics and Bone Marrow Histopathology Features in Essential Thrombocythaemia Patients with Different Gene Mutation in China]. ⁶²	Ye XP...Bao S	32798421	2020
6	Romiplostim and Eltrombopag in Immune Thrombocytopenia as a Second-Line Treatment. ⁶²	Bidika E...Cancarevic I	32968581	2020
7	Safety and Efficacy of Eltrombopag in Post-hematopoietic Stem Cell Transplantation (HSCT) Thrombocytopenia. ⁶²	Raut SS...Shukla SN	26306064	2015
8	Deep vein thrombosis after arthroscopic anterior cruciate ligament reconstruction in a patient with primary thrombocytopenia. ⁶²	Kang H...Yu D	25230271	2014
9	Laparoscopic versus open splenectomy: the impact of spleen size on outcomes. ⁶²	Ardestani A...Tavakkoli A	23781954	2013
10	[Economic evaluation of Thrombopoietin Receptor Agonists in the treatment of chronic primary immune thrombocytopenia]. ⁶²	Parrondo J...Villa G	23789796	2013
11	Research and development of the effective components of panaxdiol saponin as new Chinese patent medicine for treating hemocytopenia. ⁶²	Gao RL...Chong BH	23238997	2012
12	[Practical comments on the use of immunoglobulins]. ⁶²	Lewandowicz-Uszynska A...Swierkot J	21751557	2011
13	Analysis of the impact and burden of illness of adult chronic ITP in the US. ⁶²	Saleh MN...Grotzinger KM	19835465	2009
14	Attenuated form of Evans syndrome among pediatric ITP patients. ⁶²	Dash S...Trehan A	16651673	2006
15	Are there "Attenuated" Forms of Evans Syndrome? ⁶²	Ruiz-Arguelles GJ...Alarcon-Segovia D	27405699	2001
16	[A management program for primary thrombocytopenia]. ⁶²	Knutsen H...Bruserud O	10553341	1999
17	[Recurrent hemolytic uremic syndrome (author's transl)]. ⁶²	Kreisinger J...Janda J	7421869	1980
18	Splenectomy for primary thrombocytopenia. ⁶²	RINGER NE...INGALA A	14811367	1951

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Genes for Primary Thrombocytopenia

Genes related to Primary Thrombocytopenia (0 elite genes):

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	8.63	DISEASES inferred ¹⁴ ¹⁴
2	THPO	Thrombopoietin	Protein Coding	8.18	DISEASES inferred ¹⁴
3	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	7.94	DISEASES inferred ¹⁴
4	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	7.86	DISEASES inferred ¹⁴
5	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	7.7	DISEASES inferred ¹⁴ ¹⁴
6	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	6.98	DISEASES inferred ¹⁴
7	CD4	CD4 Molecule	Protein Coding	6.95	DISEASES inferred ¹⁴
8	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	6.68	DISEASES inferred ¹⁴
9	F3	Coagulation Factor III, Tissue Factor	Protein Coding	6.66	DISEASES inferred ¹⁴
10	CD8A	CD8a Molecule	Protein Coding	6.57	DISEASES inferred ¹⁴
11	ITGB3	Integrin Subunit Beta 3	Protein Coding	6.54	DISEASES inferred ¹⁴
12	PF4	Platelet Factor 4	Protein Coding	6.53	DISEASES inferred ¹⁴
13	HP	Haptoglobin	Protein Coding	6.52	DISEASES inferred ¹⁴
14	F2	Coagulation Factor II, Thrombin	Protein Coding	6.5	DISEASES inferred ¹⁴
15	CD19	CD19 Molecule	Protein Coding	6.47	DISEASES inferred ¹⁴
16	CD52	CD52 Molecule	Protein Coding	6.45	DISEASES inferred ¹⁴
17	FCGR2B	Fc Gamma Receptor IIb	Protein Coding	6.44	DISEASES inferred ¹⁴
18	FCGR2A	Fc Gamma Receptor IIa	Protein Coding	6.39	DISEASES inferred ¹⁴
19	VWF	Von Willebrand Factor	Protein Coding	6.33	DISEASES inferred ¹⁴
20	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	6.3	DISEASES inferred ¹⁴
21	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	6.22	DISEASES inferred ¹⁴ ¹⁴
22	IL10	Interleukin 10	Protein Coding	6.15	DISEASES inferred ¹⁴
23	IL6	Interleukin 6	Protein Coding	6.15	DISEASES inferred ¹⁴
24	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	6.12	DISEASES inferred ¹⁴
25	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	6.09	DISEASES inferred ¹⁴
26	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	6.08	DISEASES inferred ¹⁴
27	CD40LG	CD40 Ligand	Protein Coding	6.05	DISEASES inferred ¹⁴
28	RHCE	Rh Blood Group CcEe Antigens	Protein Coding	6.05	DISEASES inferred ¹⁴
29	ATP12A	ATPase H+/K+ Transporting Non-Gastric Alpha2 Subunit	Protein Coding	6.05	DISEASES inferred ¹⁴

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Variations for Primary Thrombocytopenia

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Expression for Primary Thrombocytopenia

Search GEO for disease gene expression data for Primary Thrombocytopenia.

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Pathways for Primary Thrombocytopenia

Pathways related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.78	TNFSF13B ICOSLG HP FCGR2B FCGR2A F2
2	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.15	TNFSF13B THPO PF4 ITGB3 ITGA2B CD4
3	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways "Platelet activation, signaling and aggregation" ⁶⁶ Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet degranulation ⁶⁶	12.99	VWF THPO PF4 MPL ITGB3 ITGA2B
4	Diseases of hemostasis ⁶⁶ Show member pathways Blood clotting cascade ⁷⁴ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Complement and coagulation cascades ⁷⁴ Defective F8 binding to von Willebrand factor ⁶⁶ Defective F8 cleavage by thrombin ⁶⁶ Defective F8 sulfation at Y1699 ⁶⁶ Defective F9 activation ⁶⁶ Defective F9 secretion ⁶⁶ Defective factor IX causes hemophilia B ⁶⁶ Defective factor VIII causes hemophilia A ⁶⁶ Defective factor XII causes hereditary angioedema ⁶⁶ Defective gamma-carboxylation of F9 ⁶⁶ Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶ Thrombin/protease-activated receptor (PAR) pathway ⁶¹	12.27	VWF PF4 F3 F2
5	Angiogenesis (CST) ³	11.62	VWF ITGB3 F3
6	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.62	VWF THPO MPL ITGB3 ITGA2B F2
7	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.62	THPO MPL ITGB3 ITGA2B FCGR2A CD8A
8	Innate Lymphoid Cells Differentiation ⁶⁵	11.51	CD8A CD4 CCR6
9	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.45	CD8A CD4 CD19
10	"Platelet Aggregation Inhibitor Pathway, Pharmacodynamics" ⁶⁰	11.27	VWF ITGB3 ITGA2B F2
11	Signaling events mediated by PTP1B ⁶¹	11.21	FCGR2A ITGA2B ITGB3
12	G-protein signaling_Rap2B regulation pathway ²²	10.78	TNFSF13B THPO PF4 ITGB3 ITGA2B
13	"Heparin-induced Thrombocytopenia Pathway, Adverse Drug Reaction" ⁶⁰	10.74	PF4 ITGB3 ITGA2B FCGR2A F3 F2

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GO Terms for Primary Thrombocytopenia

Cellular components related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.23	CCR6 CD19 CD4 CD8A F3 FCGR2A
2	plasma membrane	GO:0005887	10.23	CCR6 CD19 CD4 CD8A F3 FCGR2A
3	membrane	GO:0016021	10.17	CCR6 CD19 CD4 CD52 CD8A F3
4	membrane	GO:0016020	10.17	CCR6 CD19 CD4 CD52 CD8A F3
5	cell surface	GO:0009986	10.07	MPL ITGB3 ITGA2B F3 CD4 CCR6
6	external side of plasma membrane	GO:0009897	9.64	MPL ITGB3 ITGA2B ICOSLG FCGR2B F3

Biological processes related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	immune response	GO:0006955	10.1	TNFSF13B PF4 FCGR2B CD8A CD4 CCR6
2	immune system process	GO:0002376	9.91	CD19 CD4 CD8A FCGR2A HP ICOSLG
3	defense response	GO:0006952	9.87	PF4 ICOSLG HP FCGR2B
4	regulation of immune response	GO:0050776	9.83	TNFSF13B FCGR2B FCGR2A
5	blood coagulation	GO:0007596	9.81	VWF ITGB3 F3 F2 ADAMTS13
6	thrombopoietin-mediated signaling pathway	GO:0038163	9.67	THPO MPL
7	hemostasis	GO:0007599	9.35	VWF F3 F2 ADAMTS13
8	platelet activation	GO:0030168	9.32	VWF PF4 ITGB3 F2 ADAMTS13

Molecular functions related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	coreceptor activity	GO:0015026	9.1	ITGB3 CD8A CD4

Sources

Sources for Primary Thrombocytopenia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PRM225 MIFTS: 39	Primary Thrombocytopenia Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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