Epstein Syndrome

Categories: Genetic diseases, Ear diseases, Blood diseases

Aliases & Classifications for Epstein Syndrome

MalaCards integrated aliases for Epstein Syndrome:

Name: Epstein Syndrome 54 24 71 71 29 13 69
Macrothrombocytopathy, Nephritis, and Deafness 24
Macrothrombocytopathy, Nephritis and Deafness 71
Alport Syndrome, with Macrothrombocytopenia 71
Alport Syndrome with Macrothrombocytopenia 24
Macrothrombocytopathy-Nephritis-Deafness 71
Sebastian Syndrome 69
Epsteins Syndrome 52
Epstns 71
Apsm 71



autosomal dominant

bleeding episodes occur early in life and may disappear with age


epstein syndrome:
Inheritance autosomal dominant inheritance


Summaries for Epstein Syndrome

OMIM : 54
Epstein syndrome is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness (Epstein et al., 1972). There are several other disorders caused by mutation in the MYH9 gene that share overlapping features with Epstein syndrome. May-Hegglin anomaly (155100) is characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. These leukocyte inclusions are not found on classic staining of peripheral blood in Epstein syndrome. Fechtner syndrome (153640) has the platelet defect accompanied by nephritis, hearing loss, and eye abnormalities, mostly cataracts. The findings of nephritis, hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent of Alport syndrome (see 301050). Sebastian syndrome (605249) is similar to May-Hegglin anomaly, but has a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders, May-Hegglin, Sebastian, Epstein, and Fechtner syndromes, are not distinct entities, but rather represent a single disorder with a continuous clinical spectrum, for which they proposed the term 'MYH9-related disease.' However, other disorders, e.g., macrothrombocytopenia and progressive sensorineural deafness (600208) and a form of nonsyndromic deafness (DFNA17; 603622), are also caused by mutation in the MYH9 gene. (153650)

MalaCards based summary : Epstein Syndrome, also known as macrothrombocytopathy, nephritis, and deafness, is related to may-hegglin anomaly and fechtner syndrome, and has symptoms including thrombocytopenia, proteinuria and cataract. An important gene associated with Epstein Syndrome is MYH9 (Myosin Heavy Chain 9). The drugs Ganciclovir and Valganciclovir have been mentioned in the context of this disorder. Affiliated tissues include t cells, eye and bone.

UniProtKB/Swiss-Prot : 71 Alport syndrome, with macrothrombocytopenia: An autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. Epstein syndrome: An autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis.

Related Diseases for Epstein Syndrome

Diseases related to Epstein Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 may-hegglin anomaly 11.2
2 fechtner syndrome 11.1
3 sebastian syndrome 11.1
4 myh9 related thrombocytopenia 10.7
5 thrombocytopenia 9.6
6 alport syndrome 9.4
7 sensorineural hearing loss 9.4

Graphical network of the top 20 diseases related to Epstein Syndrome:

Diseases related to Epstein Syndrome

Symptoms & Phenotypes for Epstein Syndrome

Symptoms via clinical synopsis from OMIM:


giant platelets
mild bleeding episodes (epistaxis, gi bleeding, menorrhagia)
no leukocyte inclusion bodies on giemsa staining
myh9-positive inclusions on immunohistochemical staining

Genitourinary- Kidneys:
end stage renal disease (33% of patients)
hypertension, moderate

Head And Neck- Eyes:
cataract (alport syndrome with macrothrombocytopenia)
no cataract (epstein syndrome)

Laboratory- Abnormalities:
microscopic hematuria
severe thrombocytopenia (30-60 x 10(9)/l)
normal-prolonged bleeding time
reduced platelet aggregation response to adp, collagen, epinephrine

Head And Neck- Ears:
deafness, bilateral sensorineural, high frequency (100% of patients)

Cardiovascular- Vascular:
hypertension, moderate, secondary to renal disease

Clinical features from OMIM:


Human phenotypes related to Epstein Syndrome:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 proteinuria 32 HP:0000093
3 cataract 32 HP:0000518
4 nephritis 32 HP:0000123
5 hypertension 32 HP:0000822
6 epistaxis 32 HP:0000421
7 microscopic hematuria 32 HP:0002907
8 giant platelets 32 HP:0001902
9 gastrointestinal hemorrhage 32 HP:0002239
10 stage 5 chronic kidney disease 32 HP:0003774
11 bilateral sensorineural hearing impairment 32 very rare (1%) HP:0008619
12 high-frequency sensorineural hearing impairment 32 very rare (1%) HP:0001757

Drugs & Therapeutics for Epstein Syndrome

Drugs for Epstein Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 171)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Ganciclovir Approved, Investigational Phase 1, Phase 2 82410-32-0 3454
Valganciclovir Approved, Investigational Phase 1, Phase 2 175865-60-8 64147
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
Prednisone Approved, Vet_approved Phase 2,Phase 1 53-03-2 5865
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 5310940 9887054 43805 6857599
Vidarabine Approved Phase 1, Phase 2 24356-66-9 32326 21704
Aminolevulinic acid Approved Phase 2 106-60-5 137
Busulfan Approved, Investigational Phase 2 55-98-1 2478
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
Zidovudine Approved Phase 2 30516-87-1 35370
Etoposide Approved Phase 2 33419-42-0 36462
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
Melphalan Approved Phase 2 148-82-3 4053 460612
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
Magnesium Sulfate Approved, Vet_approved Phase 1, Phase 2 7487-88-9 24083
alemtuzumab Approved, Investigational Phase 2 216503-57-0
Mechlorethamine Approved Phase 2 51-75-2 4033
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
Nicotinamide Approved, Nutraceutical Phase 2 98-92-0 936
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
33 Antibodies Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Ganciclovir triphosphate Phase 1, Phase 2
37 Immunoglobulins Phase 1, Phase 2
38 Antibodies, Monoclonal Phase 1, Phase 2
39 Antirheumatic Agents Phase 1, Phase 2
40 Immunoconjugates Phase 1, Phase 2
41 Dermatologic Agents Phase 2,Phase 1
42 Anti-Inflammatory Agents Phase 2,Phase 1
43 Antineoplastic Agents, Hormonal Phase 2,Phase 1
44 glucocorticoids Phase 2,Phase 1
45 Hormone Antagonists Phase 2,Phase 1
46 Hormones Phase 2,Phase 1
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
48 Autoantibodies Phase 2,Phase 1
49 Keratolytic Agents Phase 2
50 Micronutrients Phase 2

Interventional clinical trials:

(show top 50) (show all 74)

id Name Status NCT ID Phase Drugs
1 Valganciclovir (Valcyte) for Chronic Fatigue Syndrome Patients Who Have Elevated Antibody Titers Against Human Herpes Virus 6 (HHV-6)and Epstein-Barr Virus (EBV) Unknown status NCT00478465 Phase 1, Phase 2 valganciclovir
2 Brentuximab Vedotin + Rituximab as Frontline Therapy for Pts w/ CD30+ and/or EBV+ Lymphomas Unknown status NCT01805037 Phase 1, Phase 2 brentuximab vedotin
3 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2 eltrombopag
4 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2 GDC-0449
5 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2 tazarotene
6 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2 celecoxib
7 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back Completed NCT00783965 Phase 2 tazarotene
8 Oxaliplatin, Fludarabine, Cytarabine and Rituximab in Richter's Syndrome, Refractory CLL and PLL Completed NCT00452374 Phase 1, Phase 2 Cytarabine;Fludarabine;Oxaliplatin;Rituximab
9 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
10 Peripheral Blood Lymphocyte Therapy to Prevent Lymphoproliferative Disorders Caused by Epstein-Barr Virus in Patients Who Have Undergone Transplantation Completed NCT00005606 Phase 2
11 Safety and Efficacy of AST-120 in Patients With Non-Constipating Irritable Bowel Syndrome Completed NCT00583128 Phase 2 AST-120;Celphere® CP-305
12 High-Dose Busulfan and High-Dose Cyclophosphamide Followed By Donor Bone Marrow Transplant in Treating Patients With Leukemia, Myelodysplastic Syndrome, Multiple Myeloma, or Recurrent Hodgkin or Non-Hodgkin Lymphoma Completed NCT01177371 Phase 2 busulfan;cyclophosphamide;methylprednisolone;methotrexate;cyclosporine
13 A Multicenter, Double Blind, Comparative Study of Zidovudine Alone Versus Zidovudine and Acyclovir as Treatment for HIV-Infected Patients With CD4+ Counts Less Than 200 Cells/mm3 Completed NCT00000712 Phase 2 Zidovudine;Acyclovir
14 Sirolimus, Tacrolimus, and Antithymocyte Globulin in Preventing Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant For Hematological Cancer Completed NCT00589563 Phase 2 cyclophosphamide;etoposide;fludarabine phosphate;melphalan;methotrexate;sirolimus;tacrolimus
15 Fludarabine and Busulfan Followed by Donor Peripheral Stem Cell Transplant and Antithymocyte Globulin, Tacrolimus, and Methotrexate in Treating Patients With Myeloid Cancer Completed NCT00346359 Phase 2 busulfan;fludarabine phosphate;methotrexate;tacrolimus
16 Evaluation of Obstructive Sleep Apnea as a Risk Factor for Pulmonary Embolism Completed NCT00409045 Phase 1, Phase 2
17 Evaluating Safety and Effectiveness of Low-Dose Methotrexate at Reducing Inflammation in HIV-Infected Adults Taking Antiretroviral Medications Completed NCT01949116 Phase 2 Methotrexate (MTX);Placebo
18 Beclomethasone Dipropionate in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00489203 Phase 2 beclomethasone dipropionate;placebo;tacrolimus;methotrexate
19 Haploidentical Donor Bone Marrow Transplant in Treating Patients With High-Risk Hematologic Cancer Completed NCT00049504 Phase 2 cyclophosphamide;fludarabine phosphate;tacrolimus;mycophenolate mofetil
20 Donor Umbilical Cord Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Completed NCT01093586 Phase 2 busulfan;cyclophosphamide;anti-thymocyte globulin;methylprednisolone;cyclosporine;mycophenolate mofetil
21 Magnesium Supplementation in People With XMEN Syndrome Recruiting NCT02496676 Phase 1, Phase 2 Magnesium L-threonate;Placebo;Magnesium Sulfate (MgSO)
22 Biological Therapy in Treating Patients at High-Risk or With Lymphoma, Lymphoproliferative Disease, or Malignancies Recruiting NCT00002663 Phase 1, Phase 2
23 ADjuVant Apatinib in Nasopharyngeal Carcinoma Patients With Residual Epstein-Barr Virus (EBV) DNA Following Radiotherapy Recruiting NCT02874651 Phase 2 Apatinib;Placebo
24 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2 Eltrombopag
25 Investigation of Otelixizumab in New-Onset, Autoimmune Type 1 Diabetes Mellitus Patients Active, not recruiting NCT02000817 Phase 2
26 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
27 Evaluating the Safety and Effectiveness of Bone Marrow Transplants in Children With Sickle Cell Disease (BMT CTN 0601) Active, not recruiting NCT00745420 Phase 2
28 Therapeutic Effects of Epstein-Barr Virus Immune T-Lymphocytes Derived From a Normal HLA-Compatible Or Partially-Matched Third-Party Donor in the Treatment of EBV Lymphoproliferative Disorders and EBV-Associated Malignancies Active, not recruiting NCT01498484 Phase 2
29 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
30 Tacrolimus and Mycophenolate Mofetil in Preventing Graft-Versus-Host Disease in Patients Who Have Undergone Total-Body Irradiation With or Without Fludarabine Phosphate Followed by Donor Peripheral Blood Stem Cell Transplant for Hematologic Cancer Active, not recruiting NCT00089011 Phase 2 fludarabine phosphate;mycophenolate mofetil;tacrolimus
31 EBV-specific Cytotoxic T-lymphocytes (CTLs) for Refractory EBV Infection Not yet recruiting NCT03266653 Phase 2 cytotoxic t-lymphocytes
32 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID) Not yet recruiting NCT02737384 Phase 2
33 Sirolimus, Tacrolimus, Thymoglobulin and Rituximab as Graft-versus-Host-Disease Prophylaxis in Patients Undergoing Haploidentical and HLA Partially Matched Donor Hematopoietic Cell Transplantation Terminated NCT01116232 Phase 2 sirolimus;tacrolimus
34 IVIG Treatment for Refractory Immune-Related Adult Epilepsy Terminated NCT01545518 Phase 2 IVIG
35 Visilizumab for the Prevention of Graft-versus-Host Disease After Allogeneic Hematopoietic Cell Transplantation Terminated NCT00720629 Phase 2 Visilizumab;Tacrolimus;Methotrexate;Antithymocyte globulin (ATG);Tacrolimus;Methotrexate
36 Infections and Autoimmunity: Autobodies Screening in Multiple Sclerosis Unknown status NCT00230204 Phase 1
37 Ganciclovir Plus Arginine Butyrate in Treating Patients With Cancer or Lymphoproliferative Disorders Associated With the Epstein Barr Virus Completed NCT00006340 Phase 1 arginine butyrate;ganciclovir
38 Development of a Nanosecond Pulsed Electric Field System to Treat Skin Cancer Completed NCT01463709 Phase 1
39 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1 sunitinib malate
40 Imatinib Mesylate in Treating Patients With Advanced Cancer and Liver Dysfunction Completed NCT00025415 Phase 1 imatinib mesylate
41 Administration of Donor Multi TAA-Specific T Cells for AML or MDS (ADSPAM) Recruiting NCT02494167 Phase 1
42 Cytotoxic T Cells to Treat Relapsed EBV-positive Lymphoma Recruiting NCT01956084 Phase 1 LMP1/2 CTLs (Group A);LMP1/2 CTLs (Group B)
43 Phase I/II Trial of Early Infusion of Rapidly-generated Multivirus Specific T Cells (MVST) to Prevent Post Transplant Viral Infections Recruiting NCT02231853 Phase 1
44 Donor-Alloantigen-Reactive Regulatory T Cell (darTregs) in Liver Transplantation Recruiting NCT02188719 Phase 1 Everolimus;Tacrolimus;Mycophenolate mofetil;Prednisone;Acetaminophen;Diphenhydramine;Anti-Infective Prophylaxis
45 Most Closely HLA-Matched CTLs for Relapsed Epstein Barr Virus(EBV)-Associated Diseases Active, not recruiting NCT01447056 Phase 1
46 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
47 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
48 Vaccine Therapy in Preventing Cytomegalovirus Infection in Patients With Hematological Malignancies Undergoing Donor Stem Cell Transplant Active, not recruiting NCT01588015 Phase 1
49 Trial to Assess the Safety and Feasibility of Adoptive Cell Therapy With Autologous EBV-specific Cytotoxic T Lymphocytes (CTL) in Patients With a First Clinical Episode Highly Suggestive of Multiple Sclerosis Not yet recruiting NCT02912897 Phase 1
50 Safety, Pharmacodynamics and Pharmacokinetics of GSK2136525 Repeat Dose in Rheumatoid Arthritis Terminated NCT01077531 Phase 1 Otelixizumab;Matching placebo

Search NIH Clinical Center for Epstein Syndrome

Genetic Tests for Epstein Syndrome

Genetic tests related to Epstein Syndrome:

id Genetic test Affiliating Genes
1 Epstein Syndrome 29 24 MYH9

Anatomical Context for Epstein Syndrome

MalaCards organs/tissues related to Epstein Syndrome:

T Cells, Eye, Bone, Skin, Bone Marrow, Liver, Kidney

Publications for Epstein Syndrome

Articles related to Epstein Syndrome:

(show all 19)
id Title Authors Year
An unusual cause of renal failure; Epstein syndrome. ( 28197502 )
Successful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies: A Case Report. ( 26518967 )
Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure. ( 26387855 )
A case of cochlear implantation in a patient with Epstein syndrome. ( 25293679 )
Cochlear implantation in a patient with Epstein syndrome. ( 22854055 )
ABO-incompatible renal transplantation in Epstein syndrome. ( 20590691 )
Epstein syndrome with rapid progression to end stage renal disease. ( 19861875 )
Thrombocytopenia and proteinuria. Nonmuscle myosin heavy-chain-9-related disease ( MYH9 RD) or Epstein syndrome (ES). ( 18781340 )
Epstein syndrome presenting as renal failure in young patients. ( 19839854 )
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). ( 18503011 )
MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. ( 12792306 )
Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes. ( 11943476 )
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. ( 11935325 )
Familial hematuric syndromes--Alport syndrome, thin glomerular basement membrane disease and Fechtner/Epstein syndromes. ( 11688406 )
Congenital macrothrombocytopenic thrombopathy and nephritis (Epstein syndrome--variant). ( 17322713 )
Littoral cell angioma in a patient with Epstein syndrome. ( 9286309 )
Epstein syndrome: oral lesions in a patient with nephropathy, deafness and thrombocytopenia. ( 1753355 )
Renal transplantation in Epstein syndrome. ( 3541581 )
Successful renal transplantation for Epstein syndrome. ( 3518415 )

Variations for Epstein Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Epstein Syndrome:

id Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg702Cys VAR_010792 rs80338826
2 MYH9 p.Glu1841Lys VAR_010797 rs80338834
3 MYH9 p.Ser96Leu VAR_018309 rs121913657
4 MYH9 p.Arg702His VAR_018311 rs80338827
5 MYH9 p.Ser1114Pro VAR_018312 rs200901330
6 MYH9 p.Ile1816Val VAR_030385 rs762773112

ClinVar genetic disease variations for Epstein Syndrome:

id Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
2 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh37 Chromosome 22, 36702030: 36702030
3 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995

Expression for Epstein Syndrome

Search GEO for disease gene expression data for Epstein Syndrome.

Pathways for Epstein Syndrome

GO Terms for Epstein Syndrome

Sources for Epstein Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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