APSM
MCID: EPS006
MIFTS: 39

Epstein Syndrome (APSM) malady

Categories: Genetic diseases, Ear diseases, Blood diseases

Aliases & Classifications for Epstein Syndrome

Aliases & Descriptions for Epstein Syndrome:

Name: Epstein Syndrome 54 24 66 66 29 13 69
Macrothrombocytopathy, Nephritis, and Deafness 24
Macrothrombocytopathy, Nephritis and Deafness 66
Alport Syndrome, with Macrothrombocytopenia 66
Alport Syndrome with Macrothrombocytopenia 24
Macrothrombocytopathy-Nephritis-Deafness 66
Sebastian Syndrome 69
Epsteins Syndrome 52
Epstns 66
Apsm 66

Characteristics:

HPO:

32
epstein syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 153650

Summaries for Epstein Syndrome

OMIM : 54 Epstein syndrome is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and... (153650) more...

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 hypertension, cataract and proteinuria. An important gene associated with Epstein Syndrome is MYH9 (Myosin Heavy Chain 9). The drugs Efavirenz and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney.

UniProtKB/Swiss-Prot : 66 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 11.2
3 sebastian syndrome 11.2
4 myh9 related thrombocytopenia 10.9
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 by clinical synopsis from OMIM:

153650

Clinical features from OMIM:

153650

Human phenotypes related to Epstein Syndrome:

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

Drugs & Therapeutics for Epstein Syndrome

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

(show top 50) (show all 236)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
2 Anti-Infective Agents Phase 3,Phase 1,Phase 2
3 Antiviral Agents Phase 3,Phase 1,Phase 2
4 Cytochrome P-450 CYP3A Inducers Phase 3
5 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1
6 Anti-HIV Agents Phase 3,Phase 2
7 Anti-Retroviral Agents Phase 3,Phase 2
8 Reverse Transcriptase Inhibitors Phase 3,Phase 2
9 HIV Integrase Inhibitors Phase 3
10 Cytochrome P-450 CYP2C9 Inhibitors Phase 3
11 Cytochrome P-450 Enzyme Inhibitors Phase 3
12 Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
13 Integrase Inhibitors Phase 3
14 Raltegravir Potassium Phase 3
15
Doxorubicin Approved, Investigational Phase 2,Phase 1 23214-92-8 31703
16
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
17
Vincristine Approved, Investigational Phase 2,Phase 1 2068-78-2, 57-22-7 5978
18
Etoposide Approved Phase 1, Phase 2, Early Phase 1 33419-42-0 36462
19
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253
20
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
21
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
22
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
23
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
24
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
25
Ganciclovir Approved, Investigational Phase 1, Phase 2 82410-32-0 3454
26
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
27
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
28
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
29
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
30
Mechlorethamine Approved Phase 1, Phase 2 51-75-2 4033
31
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
32
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
33
Carmustine Approved Phase 1, Phase 2 154-93-8 2578
34
Valganciclovir Approved, Investigational Phase 1, Phase 2 175865-60-8 64147
35
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
36
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
37
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
38
Gemcitabine Approved Phase 2,Phase 1 95058-81-4 60750
39
Zidovudine Approved Phase 2 30516-87-1 35370
40
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
41
Aminolevulinic acid Approved Phase 2 106-60-5 137
42
Vidarabine Approved Phase 1, Phase 2 24356-66-9 32326 21704
43
Ifosfamide Approved Phase 1, Phase 2 3778-73-2 3690
44
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
45
Ondansetron Approved Phase 2 99614-02-5 4595
46
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 5310940 9887054 6857599, 9887054 43805
47
alemtuzumab Approved, Investigational Phase 2 216503-57-0
48
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
49
Lenograstim Approved Phase 2 135968-09-1
50
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 156)
id Name Status NCT ID Phase
1 Internet-Based Program With or Without Telephone-Based Problem-Solving Training in Helping Long-Term Survivors of Hematopoietic Stem Cell Transplant Cope With Late Complications Completed NCT00799461 Phase 3
2 Advanced Neuroimaging Evaluation of the Central Nervous System Biological Changes Associated With Efavirenz Therapy Switch to an Raltegravir-based Regimen Active, not recruiting NCT01978743 Phase 3
3 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
4 Brentuximab Vedotin + Rituximab as Frontline Therapy for Pts w/ CD30+ and/or EBV+ Lymphomas Unknown status NCT01805037 Phase 1, Phase 2
5 Rituximab in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Unknown status NCT01044745 Phase 2
6 Lenalidomide as Maintenance Therapy After Combination Chemotherapy With or Without Rituximab and Stem Cell Transplant in Treating Patients With Persistent or Recurrent Non-Hodgkin Lymphoma That is Resistant to Chemotherapy Unknown status NCT01035463 Phase 1, Phase 2
7 Short Term Intensified Chemo-immunotherapy in HIV-positive Patients With Burkitt Lymphoma Unknown status NCT01516593 Phase 2
8 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2
9 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2
10 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2
11 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2
12 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back Completed NCT00783965 Phase 2
13 Oxaliplatin, Fludarabine, Cytarabine and Rituximab in Richter's Syndrome, Refractory CLL and PLL Completed NCT00452374 Phase 1, Phase 2
14 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2
15 Peripheral Blood Lymphocyte Therapy to Prevent Lymphoproliferative Disorders Caused by Epstein-Barr Virus in Patients Who Have Undergone Transplantation Completed NCT00005606 Phase 2
16 Safety and Efficacy of AST-120 in Patients With Non-Constipating Irritable Bowel Syndrome Completed NCT00583128 Phase 2
17 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
18 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
19 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
20 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
21 Evaluation of Obstructive Sleep Apnea as a Risk Factor for Pulmonary Embolism Completed NCT00409045 Phase 1, Phase 2
22 Evaluating Safety and Effectiveness of Low-Dose Methotrexate at Reducing Inflammation in HIV-Infected Adults Taking Antiretroviral Medications Completed NCT01949116 Phase 2
23 Beclomethasone Dipropionate in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00489203 Phase 2
24 Haploidentical Donor Bone Marrow Transplant in Treating Patients With High-Risk Hematologic Cancer Completed NCT00049504 Phase 2
25 Donor Umbilical Cord Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Completed NCT01093586 Phase 2
26 Cyclophosphamide for Prevention of Graft-Versus-Host Disease After Allogeneic Peripheral Blood Stem Cell Transplantation in Patients With Hematological Malignancies Completed NCT01427881 Phase 2
27 Ondansetron in Preventing Nausea and Vomiting in Patients Undergoing Stem Cell Transplant Completed NCT00795769 Phase 2
28 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00118352 Phase 2
29 Vorinostat, Rituximab, Ifosfamide, Carboplatin, and Etoposide in Treating Patients With Relapsed or Refractory Lymphoma or Previously Untreated T-Cell Non-Hodgkin Lymphoma or Mantle Cell Lymphoma Completed NCT00601718 Phase 1, Phase 2
30 Safety and Tolerability of HSC835 in Patients With Hematological Malignancies Completed NCT01474681 Phase 1, Phase 2
31 Safety and Tolerability of HSC835 in Patients Undergoing Single Umbilical Cord Blood Transplant Completed NCT01930162 Phase 1, Phase 2
32 Vorinostat, Tacrolimus, and Methotrexate in Preventing GVHD After Stem Cell Transplant in Patients With Hematological Malignancies Completed NCT01789255 Phase 2
33 Bendamustine Hydrochloride, Etoposide, Dexamethasone, and Filgrastim For Peripheral Blood Stem Cell Mobilization in Treating Patients With Refractory or Recurrent Lymphoma or Multiple Myeloma Completed NCT01110135 Phase 2
34 Gemcitabine Hydrochloride, Carboplatin, Dexamethasone, and Rituximab in Treating Patients With Previously Treated Lymphoid Malignancies Completed NCT00072514 Phase 2
35 Veliparib, Bendamustine Hydrochloride, and Rituximab in Treating Patients With Relapsed or Refractory Lymphoma, Multiple Myeloma, or Solid Tumors Completed NCT01326702 Phase 1, Phase 2
36 Magnesium Supplementation in People With XMEN Syndrome Recruiting NCT02496676 Phase 1, Phase 2
37 Biological Therapy in Treating Patients at High-Risk or With Lymphoma, Lymphoproliferative Disease, or Malignancies Recruiting NCT00002663 Phase 1, Phase 2
38 ADjuVant Apatinib in Nasopharyngeal Carcinoma Patients With Residual Epstein-Barr Virus (EBV) DNA Following Radiotherapy Recruiting NCT02874651 Phase 2
39 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, Phase 2
40 Donor T Cells After Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies Recruiting NCT01839916 Phase 2
41 Reduced-Intensity Conditioning Before Donor Stem Cell Transplant in Treating Patients With High-Risk Hematologic Malignancies Recruiting NCT01760655 Phase 2
42 Allo HSCT Using RIC for Hematological Diseases Recruiting NCT02661035 Phase 2
43 UCB Transplant for Hematological Diseases Using a Non Myeloablative Prep Recruiting NCT02722668 Phase 2
44 Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Recruiting NCT01028716 Phase 2
45 Haploidentical BMT With Post-Transplant Cyclophosphamide and Bendamustine Recruiting NCT02996773 Phase 1, Phase 2
46 Umbilical Cord Blood Transplant, Cyclophosphamide, Fludarabine Phosphate, and Total-Body Irradiation in Treating Patients With Hematologic Disease Recruiting NCT00719888 Phase 2
47 Gene Therapy in Treating Patients With Human Immunodeficiency Virus-Related Lymphoma Receiving Stem Cell Transplant Recruiting NCT02797470 Phase 1, Phase 2
48 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2
49 Investigation of Otelixizumab in New-Onset, Autoimmune Type 1 Diabetes Mellitus Patients Active, not recruiting NCT02000817 Phase 2
50 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2

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:

39
Eye, Kidney

Publications for Epstein Syndrome

Articles related to Epstein Syndrome:

(show all 19)
id Title Authors Year
1
An unusual cause of renal failure; Epstein syndrome. ( 28197502 )
2016
2
Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure. ( 26387855 )
2015
3
Successful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies: A Case Report. ( 26518967 )
2015
4
A case of cochlear implantation in a patient with Epstein syndrome. ( 25293679 )
2015
5
Cochlear implantation in a patient with Epstein syndrome. ( 22854055 )
2013
6
ABO-incompatible renal transplantation in Epstein syndrome. ( 20590691 )
2010
7
Thrombocytopenia and proteinuria. Nonmuscle myosin heavy-chain-9-related disease ( MYH9 RD) or Epstein syndrome (ES). ( 18781340 )
2009
8
Epstein syndrome with rapid progression to end stage renal disease. ( 19861875 )
2009
9
Epstein syndrome presenting as renal failure in young patients. ( 19839854 )
2009
10
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). ( 18503011 )
2008
11
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 )
2003
12
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 )
2002
13
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. ( 11935325 )
2002
14
Familial hematuric syndromes--Alport syndrome, thin glomerular basement membrane disease and Fechtner/Epstein syndromes. ( 11688406 )
2001
15
Congenital macrothrombocytopenic thrombopathy and nephritis (Epstein syndrome--variant). ( 17322713 )
2000
16
Littoral cell angioma in a patient with Epstein syndrome. ( 9286309 )
1997
17
Epstein syndrome: oral lesions in a patient with nephropathy, deafness and thrombocytopenia. ( 1753355 )
1991
18
Renal transplantation in Epstein syndrome. ( 3541581 )
1987
19
Successful renal transplantation for Epstein syndrome. ( 3518415 )
1986

Variations for Epstein Syndrome

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

66
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:

6
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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