MCID: BLT001
MIFTS: 39

Bilateral Retinoblastoma

Categories: Cancer diseases, Eye diseases

Aliases & Classifications for Bilateral Retinoblastoma

MalaCards integrated aliases for Bilateral Retinoblastoma:

Name: Bilateral Retinoblastoma 12 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4650
NCIt 49 C8713
UMLS 71 C0854914

Summaries for Bilateral Retinoblastoma

Disease Ontology : 12 A retinoblastoma that develops in both eyes.

MalaCards based summary : Bilateral Retinoblastoma is related to retinoblastoma and leiomyosarcoma. An important gene associated with Bilateral Retinoblastoma is RBL1 (RB Transcriptional Corepressor Like 1), and among its related pathways/superpathways are Mitotic G1-G1/S phases and Cyclins and Cell Cycle Regulation. The drugs Topotecan and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skeletal muscle, and related phenotypes are cellular and growth/size/body region

Related Diseases for Bilateral Retinoblastoma

Diseases related to Bilateral Retinoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 retinoblastoma 30.5 RBL2 RBL1 RB1 MYCN LPAR6 ESD
2 leiomyosarcoma 30.1 RB1 MYOG MB DES
3 spindle cell sarcoma 30.0 MYOG DES
4 embryonal sarcoma 29.9 MYOG DES
5 malignant mesenchymoma 29.9 MYOG MB DES
6 mesenchymoma 29.9 MYOG MB DES
7 leukocoria 29.5 VSX2 RB1 LPAR6
8 rhabdomyosarcoma 29.5 RB1 MYOG MYCN MB DES
9 rhabdomyosarcoma 2 29.4 MYOG MYCN MB DES
10 unilateral retinoblastoma 29.2 VSX2 RBL2 RBL1 RB1 MYCN LPAR6
11 familial retinoblastoma 29.2 RBL1 RB1 MYCN LPAR6 ESD E2F8
12 eye disease 27.6 VSX2 RBL1 RB1 E2F8 E2F7 E2F6
13 osteogenic sarcoma 10.4
14 cervical neuroblastoma 10.3 MYOG MYCN
15 orbit rhabdomyosarcoma 10.3 MYOG MB
16 spindle cell lipoma 10.3 RB1 DES
17 skeletal muscle neoplasm 10.3 MYOG MB
18 orbit embryonal rhabdomyosarcoma 10.3 MYOG MB
19 myofibroma 10.3 MB DES
20 prostate embryonal rhabdomyosarcoma 10.3 MYOG MB
21 giant cell myocarditis 10.3 MB DES
22 inflammatory leiomyosarcoma 10.2 MYOG DES
23 extraocular retinoblastoma 10.2 VSX2 RBL2
24 gallbladder sarcoma 10.2 MYOG DES
25 extracranial neuroblastoma 10.2 MYOG MYCN
26 cervical polyp 10.2 MYOG DES
27 ectomesenchymoma 10.2 MYOG DES
28 breast rhabdomyosarcoma 10.2 MYOG MB
29 bone sarcoma 10.2 MB DES
30 horner's syndrome 10.2 MYOG DES
31 epithelioid leiomyosarcoma 10.1 MB DES
32 gas gangrene 10.1 MYOG MB
33 congenital fibrosarcoma 10.1 MYOG DES
34 intraocular retinoblastoma 10.1
35 undifferentiated pleomorphic sarcoma 10.1
36 dedifferentiated liposarcoma 10.1 RB1 MYOG DES
37 hypotrichosis 8 10.1 RB1 LPAR6
38 skeletal muscle cancer 10.1 MYOG MYCN MB
39 papilloma 10.1 RBL2 RBL1 RB1
40 retinal detachment 10.1
41 yemenite deaf-blind hypopigmentation syndrome 10.1
42 pineoblastoma 10.1
43 malignant fibroxanthoma 10.1
44 histiocytoma 10.1
45 fibrous histiocytoma 10.1
46 adenosarcoma 10.1 MB DES
47 pseudosarcomatous fibromatosis 10.0 MYOG DES
48 malignant triton tumor 10.0 MYOG MB DES
49 medullomyoblastoma 10.0 MYOG MB DES
50 botryoid rhabdomyosarcoma 10.0 MYOG MB DES

Graphical network of the top 20 diseases related to Bilateral Retinoblastoma:



Diseases related to Bilateral Retinoblastoma

Symptoms & Phenotypes for Bilateral Retinoblastoma

MGI Mouse Phenotypes related to Bilateral Retinoblastoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 DES E2F6 E2F7 E2F8 MB MYCN
2 growth/size/body region MP:0005378 10.07 E2F6 E2F7 E2F8 KLHL26 MB MYCN
3 cardiovascular system MP:0005385 10.06 DES E2F7 E2F8 MB MYCN RB1
4 mortality/aging MP:0010768 10.06 DES E2F6 E2F7 E2F8 MB MYCN
5 embryo MP:0005380 10.01 E2F7 E2F8 MB MYCN MYOG RB1
6 muscle MP:0005369 9.8 DES MB MYCN MYOG RB1 RBL1
7 no phenotypic analysis MP:0003012 9.63 MYCN MYOG RB1 RBL1 RBL2 VSX2
8 normal MP:0002873 9.56 E2F6 E2F7 E2F8 MYCN MYOG RB1
9 respiratory system MP:0005388 9.23 E2F7 E2F8 MB MYCN MYOG RB1

Drugs & Therapeutics for Bilateral Retinoblastoma

Drugs for Bilateral Retinoblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
2
Etoposide Approved Phase 3 33419-42-0 36462
3
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
4
Lenograstim Approved, Investigational Phase 3 135968-09-1
5
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
6
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Mesna Approved, Investigational Phase 3 3375-50-6 598
9 topoisomerase I inhibitors Phase 3
10 Topoisomerase Inhibitors Phase 3
11 Etoposide phosphate Phase 3
12 Antimitotic Agents Phase 3
13 Alkylating Agents Phase 3
14 Anti-Bacterial Agents Phase 3
15 Antibiotics, Antitubercular Phase 3
16
Liposomal doxorubicin Phase 3 31703
17 Immunosuppressive Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Immunologic Factors Phase 3
20
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
21 Adjuvants, Immunologic Phase 2
22 Anesthetics Phase 2
23
Ethanol Approved 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Protocol for the Study and Treatment of Patients With Intraocular Retinoblastoma Active, not recruiting NCT00186888 Phase 3 Vincristine, Carboplatin;Vincristine and Topotecan;Vincristine + Carboplatin + Etoposide;vincristine, cyclophosphamide, and doxorubicin;Vincristine, Carboplatin and Etoposide
2 Chemotherapy Plus Local Surgical Treatment in Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2 Carboplatin;VP-16
3 Protocol for the Study and Treatment of Participants With Intraocular Retinoblastoma Recruiting NCT01783535 Phase 2 vincristine;topotecan;filgrastim;PEG-filgrastim;carboplatin;etoposide;cyclophosphamide;MESNA;doxorubicin
4 A Phase II Trial of Proton Beam Radiation Therapy for Intra- and Periocular Retinoblastoma Terminated NCT00432445 Phase 2
5 Toxicity and Activity of Periocular Topotecan in Children With Retinoblastoma Completed NCT00460876 Phase 1 Topotecan
6 Randomized Control Trial Comparing Carboplatin 560mg/m2 With 750mg/m2 for Ocular Salvage in Groups C and D Intraocular Retinoblastoma Unknown status NCT00889018 carboplatin;carboplatin
7 Molecular Analysis of Retinoblastoma Completed NCT00718783
8 Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma Completed NCT00690469
9 A Pilot Study of Intravenous Topotecan and Vincristine in Combination With Subconjunctival Carboplatin for Patients With a History of Bilateral Retinoblastoma and Refractory/Recurrent Intraocular Disease (IND# 104,942) Withdrawn NCT00980551 subtenon Carboplatin;Topotecan Hydrochloride;Vincristine;Filgrastim

Search NIH Clinical Center for Bilateral Retinoblastoma

Genetic Tests for Bilateral Retinoblastoma

Anatomical Context for Bilateral Retinoblastoma

MalaCards organs/tissues related to Bilateral Retinoblastoma:

40
Eye, Bone, Skeletal Muscle, Pineal, Brain, Thyroid, Testes

Publications for Bilateral Retinoblastoma

Articles related to Bilateral Retinoblastoma:

(show top 50) (show all 532)
# Title Authors PMID Year
1
Pars plana vitrectomy under melphalan irrigation for recurrent retinal detachment in eyes treated for retinoblastoma: a case report. 61
31992247 2020
2
Number, frequency and time interval of examinations under anesthesia in bilateral retinoblastoma. 61
31900643 2020
3
Management of advanced uni- or bilateral retinoblastoma with macroscopic optic nerve invasion. 61
31571399 2020
4
Unilateral retinocytoma associated with a variant in the RB1 gene. 61
31997559 2020
5
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report. 61
31806026 2019
6
High-risk retinoblastoma based on age at primary enucleation: a study of 616 eyes. 61
31767966 2019
7
Alteration of facial growth after radiotherapy: orthodontic, surgical and prosthetic rehabilitation. 61
30980947 2019
8
Synchronous Urothelial Bladder and Renal Malignancies. Case Report and Review of Urologic Cancers in Patients With Familial Rb Mutations. 61
31158355 2019
9
A Potential Role For Apparent Diffusion Coefficient in the Diagnosis of Trilateral Retinoblastoma. 61
31259824 2019
10
Microperimetry and swept-source optical coherence tomography in the assessment of the preferred retinal locus in a child with macular retinoblastoma in the remaining eye. 61
30502422 2019
11
Choroidal Ischemia Sparing the Watershed Zone following Intra-Arterial Chemotherapy for Retinoblastoma. 61
31049327 2019
12
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. 61
30449636 2019
13
[Dermatological follow-up in retinoblastoma patients : A case report]. 61
30569363 2019
14
Outcomes of pediatric retinoblastoma treated with ICEV regimen: A single-center study. 61
30983466 2019
15
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour. 61
30745306 2019
16
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. 61
30822236 2019
17
The Incidence of Binocular Visual Impairment and Blindness in Children with Bilateral Retinoblastoma. 61
30675470 2019
18
Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma. 61
30640396 2019
19
Prevalence of refractive errors in children with retinoblastoma. 61
30880903 2019
20
Chronic myeloid leukemia following treatment for bilateral retinoblastoma. 61
29727044 2018
21
Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male. 61
30320103 2018
22
Atypical Retinal Pigment Epithelial Hyperplasia and Glial Proliferation Masquerading as Progressive Recurrent Retinoblastoma: A Case Report Review and Clinicopathologic Correlation. 61
30320092 2018
23
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy. 61
29940303 2018
24
The National Registry of Retinoblastoma in Japan (1983-2014). 61
29846838 2018
25
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? 61
29336617 2018
26
A Tale of Absent Crystalline Lens in an Eye with Retinoblastoma. 61
30643770 2018
27
Intravitreal chemotherapy and laser for newly visible subretinal seeds in retinoblastoma. 61
29513055 2018
28
Vision-Targeted Health-Related Quality of Life in Adult Survivors of Retinoblastoma. 61
29710339 2018
29
Generation of a human induced pluripotent stem cell line (VRFi001-A) from orbital adipose tissue of a bilateral retinoblastoma patient with heterozygous RB1 gene deletion. 61
29579639 2018
30
Retinoblastoma Cell Culturing and Evaluation of Their Drug Resistance. 61
29796815 2018
31
Is a diagnostic lumbar puncture indicated in intraocular retinoblastoma? 61
29676357 2018
32
Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion. 61
29684226 2018
33
Parental occupational exposures and the risk of childhood sporadic retinoblastoma: a report from the Children's Oncology Group. 61
29074554 2018
34
Three presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States. 61
28949779 2018
35
Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry. 61
29217028 2017
36
Quadruple Neoplasms following Radiation Therapy for Congenital Bilateral Retinoblastoma. 61
29344496 2017
37
Adenocarcinoma of the Retinal Pigment Epithelium Arising in Conjunction with Late Recurrence and Systemic Metastasis of Retinoblastoma. 61
29344484 2017
38
Prediagnostic Intervals in Retinoblastoma: Experience at an Oncology Center in Brazil. 61
28831440 2017
39
Eye Salvage with Combination of Intravitreal and Intracameral Melphalan Injection for Recurrent Retinoblastoma with Anterior Chamber Involvement: Report of a Case. 61
28868284 2017
40
Outcome of focal treatment to residual retinoblastoma after chemotherapy (Experience with Focal Treatment of Retinoblastoma). 61
28770899 2017
41
Related visual impairment to mother-infant interaction and development in infants with bilateral retinoblastoma. 61
28478852 2017
42
Genetic screening in Iranian patients with retinoblastoma. 61
27983729 2017
43
Outcomes and complications after phacoemulsification in retinoblastoma patients with cataract after radiation treatment. 61
28017486 2017
44
Proliferative Vitreoretinopathy in Treated Retinoblastoma. 61
28435935 2017
45
Genetics and Molecular Diagnostics in Retinoblastoma--An Update. 61
28399338 2017
46
Mosaicism and prenatal diagnosis options: insights from retinoblastoma. 61
28000698 2017
47
Ocular Salvage and Vision Preservation Using a Topotecan-Based Regimen for Advanced Intraocular Retinoblastoma. 61
28034080 2017
48
Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia. 61
29230267 2017
49
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. 61
29261756 2017
50
Acute Hemorrhagic Retinopathy following Intravitreal Melphalan Injection for Retinoblastoma: A Report of Two Cases and Technical Modifications to Enhance the Prevention of Retinal Toxicity. 61
28275601 2017

Variations for Bilateral Retinoblastoma

Expression for Bilateral Retinoblastoma

Search GEO for disease gene expression data for Bilateral Retinoblastoma.

Pathways for Bilateral Retinoblastoma

Pathways related to Bilateral Retinoblastoma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 RBL2 RBL1 RB1 E2F6
2
Show member pathways
12.02 RBL2 RBL1 RB1
3 11.98 RBL2 RBL1 RB1 E2F6
4 11.96 RBL2 RBL1 RB1
5 11.84 RBL2 RBL1 RB1
6 11.73 RBL2 RBL1 RB1
7
Show member pathways
11.55 RBL2 RBL1 E2F7
8
Show member pathways
11.19 RBL2 RBL1 RB1 E2F6
9
Show member pathways
11.15 RBL2 RBL1 RB1
10 10.88 RBL2 RBL1 RB1 E2F7 E2F6
11 10.54 RBL2 RBL1 RB1

GO Terms for Bilateral Retinoblastoma

Cellular components related to Bilateral Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.63 VSX2 MYOG MYCN E2F8 E2F7 E2F6
2 RNA polymerase II transcription factor complex GO:0090575 9.43 E2F8 E2F7 E2F6
3 chromatin GO:0000785 9.26 RBL2 RBL1 RB1 MYCN
4 transcription factor complex GO:0005667 9.17 RBL2 RBL1 RB1 MYOG E2F8 E2F7

Biological processes related to Bilateral Retinoblastoma according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.07 VSX2 RB1 MYOG MYCN E2F8 E2F7
2 regulation of transcription by RNA polymerase II GO:0006357 9.99 VSX2 RBL2 RBL1 RB1 MYCN
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.98 RBL1 RB1 E2F8 E2F7 E2F6
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 RBL1 RB1 MYOG MYCN E2F8 E2F7
5 negative regulation of gene expression GO:0010629 9.85 RBL2 RBL1 RB1 MYCN
6 cell cycle GO:0007049 9.7 RBL2 RBL1 RB1 MYOG E2F8 E2F7
7 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.67 RBL2 E2F8 E2F7
8 regulation of mitotic cell cycle GO:0007346 9.61 RBL2 RBL1 RB1
9 sprouting angiogenesis GO:0002040 9.6 E2F8 E2F7
10 myoblast differentiation GO:0045445 9.58 RB1 MYOG
11 hepatocyte differentiation GO:0070365 9.57 E2F8 E2F7
12 trophoblast giant cell differentiation GO:0060707 9.56 E2F8 E2F7
13 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.56 RBL2 RBL1 RB1 E2F7
14 regulation of cell division GO:0051302 9.54 RBL2 RBL1
15 negative regulation of cytokinesis GO:0032466 9.51 E2F8 E2F7
16 chorionic trophoblast cell differentiation GO:0060718 9.48 E2F8 E2F7
17 enucleate erythrocyte differentiation GO:0043353 9.46 RB1 MB
18 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.4 RB1 E2F7
19 positive regulation of DNA endoreduplication GO:0032877 9.32 E2F8 E2F7
20 regulation of lipid kinase activity GO:0043550 9.13 RBL2 RBL1 RB1
21 regulation of cell cycle GO:0051726 9.1 RBL2 RBL1 RB1 E2F8 E2F7 E2F6

Molecular functions related to Bilateral Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 VSX2 RBL2 RB1 MYOG MYCN E2F8
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.88 VSX2 MYOG MYCN E2F8 E2F7 E2F6
3 sequence-specific DNA binding GO:0043565 9.83 VSX2 MYOG E2F8 E2F7 E2F6
4 DNA-binding transcription factor activity GO:0003700 9.8 RB1 MYOG MYCN E2F8 E2F7 E2F6
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.76 MYOG MYCN E2F8 E2F7
6 protein dimerization activity GO:0046983 9.65 MYOG MYCN E2F6
7 transcription factor binding GO:0008134 9.55 RBL1 RB1 E2F8 E2F7 E2F6
8 RNA polymerase II activating transcription factor binding GO:0001102 9.43 RBL2 RBL1 RB1
9 RNA polymerase II regulatory region DNA binding GO:0001012 9.13 RBL2 RBL1 RB1
10 proximal promoter sequence-specific DNA binding GO:0000987 8.92 RB1 MYOG E2F8 E2F7

Sources for Bilateral Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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