MCID: BLT001
MIFTS: 39

Bilateral Retinoblastoma

Categories: Cancer diseases, Neuronal 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 intraocular retinoblastoma and familial retinoblastoma. An important gene associated with Bilateral Retinoblastoma is RBL1 (RB Transcriptional Corepressor Like 1), and among its related pathways/superpathways are Cyclins and Cell Cycle Regulation and Viral carcinogenesis. The drugs Topotecan and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and pineal, and related phenotypes are cellular and cardiovascular system

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 130)
# Related Disease Score Top Affiliating Genes
1 intraocular retinoblastoma 30.2 MYCN MDM4
2 familial retinoblastoma 30.2 RBL1 RB1 ESD E2F8 E2F7
3 malignant fibrous histiocytoma 30.1 MYOG MB DES
4 leiomyosarcoma 30.1 RB1 MYOG MB DES
5 spindle cell sarcoma 29.9 MYOG DES
6 malignant mesenchymoma 29.9 MYOG MB DES
7 embryonal sarcoma 29.9 MYOG DES
8 retinoblastoma 29.8 RBL2 RBL1 RB1 MYCN MDM4 LPAR6
9 leukocoria 29.7 VSX2 RB1 LPAR6
10 rhabdomyosarcoma 29.4 RB1 MYOG MYCN MB DES
11 rhabdomyosarcoma 2 29.1 RB1 MYOG MYCN MB DES
12 unilateral retinoblastoma 28.5 VSX2 RBL2 RBL1 RB1 MYCN MDM4
13 eye disease 28.2 VSX2 RBL1 RB1 E2F8 E2F7
14 osteogenic sarcoma 10.4
15 cervical neuroblastoma 10.3 MYOG MYCN
16 breast rhabdomyosarcoma 10.3 MYOG MB
17 orbit rhabdomyosarcoma 10.3 MYOG MB
18 skeletal muscle neoplasm 10.3 MYOG MB
19 extracranial neuroblastoma 10.3 MYOG MYCN
20 orbit embryonal rhabdomyosarcoma 10.2 MYOG MB
21 giant cell myocarditis 10.2 MB DES
22 spindle cell lipoma 10.2 RB1 DES
23 inflammatory leiomyosarcoma 10.2 MYOG DES
24 gallbladder sarcoma 10.2 MYOG DES
25 cervical polyp 10.2 MYOG DES
26 ectomesenchymoma 10.2 MYOG DES
27 epithelioid leiomyosarcoma 10.1 MB DES
28 gas gangrene 10.1 MYOG MB
29 congenital fibrosarcoma 10.1 MYOG DES
30 hypotrichosis 8 10.1 RB1 LPAR6
31 adenosarcoma 10.1 MB DES
32 pseudosarcomatous fibromatosis 10.1 MYOG DES
33 papilloma 10.1 RBL2 RBL1 RB1
34 skeletal muscle cancer 10.1 MYOG MYCN MB
35 retinal detachment 10.1
36 yemenite deaf-blind hypopigmentation syndrome 10.1
37 pineoblastoma 10.1
38 fibrous histiocytoma 10.1
39 horner's syndrome 10.1 MYOG MYCN DES
40 pleuropulmonary blastoma 10.0 MYCN MB DES
41 malignant triton tumor 10.0 MYOG MB DES
42 medullomyoblastoma 10.0 MYOG MB DES
43 pleomorphic rhabdomyosarcoma 10.0 MYOG MB
44 botryoid rhabdomyosarcoma 10.0 MYOG MB DES
45 infantile myofibromatosis 10.0 MB DES
46 spindle cell rhabdomyosarcoma 10.0 MYOG MB DES
47 myofibroma 10.0 MYOG MB DES
48 melanoma 10.0
49 cataract 10.0
50 sarcoma, synovial 10.0 MYOG MYCN 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 E2F7 E2F8 MB MDM4 MYCN
2 cardiovascular system MP:0005385 10.11 DES E2F7 E2F8 MB MDM4 MYCN
3 growth/size/body region MP:0005378 10.11 E2F7 E2F8 ESD KLHL26 MB MDM4
4 embryo MP:0005380 10.06 E2F7 E2F8 MB MDM4 MYCN MYOG
5 mortality/aging MP:0010768 10.06 DES E2F7 E2F8 MB MDM4 MYCN
6 muscle MP:0005369 9.86 DES MB MDM4 MYCN MYOG RB1
7 no phenotypic analysis MP:0003012 9.63 MYCN MYOG RB1 RBL1 RBL2 VSX2
8 normal MP:0002873 9.56 E2F7 E2F8 MDM4 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 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
2
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
3
Lenograstim Approved, Investigational Phase 3 135968-09-1
4
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
7
Mesna Approved, Investigational Phase 3 3375-50-6 598
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9 topoisomerase I inhibitors Phase 3
10 Tubulin Modulators Phase 3
11 Antimitotic Agents Phase 3
12 Etoposide phosphate Phase 3
13 Antibiotics, Antitubercular Phase 3
14 Immunologic Factors Phase 3
15
Liposomal doxorubicin Phase 3 31703
16 Immunosuppressive Agents Phase 3
17 Alkylating Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Anti-Bacterial Agents Phase 3
20 Adjuvants, Immunologic Phase 2
21 Anesthetics Phase 2
22
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, Pineal, Brain, Thyroid, Testes, Retina

Publications for Bilateral Retinoblastoma

Articles related to Bilateral Retinoblastoma:

(show top 50) (show all 540)
# Title Authors PMID Year
1
The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma. 61
32434110 2020
2
Sclero-conjunctival ischaemia secondary to intra-arterial chemotherapy for retinoblastoma. 61
32149200 2020
3
Clinical Features and Long-term Prognosis of Retinoblastoma according to Age at Diagnosis. 61
32495533 2020
4
Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features. 61
32139107 2020
5
Patients, Public and Service Users are Experts by Experience: An Overview from Ophthalmology Research in Canada, UK and Beyond. 61
32114666 2020
6
Unilateral retinocytoma associated with a variant in the RB1 gene. 61
31997559 2020
7
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases. 61
32314604 2020
8
Number, frequency and time interval of examinations under anesthesia in bilateral retinoblastoma. 61
31900643 2020
9
A Potential Role For Apparent Diffusion Coefficient in the Diagnosis of Trilateral Retinoblastoma. 61
31259824 2020
10
Genomic and Transcriptomic Tumor Heterogeneity in Bilateral Retinoblastoma. 61
32191268 2020
11
Pars plana vitrectomy under melphalan irrigation for recurrent retinal detachment in eyes treated for retinoblastoma: a case report. 61
31992247 2020
12
Management of advanced uni- or bilateral retinoblastoma with macroscopic optic nerve invasion. 61
31571399 2020
13
Recurrent Sporadic Bilateral Retinoblastoma in a Child with 13q Deletion Syndrome. 61
32064198 2020
14
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
15
High-risk retinoblastoma based on age at primary enucleation: a study of 616 eyes. 61
31767966 2019
16
Alteration of facial growth after radiotherapy: orthodontic, surgical and prosthetic rehabilitation. 61
30980947 2019
17
Synchronous Urothelial Bladder and Renal Malignancies. Case Report and Review of Urologic Cancers in Patients With Familial Rb Mutations. 61
31158355 2019
18
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
19
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. 61
30449636 2019
20
Choroidal Ischemia Sparing the Watershed Zone following Intra-Arterial Chemotherapy for Retinoblastoma. 61
31049327 2019
21
[Dermatological follow-up in retinoblastoma patients : A case report]. 61
30569363 2019
22
Outcomes of pediatric retinoblastoma treated with ICEV regimen: A single-center study. 61
30983466 2019
23
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour. 61
30745306 2019
24
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. 61
30822236 2019
25
Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma. 61
30640396 2019
26
Prevalence of refractive errors in children with retinoblastoma. 61
30880903 2019
27
The Incidence of Binocular Visual Impairment and Blindness in Children with Bilateral Retinoblastoma. 61
30675470 2019
28
Chronic myeloid leukemia following treatment for bilateral retinoblastoma. 61
29727044 2018
29
Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male. 61
30320103 2018
30
Atypical Retinal Pigment Epithelial Hyperplasia and Glial Proliferation Masquerading as Progressive Recurrent Retinoblastoma: A Case Report Review and Clinicopathologic Correlation. 61
30320092 2018
31
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy. 61
29940303 2018
32
The National Registry of Retinoblastoma in Japan (1983-2014). 61
29846838 2018
33
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? 61
29336617 2018
34
Vision-Targeted Health-Related Quality of Life in Adult Survivors of Retinoblastoma. 61
29710339 2018
35
A Tale of Absent Crystalline Lens in an Eye with Retinoblastoma. 61
30643770 2018
36
Intravitreal chemotherapy and laser for newly visible subretinal seeds in retinoblastoma. 61
29513055 2018
37
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
38
Retinoblastoma Cell Culturing and Evaluation of Their Drug Resistance. 61
29796815 2018
39
Is a diagnostic lumbar puncture indicated in intraocular retinoblastoma? 61
29676357 2018
40
Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion. 61
29684226 2018
41
Parental occupational exposures and the risk of childhood sporadic retinoblastoma: a report from the Children's Oncology Group. 61
29074554 2018
42
Three presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States. 61
28949779 2018
43
Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry. 61
29217028 2017
44
Quadruple Neoplasms following Radiation Therapy for Congenital Bilateral Retinoblastoma. 61
29344496 2017
45
Adenocarcinoma of the Retinal Pigment Epithelium Arising in Conjunction with Late Recurrence and Systemic Metastasis of Retinoblastoma. 61
29344484 2017
46
Prediagnostic Intervals in Retinoblastoma: Experience at an Oncology Center in Brazil. 61
28831440 2017
47
Eye Salvage with Combination of Intravitreal and Intracameral Melphalan Injection for Recurrent Retinoblastoma with Anterior Chamber Involvement: Report of a Case. 61
28868284 2017
48
Outcome of focal treatment to residual retinoblastoma after chemotherapy (Experience with Focal Treatment of Retinoblastoma). 61
28770899 2017
49
Related visual impairment to mother-infant interaction and development in infants with bilateral retinoblastoma. 61
28478852 2017
50
Outcomes and complications after phacoemulsification in retinoblastoma patients with cataract after radiation treatment. 61
28017486 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 RBL2 RBL1 RB1
2 11.92 RBL2 RBL1 RB1
3 11.77 RBL2 RBL1 RB1
4 11.66 RBL2 RBL1 RB1
5
Show member pathways
11.51 RBL2 RBL1 E2F7
6
Show member pathways
11.36 RBL2 RBL1 RB1
7
Show member pathways
11.05 RBL2 RBL1 RB1
8 10.79 RBL2 RBL1 RB1 E2F7
9 10.34 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 nucleoplasm GO:0005654 9.86 RBL2 RBL1 RB1 MYOG MYCN MDM4
2 nuclear chromatin GO:0000790 9.55 VSX2 MYOG MYCN E2F8 E2F7
3 chromatin GO:0000785 9.26 RBL2 RBL1 RB1 MYCN
4 transcription factor complex GO:0005667 9.1 RBL2 RBL1 RB1 MYOG E2F8 E2F7

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.08 VSX2 RB1 MYOG MYCN E2F8 E2F7
2 regulation of transcription by RNA polymerase II GO:0006357 9.99 VSX2 RBL2 RBL1 RB1 MYCN
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 VSX2 RBL1 RB1 MYOG MYCN E2F8
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 VSX2 RBL1 RB1 MDM4 E2F8 E2F7
5 negative regulation of cell proliferation GO:0008285 9.9 RB1 MYOG MDM4 E2F7
6 cell cycle GO:0007049 9.85 RBL2 RBL1 RB1 MYOG E2F8 E2F7
7 negative regulation of gene expression GO:0010629 9.84 RBL2 RBL1 RB1 MYCN
8 regulation of mitotic cell cycle GO:0007346 9.72 RBL2 RBL1 RB1
9 sprouting angiogenesis GO:0002040 9.61 E2F8 E2F7
10 myoblast differentiation GO:0045445 9.58 RB1 MYOG
11 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.58 MDM4 E2F7
12 trophoblast giant cell differentiation GO:0060707 9.57 E2F8 E2F7
13 hepatocyte differentiation GO:0070365 9.56 E2F8 E2F7
14 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.56 RBL2 RBL1 RB1 E2F7
15 regulation of cell division GO:0051302 9.52 RBL2 RBL1
16 negative regulation of cytokinesis GO:0032466 9.51 E2F8 E2F7
17 chorionic trophoblast cell differentiation GO:0060718 9.49 E2F8 E2F7
18 enucleate erythrocyte differentiation GO:0043353 9.48 RB1 MB
19 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.46 RBL2 MDM4 E2F8 E2F7
20 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.43 RB1 E2F7
21 regulation of cell cycle GO:0051726 9.35 RBL2 RBL1 RB1 E2F8 E2F7
22 positive regulation of DNA endoreduplication GO:0032877 9.32 E2F8 E2F7
23 regulation of lipid kinase activity GO:0043550 8.8 RBL2 RBL1 RB1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.95 VSX2 RBL2 RB1 MYOG MYCN E2F8
2 DNA-binding transcription factor activity GO:0003700 9.83 RB1 MYOG MYCN E2F8 E2F7
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 VSX2 MYOG MYCN E2F8 E2F7
4 transcription factor binding GO:0008134 9.62 RBL1 RB1 E2F8 E2F7
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.55 RBL2 RBL1 RB1 MYOG E2F7
6 RNA polymerase II activating transcription factor binding GO:0001102 9.43 RBL2 RBL1 RB1
7 proximal promoter sequence-specific DNA binding GO:0000987 9.26 RB1 MYOG E2F8 E2F7
8 RNA polymerase II regulatory region DNA binding GO:0001012 8.8 RBL2 RBL1 RB1

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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