MCID: BLT001
MIFTS: 37

Bilateral Retinoblastoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Bilateral Retinoblastoma

MalaCards integrated aliases for Bilateral Retinoblastoma:

Name: Bilateral Retinoblastoma 12 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:4650
NCIt 50 C8713
UMLS 72 C0854914

Summaries for Bilateral Retinoblastoma

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

MalaCards based summary : Bilateral Retinoblastoma is related to familial retinoblastoma and unilateral retinoblastoma. An important gene associated with Bilateral Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are Cellular senescence (KEGG) and E2F transcription factor network. The drugs Topotecan and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and pineal, and related phenotypes are Decreased viability and Decreased viability

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 115)
# Related Disease Score Top Affiliating Genes
1 familial retinoblastoma 31.8 RB1 MYCN
2 unilateral retinoblastoma 30.8 RBL1 RB1
3 mesenchymoma 30.1 MB DES
4 leiomyosarcoma 29.9 MB DES
5 malignant mesenchymoma 29.9 MB DES
6 rhabdomyosarcoma 29.7 MYCN MB DES
7 rhabdomyosarcoma 2 29.3 MYCN MB DES
8 retinoblastoma 10.9
9 osteogenic sarcoma 10.4
10 spindle cell lipoma 10.2 RB1 DES
11 retinal cancer 10.2 RBL1 RB1
12 dedifferentiated liposarcoma 10.2 RB1 DES
13 pleuropulmonary blastoma 10.2 MYCN MB
14 giant cell myocarditis 10.2 MB DES
15 pericardium cancer 10.2 MYCN MB
16 malignant triton tumor 10.2 MB DES
17 botryoid rhabdomyosarcoma 10.1 MB DES
18 myofibroma 10.1 MB DES
19 ocular cancer 10.1 RBL1 RB1
20 spindle cell rhabdomyosarcoma 10.1 MB DES
21 undifferentiated pleomorphic sarcoma 10.1
22 adenosarcoma 10.1 MB DES
23 liposarcoma 10.1 MB DES
24 retinal detachment 10.1
25 yemenite deaf-blind hypopigmentation syndrome 10.1
26 pineoblastoma 10.1
27 malignant fibroxanthoma 10.1
28 histiocytoma 10.1
29 spindle cell sarcoma 10.1
30 fibrous histiocytoma 10.1
31 intraocular retinoblastoma 10.1
32 infantile myofibromatosis 10.0 MB DES
33 uterine sarcoma 10.0 MB DES
34 nervous system cancer 10.0 RBL1 RB1 MYCN
35 melanoma 10.0
36 cataract 10.0
37 muscle cancer 10.0 MB DES
38 cavernous hemangioma 9.9 MB DES
39 exudative vitreoretinopathy 1 9.9
40 down syndrome 9.9
41 arima syndrome 9.9
42 neuroblastoma 1 9.9
43 meningioma, radiation-induced 9.9
44 meningioma, familial 9.9
45 angiosarcoma 9.9
46 sarcoma 9.9
47 spinal meningioma 9.9
48 blind hypotensive eye 9.9
49 adenocarcinoma 9.9
50 papillary adenocarcinoma 9.9

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



Diseases related to Bilateral Retinoblastoma

Symptoms & Phenotypes for Bilateral Retinoblastoma

GenomeRNAi Phenotypes related to Bilateral Retinoblastoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.7 CALM2
2 Decreased viability GR00221-A-1 9.7 CALM2 DLG2 RBL1
3 Decreased viability GR00221-A-2 9.7 CALM2 DLG2 RBL1
4 Decreased viability GR00221-A-4 9.7 CALM2
5 Decreased viability GR00301-A 9.7 CALM2
6 Decreased viability GR00402-S-2 9.7 CALM2 DLG2 RBL1

MGI Mouse Phenotypes related to Bilateral Retinoblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 DES MB MYCN RB1 RBL1 VSX2
2 muscle MP:0005369 9.02 DES MB MYCN RB1 RBL1

Drugs & Therapeutics for Bilateral Retinoblastoma

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
2
Etoposide Approved Phase 3 33419-42-0 36462
3
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
4
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
5
Lenograstim Approved, Investigational Phase 3 135968-09-1
6
Mesna Approved, Investigational Phase 3 3375-50-6 598
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
9 topoisomerase I inhibitors Phase 3
10 Topoisomerase Inhibitors Phase 3
11 Etoposide phosphate Phase 3
12 Antineoplastic Agents, Phytogenic Phase 3
13 Tubulin Modulators Phase 3
14 Antimitotic Agents Phase 3
15 Alkylating Agents Phase 3
16
Liposomal doxorubicin Phase 3 31703
17 Anti-Bacterial Agents Phase 3
18 Immunosuppressive Agents Phase 3
19 Antibiotics, Antitubercular Phase 3
20 Immunologic Factors Phase 3
21 Antineoplastic Agents, Alkylating Phase 3
22 Antirheumatic Agents Phase 3
23
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
24 Adjuvants, Immunologic Phase 2
25 Anesthetics Phase 2
26
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:

41
Eye, Bone, Pineal, Brain, Testes, Thyroid, Retina

Publications for Bilateral Retinoblastoma

Articles related to Bilateral Retinoblastoma:

(show top 50) (show all 526)
# Title Authors PMID Year
1
A Potential Role For Apparent Diffusion Coefficient in the Diagnosis of Trilateral Retinoblastoma. 38
31259824 2019
2
Synchronous Urothelial Bladder and Renal Malignancies. Case Report and Review of Urologic Cancers in Patients With Familial Rb Mutations. 38
31158355 2019
3
Alteration of facial growth after radiotherapy: orthodontic, surgical and prosthetic rehabilitation. 38
30980947 2019
4
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. 38
30502422 2019
5
Choroidal Ischemia Sparing the Watershed Zone following Intra-Arterial Chemotherapy for Retinoblastoma. 38
31049327 2019
6
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. 38
30449636 2019
7
[Dermatological follow-up in retinoblastoma patients : A case report]. 38
30569363 2019
8
Outcomes of pediatric retinoblastoma treated with ICEV regimen: A single-center study. 38
30983466 2019
9
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. 38
30822236 2019
10
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour. 38
30745306 2019
11
The Incidence of Binocular Visual Impairment and Blindness in Children with Bilateral Retinoblastoma. 38
30675470 2019
12
Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma. 38
30640396 2019
13
Prevalence of refractive errors in children with retinoblastoma. 38
30880903 2019
14
Chronic myeloid leukemia following treatment for bilateral retinoblastoma. 38
29727044 2018
15
Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male. 38
30320103 2018
16
Atypical Retinal Pigment Epithelial Hyperplasia and Glial Proliferation Masquerading as Progressive Recurrent Retinoblastoma: A Case Report Review and Clinicopathologic Correlation. 38
30320092 2018
17
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy. 38
29940303 2018
18
The National Registry of Retinoblastoma in Japan (1983-2014). 38
29846838 2018
19
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? 38
29336617 2018
20
Vision-Targeted Health-Related Quality of Life in Adult Survivors of Retinoblastoma. 38
29710339 2018
21
A Tale of Absent Crystalline Lens in an Eye with Retinoblastoma. 38
30643770 2018
22
Intravitreal chemotherapy and laser for newly visible subretinal seeds in retinoblastoma. 38
29513055 2018
23
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. 38
29579639 2018
24
Retinoblastoma Cell Culturing and Evaluation of Their Drug Resistance. 38
29796815 2018
25
Is a diagnostic lumbar puncture indicated in intraocular retinoblastoma? 38
29676357 2018
26
Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion. 38
29684226 2018
27
Parental occupational exposures and the risk of childhood sporadic retinoblastoma: a report from the Children's Oncology Group. 38
29074554 2018
28
Three presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States. 38
28949779 2018
29
Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry. 38
29217028 2017
30
Quadruple Neoplasms following Radiation Therapy for Congenital Bilateral Retinoblastoma. 38
29344496 2017
31
Adenocarcinoma of the Retinal Pigment Epithelium Arising in Conjunction with Late Recurrence and Systemic Metastasis of Retinoblastoma. 38
29344484 2017
32
Prediagnostic Intervals in Retinoblastoma: Experience at an Oncology Center in Brazil. 38
28831440 2017
33
Eye Salvage with Combination of Intravitreal and Intracameral Melphalan Injection for Recurrent Retinoblastoma with Anterior Chamber Involvement: Report of a Case. 38
28868284 2017
34
Outcome of focal treatment to residual retinoblastoma after chemotherapy (Experience with Focal Treatment of Retinoblastoma). 38
28770899 2017
35
Related visual impairment to mother-infant interaction and development in infants with bilateral retinoblastoma. 38
28478852 2017
36
Outcomes and complications after phacoemulsification in retinoblastoma patients with cataract after radiation treatment. 38
28017486 2017
37
Genetic screening in Iranian patients with retinoblastoma. 38
27983729 2017
38
Genetics and Molecular Diagnostics in Retinoblastoma--An Update. 38
28399338 2017
39
Proliferative Vitreoretinopathy in Treated Retinoblastoma. 38
28435935 2017
40
Mosaicism and prenatal diagnosis options: insights from retinoblastoma. 38
28000698 2017
41
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. 38
29261756 2017
42
Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia. 38
29230267 2017
43
Ocular Salvage and Vision Preservation Using a Topotecan-Based Regimen for Advanced Intraocular Retinoblastoma. 38
28034080 2017
44
Acute Hemorrhagic Retinopathy following Intravitreal Melphalan Injection for Retinoblastoma: A Report of Two Cases and Technical Modifications to Enhance the Prevention of Retinal Toxicity. 38
28275601 2017
45
A long follow-up of a patient with bilateral retinoblastoma who underwent globe-preserving therapy and had metastasis after 72mo. 38
29062787 2017
46
Prenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India. 38
26914665 2016
47
Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement. 38
27815188 2016
48
Tumor Regression Patterns in Retinoblastoma. 38
27981923 2016
49
Long-term visual outcomes in intraocular retinoblastoma with eye preservation. 38
26781471 2016
50
Molecular diagnosis in patients with retinoblastoma: Report of a series of cases. 38
27021801 2016

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 11.34 RBL1 RB1 CALM2
2 11.12 RBL1 RB1
3
Show member pathways
10.87 RBL1 RB1
4 9.83 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 voltage-gated potassium channel complex GO:0008076 9.16 DLG2 CALM2
2 neuromuscular junction GO:0031594 8.96 DLG2 DES
3 chromatin GO:0000785 8.8 RBL1 RB1 MYCN

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.33 RBL1 RB1 MYCN
2 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.32 RBL1 RB1
3 regulation of mitotic cell cycle GO:0007346 9.26 RBL1 RB1
4 enucleate erythrocyte differentiation GO:0043353 8.96 RB1 MB
5 regulation of lipid kinase activity GO:0043550 8.62 RBL1 RB1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II activating transcription factor binding GO:0001102 9.26 RBL1 RB1
2 disordered domain specific binding GO:0097718 9.16 RB1 CALM2
3 RNA polymerase II regulatory region DNA binding GO:0001012 8.96 RBL1 RB1
4 kinase binding GO:0019900 8.8 RB1 MYCN DLG2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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