MCID: BLT001
MIFTS: 35

Bilateral Retinoblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Bilateral Retinoblastoma

MalaCards integrated aliases for Bilateral Retinoblastoma:

Name: Bilateral Retinoblastoma 12 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:4650
NCIt 50 C8713
UMLS 70 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 leiomyosarcoma. An important gene associated with Bilateral Retinoblastoma is RBL1 (RB Transcriptional Corepressor Like 1), and among its related pathways/superpathways are Cell cycle and Cyclins and Cell Cycle Regulation. Affiliated tissues include eye, pineal and thyroid, 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 132)
# Related Disease Score Top Affiliating Genes
1 familial retinoblastoma 30.3 RBL1 RB1 ESD E2F8
2 leiomyosarcoma 30.2 RB1 MYOG MB DES
3 malignant fibrous histiocytoma 30.2 MYOG MB DES
4 intraocular retinoblastoma 30.1 MYCN MDM4
5 retinoblastoma 30.0 RBL2 RBL1 RB1 MYCN MDM4 LPAR6
6 malignant mesenchymoma 29.9 MYOG MB DES
7 leukocoria 29.7 VSX2 RB1 LPAR6
8 rhabdomyosarcoma 29.6 RB1 MYOG MYCN MB DES
9 rhabdomyosarcoma 2 29.2 RB1 MYOG MYCN MB DES
10 unilateral retinoblastoma 28.7 VSX2 RBL2 RBL1 RB1 MYCN MDM4
11 osteogenic sarcoma 10.4
12 extracranial neuroblastoma 10.2 MYOG MYCN
13 cervical neuroblastoma 10.2 MYOG MYCN
14 skeletal muscle neoplasm 10.2 MYOG MB
15 spindle cell lipoma 10.2 RB1 DES
16 orbit embryonal rhabdomyosarcoma 10.2 MYOG MB
17 inflammatory leiomyosarcoma 10.2 MYOG DES
18 gallbladder sarcoma 10.2 MYOG DES
19 giant cell myocarditis 10.2 MB DES
20 cervical polyp 10.2 MYOG DES
21 ectomesenchymoma 10.1 MYOG DES
22 breast rhabdomyosarcoma 10.1 MYOG MB
23 embryonal sarcoma 10.1 MYOG DES
24 gas gangrene 10.1 MYOG MB
25 epithelioid leiomyosarcoma 10.1 MB DES
26 retinal detachment 10.1
27 fibrous histiocytoma 10.1
28 myofibroma 10.1 MB DES
29 congenital fibrosarcoma 10.1 MYOG DES
30 papilloma 10.1 RBL2 RBL1 RB1
31 adenosarcoma 10.0 MB DES
32 orbit rhabdomyosarcoma 10.0 MYOG MYCN MB
33 pleomorphic rhabdomyosarcoma 10.0 MYOG MB
34 pseudosarcomatous fibromatosis 10.0 MYOG DES
35 hypotrichosis 8 10.0 RB1 LPAR6
36 skeletal muscle cancer 10.0 MYOG MYCN MB
37 yemenite deaf-blind hypopigmentation syndrome 10.0
38 pineoblastoma 10.0
39 spindle cell sarcoma 10.0
40 cataract 10.0
41 nervous system cancer 10.0 RBL1 RB1 MYCN
42 pleuropulmonary blastoma 10.0 MYCN MB DES
43 malignant triton tumor 10.0 MYOG MB DES
44 medullomyoblastoma 10.0 MYOG MB DES
45 mesenchymal chondrosarcoma 10.0 MYOG DES
46 botryoid rhabdomyosarcoma 10.0 MYOG MB DES
47 spindle cell rhabdomyosarcoma 10.0 MYOG MB DES
48 sarcoma, synovial 10.0 MYOG MYCN DES
49 alveolar soft part sarcoma 10.0 MYOG MB DES
50 exudative vitreoretinopathy 1 9.9

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 DES E2F8 MB MDM4 MYCN MYOG
2 cardiovascular system MP:0005385 10.09 DES E2F8 ESD MB MDM4 MYCN
3 mortality/aging MP:0010768 10.02 DES E2F8 MB MDM4 MYCN MYOG
4 embryo MP:0005380 9.97 E2F8 MB MDM4 MYCN MYOG RB1
5 muscle MP:0005369 9.86 DES MB MDM4 MYCN MYOG RB1
6 no phenotypic analysis MP:0003012 9.63 MYCN MYOG RB1 RBL1 RBL2 VSX2
7 normal MP:0002873 9.5 E2F8 MDM4 MYCN MYOG RB1 RBL1
8 respiratory system MP:0005388 9.17 E2F8 MB MYCN MYOG RB1 RBL1

Drugs & Therapeutics for Bilateral Retinoblastoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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, Pineal, Thyroid, Myeloid, Bone, Brain, Retina

Publications for Bilateral Retinoblastoma

Articles related to Bilateral Retinoblastoma:

(show top 50) (show all 555)
# Title Authors PMID Year
1
Chemoreduction with topotecan and vincristine: Quantifying tumor response in bilateral retinoblastoma patients. 61
33507604 2021
2
Clinical Features and Survival of Chinese Children With Trilateral Retinoblastoma During 2006-2019: A Retrospective Multicenter Study. 61
33049241 2021
3
Retinoblastoma tumor cell proliferation is negatively associated with an immune gene expression signature and increased immune cells. 61
33658609 2021
4
Progressive Preretinal Fibrosis with Late, Ossifying, Proliferative Retinopathy following Treatment for Retinoblastoma. 61
33796516 2021
5
Genetic predisposition to fetal and neonatal cancer. 61
33385285 2021
6
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome. 61
33037780 2021
7
Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma. 61
33375764 2020
8
13q interstitial deletion in a moroccan child with hereditary retinoblastoma and intellectual disability: A case report. 61
33224486 2020
9
Secondary acute myeloid leukemia in a child treated for retinoblastoma: A case report with review of literature. 61
33532438 2020
10
Medical radiation exposure and risk of sporadic retinoblastoma. 61
32743912 2020
11
Successful salvage intravenous chemotherapy after tandem selective ophthalmic artery infusion chemotherapy in bilateral retinoblastoma. 61
33120714 2020
12
Ocular preservation in patients with bilateral retinoblastoma before chemotherapy in situ era: A report from a Mexican Retinoblastoma Reference Hospital. 61
32743978 2020
13
Bone metastasis of retinoblastoma five years after primary treatment. 61
32715161 2020
14
High-risk retinoblastoma based on age at primary enucleation: a study of 616 eyes. 61
31767966 2020
15
The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma. 61
32434110 2020
16
Clinical Features and Long-term Prognosis of Retinoblastoma according to Age at Diagnosis. 61
32495533 2020
17
Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features. 61
32139107 2020
18
Sclero-conjunctival ischaemia secondary to intra-arterial chemotherapy for retinoblastoma. 61
32149200 2020
19
Patients, Public and Service Users are Experts by Experience: An Overview from Ophthalmology Research in Canada, UK and Beyond. 61
32114666 2020
20
Genomic and Transcriptomic Tumor Heterogeneity in Bilateral Retinoblastoma. 61
32191268 2020
21
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases. 61
32314604 2020
22
Number, frequency and time interval of examinations under anesthesia in bilateral retinoblastoma. 61
31900643 2020
23
A Potential Role For Apparent Diffusion Coefficient in the Diagnosis of Trilateral Retinoblastoma. 61
31259824 2020
24
Unilateral retinocytoma associated with a variant in the RB1 gene. 61
31997559 2020
25
13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping. 61
32760450 2020
26
Recurrent Sporadic Bilateral Retinoblastoma in a Child with 13q Deletion Syndrome. 61
32064198 2020
27
Management of advanced uni- or bilateral retinoblastoma with macroscopic optic nerve invasion. 61
31571399 2020
28
Clinical Presentations and Outcomes of Retinoblastoma Patients in relation to the Advent of New Multimodal Treatments: A 12-Year Report from Single Tertiary Referral Institute in Thailand. 61
33005446 2020
29
Pars plana vitrectomy under melphalan irrigation for recurrent retinal detachment in eyes treated for retinoblastoma: a case report. 61
31992247 2020
30
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
31
Synchronous Urothelial Bladder and Renal Malignancies. Case Report and Review of Urologic Cancers in Patients With Familial Rb Mutations. 61
31158355 2019
32
Alteration of facial growth after radiotherapy: orthodontic, surgical and prosthetic rehabilitation. 61
30980947 2019
33
[Dermatological follow-up in retinoblastoma patients : A case report]. 61
30569363 2019
34
Choroidal Ischemia Sparing the Watershed Zone following Intra-Arterial Chemotherapy for Retinoblastoma. 61
31049327 2019
35
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
36
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. 61
30449636 2019
37
Outcomes of pediatric retinoblastoma treated with ICEV regimen: A single-center study. 61
30983466 2019
38
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour. 61
30745306 2019
39
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. 61
30822236 2019
40
Prevalence of refractive errors in children with retinoblastoma. 61
30880903 2019
41
The Incidence of Binocular Visual Impairment and Blindness in Children with Bilateral Retinoblastoma. 61
30675470 2019
42
Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma. 61
30640396 2019
43
Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male. 61
30320103 2018
44
Chronic myeloid leukemia following treatment for bilateral retinoblastoma. 61
29727044 2018
45
Atypical Retinal Pigment Epithelial Hyperplasia and Glial Proliferation Masquerading as Progressive Recurrent Retinoblastoma: A Case Report Review and Clinicopathologic Correlation. 61
30320092 2018
46
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy. 61
29940303 2018
47
The National Registry of Retinoblastoma in Japan (1983-2014). 61
29846838 2018
48
Vision-Targeted Health-Related Quality of Life in Adult Survivors of Retinoblastoma. 61
29710339 2018
49
Intravitreal chemotherapy and laser for newly visible subretinal seeds in retinoblastoma. 61
29513055 2018
50
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? 61
29336617 2018

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 11.99 RBL2 RBL1 RB1
2
Show member pathways
11.96 RBL2 RBL1 RB1
3 11.89 RBL2 RBL1 RB1
4 11.74 RBL2 RBL1 RB1
5 11.62 RBL2 RBL1 RB1
6 11.3 RBL2 RBL1 RB1
7
Show member pathways
11.26 RBL2 RBL1 RB1
8
Show member pathways
10.85 RBL2 RBL1 RB1
9 10 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 chromatin GO:0000785 9.5 VSX2 RBL2 RBL1 RB1 MYOG MYCN
2 transcription factor complex GO:0005667 9.02 RBL2 RBL1 RB1 MYOG E2F8

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 VSX2 RBL1 RB1 MDM4 E2F8
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 RBL1 RB1 MYOG MYCN MDM4 E2F8
3 cell cycle GO:0007049 9.77 RBL2 RBL1 RB1 MYOG E2F8
4 negative regulation of gene expression GO:0010629 9.71 RBL2 RBL1 RB1 MYCN
5 regulation of cell cycle GO:0051726 9.67 RBL2 RBL1 RB1
6 regulation of transcription by RNA polymerase II GO:0006357 9.56 VSX2 RBL2 RBL1 RB1 MYOG MYCN
7 skeletal muscle cell differentiation GO:0035914 9.51 RB1 MYOG
8 myoblast differentiation GO:0045445 9.46 RB1 MYOG
9 regulation of cell division GO:0051302 9.43 RBL2 RBL1
10 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.43 RBL2 RBL1 RB1
11 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.33 RBL2 MDM4 E2F8
12 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 sequence-specific double-stranded DNA binding GO:1990837 9.46 VSX2 MYOG MYCN E2F8
2 RNA polymerase II activating transcription factor binding GO:0001102 9.13 RBL2 RBL1 RB1
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.02 VSX2 RBL2 RBL1 RB1 MYOG

Sources for Bilateral Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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