MCID: BLT001
MIFTS: 38

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 74

Classifications:



External Ids:

Disease Ontology 12 DOID:4650
NCIt 51 C8713
UMLS 74 C0854914

Summaries for Bilateral Retinoblastoma

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

MalaCards based summary : Bilateral Retinoblastoma is related to unilateral retinoblastoma and leiomyosarcoma. 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 Carboplatin and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and myeloid, 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 65)
# Related Disease Score Top Affiliating Genes
1 unilateral retinoblastoma 29.9 RB1 RBL1
2 leiomyosarcoma 29.9 DES MB
3 retinoblastoma 10.8
4 familial retinoblastoma 10.2 MYCN RB1
5 retinal cancer 10.1 RB1 RBL1
6 spindle cell lipoma 10.1 DES RB1
7 ocular cancer 10.1 RB1 RBL1
8 pleuropulmonary blastoma 10.1 MB MYCN
9 dedifferentiated liposarcoma 10.0 DES RB1
10 pericardium cancer 10.0 MB MYCN
11 giant cell myocarditis 10.0 DES MB
12 malignant triton tumor 10.0 DES MB
13 botryoid rhabdomyosarcoma 10.0 DES MB
14 mesenchymoma 10.0 DES MB
15 spindle cell rhabdomyosarcoma 10.0 DES MB
16 myofibroma 10.0 DES MB
17 adenosarcoma 10.0 DES MB
18 liposarcoma 9.9 DES MB
19 nervous system cancer 9.9 MYCN RB1 RBL1
20 infantile myofibromatosis 9.9 DES MB
21 malignant mesenchymoma 9.9 DES MB
22 uterine sarcoma 9.9 DES MB
23 muscle cancer 9.9 DES MB
24 exudative vitreoretinopathy 1 9.9
25 arima syndrome 9.9
26 sarcoma 9.9
27 joubert syndrome with oculorenal anomalies 9.9
28 cavernous hemangioma 9.9 DES MB
29 alveolar soft part sarcoma 9.8 DES MB
30 medullomyoblastoma 9.8 DES MB MYCN
31 embryonal rhabdomyosarcoma 9.7 DES MB MYCN
32 rhabdomyosarcoma 9.7 DES MB MYCN
33 rhabdomyosarcoma 2 9.7 DES MB MYCN
34 pilomatrixoma 9.7
35 down syndrome 9.7
36 neuroblastoma 9.7
37 osteogenic sarcoma 9.7
38 incontinentia pigmenti 9.7
39 wilms tumor 5 9.7
40 yemenite deaf-blind hypopigmentation syndrome 9.7
41 wilms tumor 6 9.7
42 leukemia 9.7
43 fibroma 9.7
44 microphthalmia 9.7
45 orbital cellulitis 9.7
46 blind hypotensive eye 9.7
47 pineoblastoma 9.7
48 ossifying fibroma 9.7
49 malignant fibroxanthoma 9.7
50 melanoma 9.7

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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 DES MB MYCN RB1 RBL1
2 muscle MP:0005369 9.35 DES MB MYCN RB1 RBL1
3 respiratory system MP:0005388 8.92 MB MYCN RB1 RBL1

Drugs & Therapeutics for Bilateral Retinoblastoma

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 38904 10339178 498142
2
Etoposide Approved Phase 3,Phase 2,Phase 1 33419-42-0 36462
3
Mesna Approved, Investigational Phase 3,Phase 2 3375-50-6 598
4
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 2068-78-2, 57-22-7 5978
5
Lenograstim Approved, Investigational Phase 3,Phase 2,Not Applicable 135968-09-1
6
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 6055-19-2, 50-18-0 2907
7
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
8
Topotecan Approved, Investigational Phase 3,Phase 2,Not Applicable 123948-87-8, 119413-54-6 60700
9
Doxil Approved June 1999 Phase 3,Phase 2 31703
10 Etoposide phosphate Phase 3,Phase 2,Phase 1
11 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
12 Anti-Bacterial Agents Phase 3,Phase 2
13 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
14 Immunologic Factors Phase 3,Phase 2,Phase 1
15 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
16 Alkylating Agents Phase 3,Phase 2,Phase 1
17 Antibiotics, Antitubercular Phase 3,Phase 2
18 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
19 topoisomerase I inhibitors Phase 3,Phase 2,Not Applicable
20 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable
21 Antirheumatic Agents Phase 3,Phase 2
22 Anesthetics Phase 3,Phase 2
23
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
26 Adjuvants, Immunologic Phase 2
27 Cyclosporins Phase 2
28 Antifungal Agents Phase 2
29 Dermatologic Agents Phase 2
30 Calcineurin Inhibitors Phase 2
31 Anti-Infective Agents Phase 2
32
Melphalan Approved Phase 1 148-82-3 460612 4053
33
Ethanol Approved 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Treatment for Patients With Cancer of the Eye -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 Treatment for 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 Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma Active, not recruiting NCT00110110 Phase 2 Carboplatin;Cyclosporine;Etoposide;vincristine sulfate
5 Proton Beam Radiation Therapy for Intraocular and Periocular Retinoblastoma Terminated NCT00432445 Phase 2
6 Alternating Systemic Chemotherapy and Intra-Arterial Melphalan Chemotherapy in Children With Intra-Ocular Retinoblastoma Active, not recruiting NCT02116959 Phase 1 Melphalan;Carboplatin;Etoposide;Vincristine
7 Molecular Analysis of Retinoblastoma Completed NCT00718783
8 Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers Completed NCT00690469
9 Pilot Study of Topotecan/Vincristine With Subconjunctival Carboplatin for Patients With Bilateral Retinoblastoma Withdrawn NCT00980551 Not Applicable 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:

42
Eye, Bone, Myeloid, Pineal

Publications for Bilateral Retinoblastoma

Articles related to Bilateral Retinoblastoma:

(show top 50) (show all 151)
# Title Authors Year
1
Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma. ( 30640396 )
2019
2
The Incidence of Binocular Visual Impairment and Blindness in Children with Bilateral Retinoblastoma. ( 30675470 )
2019
3
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. ( 30822236 )
2019
4
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy. ( 29940303 )
2018
5
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. ( 29579639 )
2018
6
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? ( 29336617 )
2018
7
Chronic myeloid leukemia following treatment for bilateral retinoblastoma. ( 29727044 )
2018
8
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. ( 30449636 )
2018
9
Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male. ( 30320103 )
2018
10
Quadruple Neoplasms following Radiation Therapy for Congenital Bilateral Retinoblastoma. ( 29344496 )
2017
11
A long follow-up of a patient with bilateral retinoblastoma who underwent globe-preserving therapy and had metastasis after 72mo. ( 29062787 )
2017
12
Related visual impairment to mother-infant interaction and development in infants with bilateral retinoblastoma. ( 28478852 )
2017
13
Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement. ( 27815188 )
2016
14
Simultaneous Bilateral Ophthalmic Artery Chemosurgery for Bilateral Retinoblastoma (Tandem Therapy). ( 27258771 )
2016
15
Urinary bladder leiomyosarcoma following radiotherapy in a patient with bilateral retinoblastoma: A case report. ( 26604453 )
2015
16
Very late relapse of bilateral retinoblastoma. ( 25757022 )
2015
17
Intra-arterial chemotherapy for bilateral retinoblastoma via left ophthalmic artery and right anterior deep temporal artery. ( 25240013 )
2014
18
Papillary cystadenocarcinoma of the lacrimal gland after radiation for bilateral retinoblastoma. ( 24807542 )
2014
19
Diagnostic delay and sociodemographic predictors of stage at diagnosis and mortality in unilateral and bilateral retinoblastoma. ( 24521997 )
2014
20
Treatment outcome of osteosarcoma after bilateral retinoblastoma: a retrospective study of eight cases. ( 24795337 )
2014
21
Bilateral retinoblastoma in early infancy. ( 23584660 )
2013
22
How long is the interval of onsets of bilateral retinoblastoma? ( 24392346 )
2013
23
Efficacy of vincristine and carboplatin as chemo-reduction for advanced bilateral retinoblastoma, the Saudi experience. ( 24227985 )
2013
24
Long-term outcomes of Group D eyes in bilateral retinoblastoma patients treated with chemoreduction and low-dose IMRT salvage. ( 22997170 )
2013
25
Bilateral retinoblastoma: clinical presentation, management and treatment. ( 23277210 )
2013
26
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. ( 22963398 )
2013
27
A case-control study of paternal occupational exposures and the risk of childhood sporadic bilateral retinoblastoma. ( 23503471 )
2013
28
Post-chemoreduction cryptic optic nerve relapse in a patient with bilateral retinoblastoma. ( 23172878 )
2013
29
Pilomatrixoma in a patient with bilateral retinoblastoma. ( 23313048 )
2013
30
A case of bilateral retinoblastoma with a novel mutation presenting at retinopathy of prematurity screening. ( 22729126 )
2012
31
Osteosarcoma as a second malignant disease in a case of bilateral retinoblastoma. ( 22754860 )
2011
32
"Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? ( 21041048 )
2011
33
Bilateral retinoblastoma presenting as metastases to forearm bones four years after the initial treatment. ( 22174523 )
2011
34
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. ( 20728296 )
2011
35
Intensity modulated radiotherapy (IMRT) in bilateral retinoblastoma. ( 22933915 )
2010
36
Bilateral superselective ophthalmic artery chemotherapy for bilateral retinoblastoma: tandem therapy. ( 20212212 )
2010
37
Retinocytoma associated with bilateral retinoblastoma. ( 20195043 )
2010
38
Bilateral retinoblastoma presenting at retinopathy of prematurity screening. ( 20576664 )
2010
39
A case of bilateral retinoblastoma with left orbital cellulitis. ( 19321854 )
2009
40
Analysis of ototoxicity in young children receiving carboplatin in the context of conservative management of unilateral or bilateral retinoblastoma. ( 19148943 )
2009
41
Salvage external beam radiotherapy after failed primary chemotherapy for bilateral retinoblastoma: rate of eye and vision preservation. ( 19329423 )
2009
42
Bilateral Retinoblastoma Presenting with Unilateral Phthisis. ( 19928701 )
2009
43
Leiomyosarcoma of the urinary bladder in a patient with bilateral retinoblastoma. ( 18489647 )
2008
44
Bilateral retinoblastoma in early infancy: a case report. ( 18604094 )
2007
45
Murine bilateral retinoblastoma exhibiting rapid-onset, metastatic progression and N-myc gene amplification. ( 17235288 )
2007
46
Pleomorphic adenoma of the lacrimal gland in an 18-year-old girl irradiated for bilateral retinoblastoma. ( 16527777 )
2006
47
Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma? ( 16003734 )
2006
48
Leiomyosarcoma of the bladder in a 16-year-old girl with a history of cyclophosphamide therapy for bilateral retinoblastoma during infancy. ( 16598333 )
2006
49
Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India. ( 16225399 )
2005
50
Loss of 10p material in a child with human papillomavirus-positive disseminated bilateral retinoblastoma. ( 16102585 )
2005

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 CALM2 RB1 RBL1
2 11.12 RB1 RBL1
3
Show member pathways
10.87 RB1 RBL1
4 9.83 RB1 RBL1

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 CALM2 DLG2
2 neuromuscular junction GO:0031594 8.96 DES DLG2
3 chromatin GO:0000785 8.8 MYCN RB1 RBL1

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 MYCN RB1 RBL1
2 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.32 RB1 RBL1
3 regulation of mitotic cell cycle GO:0007346 9.26 RB1 RBL1
4 enucleate erythrocyte differentiation GO:0043353 8.96 MB RB1
5 regulation of lipid kinase activity GO:0043550 8.62 RB1 RBL1

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 RB1 RBL1
2 disordered domain specific binding GO:0097718 9.16 CALM2 RB1
3 RNA polymerase II regulatory region DNA binding GO:0001012 8.96 RB1 RBL1
4 kinase binding GO:0019900 8.8 DLG2 MYCN RB1

Sources for Bilateral Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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