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MCID: BLT001
MIFTS: 39

Bilateral Retinoblastoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Bilateral Retinoblastoma

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MalaCards integrated aliases for Bilateral Retinoblastoma:

Name: Bilateral Retinoblastoma 12 15 73

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:4650
NCIt 50 C8713
UMLS 73 C0854914
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Summaries for Bilateral Retinoblastoma

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

MalaCards based summary : Bilateral Retinoblastoma is related to leiomyosarcoma and unilateral retinoblastoma. An important gene associated with Bilateral Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are E2F transcription factor network and Macrophage Differentiation and Growth Inhibition by METS. The drugs Carboplatin and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and pineal, and related phenotypes are Decreased viability in esophageal squamous lineage and cellular

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Related Diseases for Bilateral Retinoblastoma

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 leiomyosarcoma 30.0 DES MB
2 unilateral retinoblastoma 29.8 RB1 RBL1
3 retinoblastoma 10.8
4 non-hereditary retinoblastoma 10.1 MYCN RB1
5 familial retinoblastoma 10.1 MYCN RB1
6 retinal cancer 10.1 RB1 RBL1
7 spindle cell lipoma 10.0 DES RB1
8 ocular cancer 10.0 RB1 RBL1
9 pleuropulmonary blastoma 10.0 MB MYCN
10 pericardium cancer 10.0 MB MYCN
11 liposarcoma 10.0 DES MB
12 giant cell myocarditis 10.0 DES MB
13 malignant triton tumor 10.0 DES MB
14 botryoid rhabdomyosarcoma 10.0 DES MB
15 mesenchymoma 10.0 DES MB
16 spindle cell rhabdomyosarcoma 10.0 DES MB
17 myofibroma 10.0 DES MB
18 adenosarcoma 10.0 DES MB
19 nervous system cancer 10.0 MYCN RB1 RBL1
20 infantile myofibromatosis 10.0 DES MB
21 malignant mesenchymoma 9.9 DES MB
22 uterine sarcoma 9.9 DES MB
23 muscle cancer 9.9 DES MB
24 alveolar soft part sarcoma 9.9 DES MB
25 exudative vitreoretinopathy 1 9.9
26 arima syndrome 9.9
27 sarcoma 9.9
28 joubert syndrome with oculorenal anomalies 9.9
29 dedifferentiated liposarcoma 9.9 DES MB RB1
30 medullomyoblastoma 9.8 DES MB MYCN
31 embryonal rhabdomyosarcoma 9.8 DES MB MYCN
32 rhabdomyosarcoma 9.8 DES MB MYCN
33 rhabdomyosarcoma 2 9.8 DES MB MYCN
34 endometrial stromal sarcoma 9.8 DES MB
35 pilomatrixoma 9.7
36 neuroblastoma 9.7
37 osteogenic sarcoma 9.7
38 incontinentia pigmenti 9.7
39 wilms tumor 6 9.7
40 leukemia 9.7
41 microphthalmia 9.7
42 orbital cellulitis 9.7
43 blind hypotensive eye 9.7
44 pineoblastoma 9.7
45 ossifying fibroma 9.7
46 malignant fibroxanthoma 9.7
47 melanoma 9.7
48 adenocarcinoma 9.7
49 papillary cystadenocarcinoma 9.7
50 cystadenocarcinoma 9.7

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



Diseases related to Bilateral Retinoblastoma
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Symptoms & Phenotypes for Bilateral Retinoblastoma

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.02 DES MB MYCN RB1 SUCLA2

MGI Mouse Phenotypes related to Bilateral Retinoblastoma:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.99 DES MB MYCN RB1 RBL1 SUCLA2
2 cardiovascular system MP:0005385 9.92 DES MB MYCN RB1 RBL1
3 growth/size/body region MP:0005378 9.91 FREM1 MB MYCN RB1 RBL1 SUCLA2
4 homeostasis/metabolism MP:0005376 9.88 DES MB MYCN RB1 RBL1 SUCLA2
5 embryo MP:0005380 9.85 MB MYCN RB1 RBL1 SUCLA2
6 craniofacial MP:0005382 9.8 FREM1 MYCN RB1 RBL1
7 mortality/aging MP:0010768 9.8 DES FREM1 MB MYCN RB1 RBL1
8 digestive/alimentary MP:0005381 9.78 FREM1 MYCN RB1 RBL1
9 limbs/digits/tail MP:0005371 9.67 FREM1 MYCN RB1 RBL1
10 muscle MP:0005369 9.63 DES FREM1 MB MYCN RB1 RBL1
11 liver/biliary system MP:0005370 9.62 FREM1 MYCN RB1 RBL1
12 renal/urinary system MP:0005367 9.26 FREM1 MYCN RB1 RBL1
13 respiratory system MP:0005388 9.02 FREM1 MB MYCN RB1 RBL1
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Drugs & Therapeutics for Bilateral Retinoblastoma

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

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

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Genetic Tests for Bilateral Retinoblastoma

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Anatomical Context for Bilateral Retinoblastoma

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MalaCards organs/tissues related to Bilateral Retinoblastoma:

41
Eye, Bone, Pineal, Myeloid, Lung, Skin
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Publications for Bilateral Retinoblastoma

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Articles related to Bilateral Retinoblastoma:

(show top 50) (show all 148)
# Title Authors Year
1
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy. ( 29940303 )
2018
2
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
3
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? ( 29336617 )
2018
4
Chronic myeloid leukemia following treatment for bilateral retinoblastoma. ( 29727044 )
2018
5
Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male. ( 30320103 )
2018
6
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. ( 30449636 )
2018
7
Quadruple Neoplasms following Radiation Therapy for Congenital Bilateral Retinoblastoma. ( 29344496 )
2017
8
A long follow-up of a patient with bilateral retinoblastoma who underwent globe-preserving therapy and had metastasis after 72mo. ( 29062787 )
2017
9
Related visual impairment to mother-infant interaction and development in infants with bilateral retinoblastoma. ( 28478852 )
2017
10
Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement. ( 27815188 )
2016
11
Simultaneous Bilateral Ophthalmic Artery Chemosurgery for Bilateral Retinoblastoma (Tandem Therapy). ( 27258771 )
2016
12
Urinary bladder leiomyosarcoma following radiotherapy in a patient with bilateral retinoblastoma: A case report. ( 26604453 )
2015
13
Very late relapse of bilateral retinoblastoma. ( 25757022 )
2015
14
Intra-arterial chemotherapy for bilateral retinoblastoma via left ophthalmic artery and right anterior deep temporal artery. ( 25240013 )
2014
15
Papillary cystadenocarcinoma of the lacrimal gland after radiation for bilateral retinoblastoma. ( 24807542 )
2014
16
Diagnostic delay and sociodemographic predictors of stage at diagnosis and mortality in unilateral and bilateral retinoblastoma. ( 24521997 )
2014
17
Treatment outcome of osteosarcoma after bilateral retinoblastoma: a retrospective study of eight cases. ( 24795337 )
2014
18
Bilateral retinoblastoma in early infancy. ( 23584660 )
2013
19
How long is the interval of onsets of bilateral retinoblastoma? ( 24392346 )
2013
20
Efficacy of vincristine and carboplatin as chemo-reduction for advanced bilateral retinoblastoma, the Saudi experience. ( 24227985 )
2013
21
Long-term outcomes of Group D eyes in bilateral retinoblastoma patients treated with chemoreduction and low-dose IMRT salvage. ( 22997170 )
2013
22
Bilateral retinoblastoma: clinical presentation, management and treatment. ( 23277210 )
2013
23
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. ( 22963398 )
2013
24
A case-control study of paternal occupational exposures and the risk of childhood sporadic bilateral retinoblastoma. ( 23503471 )
2013
25
Post-chemoreduction cryptic optic nerve relapse in a patient with bilateral retinoblastoma. ( 23172878 )
2013
26
Pilomatrixoma in a patient with bilateral retinoblastoma. ( 23313048 )
2013
27
A case of bilateral retinoblastoma with a novel mutation presenting at retinopathy of prematurity screening. ( 22729126 )
2012
28
Osteosarcoma as a second malignant disease in a case of bilateral retinoblastoma. ( 22754860 )
2011
29
"Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? ( 21041048 )
2011
30
Bilateral retinoblastoma presenting as metastases to forearm bones four years after the initial treatment. ( 22174523 )
2011
31
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. ( 20728296 )
2011
32
Intensity modulated radiotherapy (IMRT) in bilateral retinoblastoma. ( 22933915 )
2010
33
Bilateral superselective ophthalmic artery chemotherapy for bilateral retinoblastoma: tandem therapy. ( 20212212 )
2010
34
Retinocytoma associated with bilateral retinoblastoma. ( 20195043 )
2010
35
Bilateral retinoblastoma presenting at retinopathy of prematurity screening. ( 20576664 )
2010
36
A case of bilateral retinoblastoma with left orbital cellulitis. ( 19321854 )
2009
37
Analysis of ototoxicity in young children receiving carboplatin in the context of conservative management of unilateral or bilateral retinoblastoma. ( 19148943 )
2009
38
Salvage external beam radiotherapy after failed primary chemotherapy for bilateral retinoblastoma: rate of eye and vision preservation. ( 19329423 )
2009
39
Bilateral Retinoblastoma Presenting with Unilateral Phthisis. ( 19928701 )
2009
40
Leiomyosarcoma of the urinary bladder in a patient with bilateral retinoblastoma. ( 18489647 )
2008
41
Bilateral retinoblastoma in early infancy: a case report. ( 18604094 )
2007
42
Murine bilateral retinoblastoma exhibiting rapid-onset, metastatic progression and N-myc gene amplification. ( 17235288 )
2007
43
Pleomorphic adenoma of the lacrimal gland in an 18-year-old girl irradiated for bilateral retinoblastoma. ( 16527777 )
2006
44
Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma? ( 16003734 )
2006
45
Leiomyosarcoma of the bladder in a 16-year-old girl with a history of cyclophosphamide therapy for bilateral retinoblastoma during infancy. ( 16598333 )
2006
46
Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India. ( 16225399 )
2005
47
Loss of 10p material in a child with human papillomavirus-positive disseminated bilateral retinoblastoma. ( 16102585 )
2005
48
Second primary myogenic sarcoma in a patient with bilateral retinoblastoma. ( 15552818 )
2004
49
Interstitial deletion of 13q and a 13;X chromosome translocation results in partial trisomy 13 and bilateral retinoblastoma. ( 12868036 )
2003
50
Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma. ( 12794701 )
2003
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Variations for Bilateral Retinoblastoma

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Expression for Bilateral Retinoblastoma

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Search GEO for disease gene expression data for Bilateral Retinoblastoma.
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Pathways for Bilateral Retinoblastoma

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

# Super pathways Score Top Affiliating Genes
1
E2F transcription factor network 1
11.02 RB1 RBL1
2
Macrophage Differentiation and Growth Inhibition by METS 64
Show member pathways
 10.67 RB1 RBL1
3
ID signaling pathway 1
9.83 RB1 RBL1
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GO Terms for Bilateral Retinoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 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 kinase binding GO:0019900 9.16 MYCN RB1
2 RNA polymerase II activating transcription factor binding GO:0001102 8.96 RB1 RBL1
3 RNA polymerase II regulatory region DNA binding GO:0001012 8.62 RB1 RBL1
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Sources for Bilateral Retinoblastoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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