MCID: RTN024
MIFTS: 76

Retinoblastoma

Categories: Genetic diseases, Rare diseases, Cancer diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Name: Retinoblastoma 53 12 72 23 49 24 55 36 28 13 51 14 69
Rb 53 12 49 24 71
Trilateral Retinoblastoma 12 14 69
Retinoblastoma, Trilateral 53 28
Childhood Cancer Retinoblastoma 71
Malignant Neoplasm of Retina 69
Eye Cancer, Retinoblastoma 49
Neuroblastoma of Retina 12
Rb - Retinoblastoma 12
Retinal Neoplasms 69
Glioma, Retinal 24
Retinal Cancer 49
Retinal Tumor 49
Rb1 53

Characteristics:

Orphanet epidemiological data:

55
retinoblastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Europe),1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy; Age of death: any age;

OMIM:

53
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
incidence 1 in 15,000-28,000 births
approximately 40% of cases are inherited or new germline mutations
approximately 60% of cases are due to somatic mutations and are unilateral


HPO:

31

GeneReviews:

23
Penetrance See genotype-phenotype correlations...

Classifications:

Orphanet: 55  
Rare eye diseases


Summaries for Retinoblastoma

NIH Rare Diseases : 49 Retinoblastoma (RB) is a rare type of eye cancer in the retina that typically develops before the age of 5. It usually affects only one eye, but 1/3 of children with RB develop cancer in both eyes. The first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. Other signs and symptoms include strabismus; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is caused by mutations in the RB1 gene. In about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. In the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. Retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. Hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). Retinoblastoma that occurs in only one eye is usually not inherited. Retinoblastoma that occurs in both eyes is thought to be inherited. Last updated: 4/4/2012

MalaCards based summary : Retinoblastoma, also known as rb, is related to unilateral retinoblastoma and bilateral retinoblastoma, and has symptoms including cleft palate, lymphoma and osteosarcoma. An important gene associated with Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are Cell cycle and ERK Signaling. The drugs Ibrance and Tasigna have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and lung, and related phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and growth/size/body region

OMIM : 53 Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000). (180200)

UniProtKB/Swiss-Prot : 71 Childhood cancer retinoblastoma: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated.

Genetics Home Reference : 24 Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.

Disease Ontology : 12 A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives from the tissues of the retina.

Wikipedia : 72 Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,... more...

GeneReviews: NBK1452

Related Diseases for Retinoblastoma

Diseases in the Retinoblastoma family:

Familial Retinoblastoma

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

(show top 50) (show all 275)
# Related Disease Score Top Affiliating Genes
1 unilateral retinoblastoma 34.2 RB1 RBL1
2 bilateral retinoblastoma 33.7 RB1 RBL1
3 ocular cancer 30.4 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
4 glioblastoma 30.3 CCND1 CDK4 MDM2 RB1
5 bladder cancer 30.1 CCND1 CDK4 E2F1 E2F3 MDM2 RB1
6 spindle cell lipoma 30.0 CDK4 MDM2 RB1
7 hepatocellular carcinoma 29.9 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
8 liposarcoma 29.9 CDK4 MDM2 RB1
9 osteogenic sarcoma 29.8 CDK4 MDM2 RB1 RBL2
10 myeloma, multiple 29.7 CCND1 CCND3 CDK4
11 mantle cell lymphoma 29.3 CCND1 CCND3 CDK4 MDM2
12 retinal cancer 27.6 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
13 intraocular retinoblastoma 12.3
14 extraocular retinoblastoma 12.3
15 familial retinoblastoma 12.2
16 pediatric intraocular retinoblastoma 12.1
17 pediatric extraocular retinoblastoma 12.1
18 non-hereditary retinoblastoma 12.0
19 imprinting gene related to retinoblastoma 11.8
20 roberts syndrome 11.7
21 respiratory bronchiolitis-interstitial lung disease syndrome 11.2
22 chromosome 13q14 deletion syndrome 11.2
23 blastoma 11.2
24 sc phocomelia syndrome 10.9
25 norrie disease 10.9
26 autism 3 10.9
27 retinal disease 10.9
28 ring chromosome 7 10.6 CDK4 MDM2
29 undifferentiated embryonal sarcoma of the liver 10.5 CDK4 MDM2
30 periosteal chondrosarcoma 10.5 CDK4 MDM2 RB1
31 infiltrating angiolipoma 10.5 CDK4 MDM2
32 ischemic fasciitis 10.5 CCND1 CDK4 MDM2
33 extraosseous osteosarcoma 10.5 CDK4 MDM2
34 inflammatory mfh 10.4 CDK4 MDM2
35 diffuse large b-cell lymphoma 10.4 CCND1 CDK4 MDM2
36 bone osteosarcoma 10.4 CDK4 MDM2
37 lipoblastoma 10.3 CDK4 MDM2
38 retinitis 10.2
39 gliosarcoma 10.2 CCND3 CDK4 RB1
40 neuronitis 10.2
41 prostatitis 10.2
42 lung cancer 10.2
43 squamous cell carcinoma 10.2
44 melanoma 10.2
45 aging 10.1
46 leukemia 10.1
47 sarcoma 10.1
48 lymphoma 10.1
49 glioblastoma multiforme 10.1 CCND1 CDK4 E2F1 E2F4 MDM2 RB1
50 breast cancer 10.1

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to Retinoblastoma

Symptoms & Phenotypes for Retinoblastoma

Symptoms via clinical synopsis from OMIM:

53
Neoplasia:
lymphoma
leukemia
osteogenic sarcoma
pinealoma (trilateral retinoblastoma)
ewing sarcoma

HeadAndNeckMouth:
cleft palate (rare)

HeadAndNeckEyes:
leukocoria
retinal calcification
retinoblastoma (25% bilateral, 15% unilateral)
retinomas (translucent, grayish retinal mass protruding into the vitreous)
retinal pigment epithelial migration and proliferation
more

Clinical features from OMIM:

180200

Human phenotypes related to Retinoblastoma:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinoblastoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0009919
2 cleft palate 31 HP:0000175
3 lymphoma 31 HP:0002665
4 osteosarcoma 31 HP:0002669
5 leukocoria 31 HP:0000555
6 leukemia 31 HP:0001909
7 pinealoma 31 HP:0010799
8 vitritis 31 occasional (7.5%) HP:0011531
9 vitreous hemorrhage 31 HP:0007902
10 retinal calcification 31 HP:0007862
11 ewing's sarcoma 31 HP:0012254

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.92 CCND1 E2F3 RBBP4 RBL1

MGI Mouse Phenotypes related to Retinoblastoma:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 CCND3 ARID4A CDK4 CCND1 E2F3 E2F1
2 cellular MP:0005384 10.35 CDK4 CCND1 ARID4A E2F2 E2F4 E2F3
3 mortality/aging MP:0010768 10.34 DDX1 E2F1 CCND3 ARID4A CDK4 CCND1
4 cardiovascular system MP:0005385 10.32 CCND1 CCND3 ARID4A CDK4 E2F3 E2F1
5 endocrine/exocrine gland MP:0005379 10.3 CCND3 ARID4A CDK4 CCND1 E2F3 MDM2
6 embryo MP:0005380 10.28 CDK4 E2F3 E2F1 E2F4 MDM2 RBBP7
7 immune system MP:0005387 10.27 CCND1 CCND3 ARID4A CDK4 E2F3 E2F1
8 integument MP:0010771 10.22 ARID4A CDK4 CCND1 E2F3 E2F1 E2F4
9 neoplasm MP:0002006 10.22 E2F1 CCND3 ARID4A CDK4 CCND1 MDM2
10 digestive/alimentary MP:0005381 10.15 CDK4 CCND1 E2F4 E2F3 E2F1 RB1
11 normal MP:0002873 10.11 CCND3 CDK4 CCND1 E2F3 E2F1 E2F4
12 craniofacial MP:0005382 10.1 CCND1 E2F4 RB1 RBBP7 MDM2 RBL1
13 liver/biliary system MP:0005370 10 CDK4 CCND3 ARID4A E2F2 RB1 MDM2
14 reproductive system MP:0005389 9.96 CCND1 ARID4A CDK4 E2F3 E2F1 E2F4
15 renal/urinary system MP:0005367 9.87 CDK4 ARID4A E2F2 RB1 MDM2 RBL1
16 respiratory system MP:0005388 9.85 CCND3 ARID4A CCND1 E2F3 E2F1 E2F4
17 skeleton MP:0005390 9.65 CCND1 ARID4A E2F4 E2F3 E2F1 RBL1
18 vision/eye MP:0005391 9.28 CDK4 CCND1 CCND3 E2F2 E2F3 E2F1

Drugs & Therapeutics for Retinoblastoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Ibrance 17 45 PALBOCICLIB Pfizer February 2015
2
Tasigna 17 45 NILOTINIB HYDROCHLORIDE MONOHYDRATE Novartis October 2007
3
Kalydeco 17 IVACAFTOR Vertex Pharmaceuticals January of 2012

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

(show top 50) (show all 152)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
2
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
3
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2 2068-78-2, 57-22-7 5978
4
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
6
Curcumin Approved, Investigational Phase 4 458-37-7 969516
7
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
8
Nicotine Approved Phase 4 54-11-5 89594 942
9
Ginseng Approved, Investigational, Nutraceutical Phase 4,Phase 2 50647-08-0
10
Allantoin Approved, Nutraceutical Phase 4 97-59-6 204
11 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1
13 Etoposide phosphate Phase 4,Phase 3,Phase 2,Phase 1
14 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Antifungal Agents Phase 4,Phase 2,Phase 1
17 Cytochrome P-450 CYP3A Inhibitors Phase 4
18 Cytochrome P-450 Enzyme Inhibitors Phase 4
19 Hormone Antagonists Phase 4,Phase 2,Phase 1
20 Hormones Phase 4,Phase 2,Phase 1
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1
22 Hydroxyitraconazole Phase 4
23 Steroid Synthesis Inhibitors Phase 4,Phase 1,Phase 2
24 Bone Density Conservation Agents Phase 4,Phase 2
25 Diphosphonates Phase 4
26 Ibandronic acid Phase 4
27 Liver Extracts Phase 4,Phase 2,Phase 1
28 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1
29
Iodine Approved, Investigational Phase 3,Phase 2,Phase 1 7553-56-2 807
30
Cisplatin Approved Phase 3,Phase 2 15663-27-1 2767 441203 84093
31
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
32 Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1 52-24-4 5453
33
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
34
Mesna Approved, Investigational Phase 3,Phase 2,Phase 1 3375-50-6 598
35
Topotecan Approved, Investigational Phase 3,Phase 1,Phase 2 119413-54-6, 123948-87-8 60700
36
Doxil Approved June 1999 Phase 3,Phase 2 31703
37 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
38 Anti-Infective Agents, Local Phase 3,Phase 2
39 cadexomer iodine Phase 3,Phase 2,Phase 1
40 Micronutrients Phase 3,Phase 2
41 Trace Elements Phase 3,Phase 2
42 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
43 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
44 Anesthetics Phase 3,Phase 2,Early Phase 1
45 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1
46 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
47 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1
48
Ranibizumab Approved Phase 2,Phase 1 347396-82-1 459903
49
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
50
Palbociclib Approved, Investigational Phase 2,Phase 1 571190-30-2 5330286 11431660 5005498

Interventional clinical trials:

(show top 50) (show all 123)

# Name Status NCT ID Phase Drugs
1 CEV With/Without Periocular Carboplatin Chemotherapy for Extraocular Retinoblastoma Completed NCT02319486 Phase 4 carboplatin periocular injection;CEV chemotherapy
2 Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation Completed NCT00336531 Phase 4 itraconazole
3 Prospective Study of Profile of Hepatic Osteodystrophy in Patients With Non-Choleastatic Liver Cirrhosis and Impact of Bisphosphonate Supplementation Completed NCT02249741 Phase 4 Treated with Ibandronic acid as per protocol
4 The Efficacy and Safety of New Herbal Formula (KBMSI-2) in the Treatment of Erectile Dysfunction Completed NCT02413099 Phase 4 KBMSI-2
5 Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study Completed NCT02204826 Phase 4 Korean Red Ginseng (KRG)
6 G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor Not yet recruiting NCT02933333 Phase 4
7 Carboplatin Periocular Injection for Retinoblastoma Unknown status NCT02137928 Phase 3 carboplatin periocular injection;chemotherapy
8 Does Posterior Reconstruction of the Rhabdosphincter Improve Early Recovery of Continence After Robotic-Assisted Radical Prostatectomy? Unknown status NCT01809522 Phase 3
9 Systemic Vincristine, Carboplatin, and Etoposide, Subtenon Carboplatin, and Local Ophthalmic Therapy in Treating Children With Intraocular Retinoblastoma Completed NCT00072384 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
10 Neoadjuvant Carboplatin and Vincristine and Standard Local Ophthalmic Therapy in Treating Patients With Intraocular Retinoblastoma Completed NCT00079417 Phase 3 carboplatin;vincristine sulfate
11 Vincristine, Carboplatin, and Etoposide or Observation Only in Treating Patients Who Have Undergone Surgery for Newly Diagnosed Retinoblastoma Completed NCT00335738 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
12 Adjuvant Chemotherapy for High-risk Retinoblastoma After Enucleation Recruiting NCT01906814 Phase 3 3 cycles chemotherapy;6 cycles chemotherapy
13 Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3 cisplatin;cyclophosphamide;etoposide;carboplatin;vincristine sulfate;thiotepa
14 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
15 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
16 Efficacy Study of Lucentis in the Treatment of Retinoblastoma Unknown status NCT01899066 Phase 2 Lucentis, chemotherapy;chemotherapy
17 Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2 Carboplatin;VP-16
18 Efficacy and Safety of Fufangdanshen Tablets in Mild to Moderate Vascular Dementia Unknown status NCT01761227 Phase 2 Fufangdanshen Tablets;Placebo
19 Chemotherapy in Treating Patients With Retinoblastoma Completed NCT00002675 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
20 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
21 Carboplatin Plus Vincristine in Treating Children With Retinoblastoma Completed NCT00002794 Phase 2 carboplatin;vincristine sulfate
22 Combination Chemotherapy, Radiation Therapy, and Bone Marrow Transplantation in Treating Patients With Retinoblastoma Completed NCT00004006 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
23 Cyclin Dependent Kinase (CDK)4/6 Inhibitor, PD0332991 in Advanced Non-small Cell Lung Cancer NSCLC. Completed NCT01291017 Phase 2 PD0332991
24 A Trial to Assess the Activity and Safety of Palbociclib in Patients With Well and Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors (pNET) Completed NCT02806648 Phase 2 Palbociclib
25 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2 becatecarin
26 High-Dose Thiotepa Plus Peripheral Stem Cell Transplantation in Treating Patients With Refractory Solid Tumors Completed NCT00003173 Phase 2 thiotepa
27 Arsenic Trioxide in Treating Patients With Advanced Neuroblastoma or Other Childhood Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
28 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
29 Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
30 An Investigational Drug, Palbociclib (PD-0332991), Is Being Studied In Combination With Velcade And Dexamethasone In Patients With Multiple Myeloma. Patients Must Have Received Prior Treatment For Multiple Myeloma. Completed NCT00555906 Phase 2 Bortezomib;Dexamethasone;PD 0332991
31 Metformin Hydrochloride in Treating Patients With Prostate Cancer Undergoing Surgery Completed NCT01433913 Phase 2 metformin hydrochloride
32 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
33 Intra-arterial Chemotherapy for Children With Retinoblastoma Recruiting NCT00906113 Phase 1, Phase 2 Intra-arterial injection of melphalan;Injection of melphalan into the ophthalmic artery
34 Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated (RB SFCE 2009) Recruiting NCT02870907 Phase 2 Etoposide;Vincristine;Carboplatin;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Carboplatin;Thiotepa;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Thiotepa
35 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
36 Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
37 Anastrozole, Palbociclib, Trastuzumab and Pertuzumab in Her-positive, Her2-positive Metastatic Breast Recruiting NCT03304080 Phase 1, Phase 2 Anastrozole;Palbociclib;Trastuzumab;Pertuzumab
38 Enzalutamide With and Without Ribociclib for Metastatic, Castrate-Resistant, Chemotherapy-Naive Prostate Cancer That Retains RB Expression Recruiting NCT02555189 Phase 1, Phase 2 Enzalutamide;Ribociclib
39 Palbociclib With Cetuximab and IMRT for Locally Advanced Squamous Cell Carcinoma Recruiting NCT03024489 Phase 1, Phase 2 Palbociclib;Palbociclib;Palbociclib;Palbociclib;Cetuximab
40 Molecular Mechanisms of Resistance and Sensitivity to Palbociclib Re-challenge in ER+ mBC Recruiting NCT03184090 Phase 2 Palbociclib;Endocrine therapy (non IMP)
41 The Purpose of This Study is to Test Any Good and Bad Effects of a Study Drug Called Abemaciclib (LY2835219) in Patients With Recurrent Brain Tumors. Recruiting NCT03220646 Phase 2 abemaciclib;abemaciclib
42 PErsonalized TREatment of High-risk MAmmary Cancer - the PETREMAC Trial Recruiting NCT02624973 Phase 2 Neoadjuvant tamoxifen + goserelin (premenopausal women);Neoadjuvant letrozole (postmenopausal women);Neoadjuvant endocrine therapy + palbociclib (if lack of response to endocrine therapy alone);Neoadjuvant docetaxel + cyclophosphamide;Neoadjuvant docetaxel;Neoadjuvant docetaxel + trastuzumab + pertuzumab;Neoadjuvant docetaxel + cyclophosphamide + trastuzumab + pertuzumab;Neoadjuvant olaparib;Neoadjuvant cyclophosphamide (after 10 weeks of olaparib alone);Adjuvant trastuzumab;Adjuvant letrozole (postmenopausal women);Adjuvant tamoxifen + goserelin (premenopausal women);Adjuvant palbociclib (if palbociclib given neoadjuvant);Adjuvant Epirubicin+ Cyclophosphamide
43 Trial of Topotecan With VX-970, an ATR Kinase Inhibitor, in Small Cell Cancers Recruiting NCT02487095 Phase 1, Phase 2 Topotecan;VX-970
44 Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma Active, not recruiting NCT00110110 Phase 2 Carboplatin;Cyclosporine;Etoposide;vincristine sulfate
45 A Phase II Study of Androgen Deprivation Therapy With or Without Palbociclib in RB-Positive Metastatic Prostate Cancer Active, not recruiting NCT02059213 Phase 2 Ibrance;Bicalutamide;Zoladex;Lupron Depot
46 A Phase I/II Study of Ribociclib,a CDK4/6 Inhibitor, Following Radiation Therapy Active, not recruiting NCT02607124 Phase 1, Phase 2 Ribociclib
47 Efficacy and Safety of PD-0332991 in Patients With Advanced Gastrointestinal Stromal Tumors Refractory to Imatinib and Sunitinib Active, not recruiting NCT01907607 Phase 2 PD-0332991 will be administrated orally, formulated as gelatin capsules of 100 mg and 25 mg respectively.
48 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
49 Study Of Letrozole With Or Without Palbociclib (PD-0332991) For The First-Line Treatment Of Hormone-Receptor Positive Advanced Breast Cancer Active, not recruiting NCT00721409 Phase 2 PD 0332991;letrozole;letrozole
50 A Study Of Oral Palbociclib (PD-0332991), A CDK4/6 Inhibitor, As Single Agent In Japanese Patients With Advanced Solid Tumors Or In Combination With Letrozole For The First-Line Treatment Of Postmenopausal Japanese Patients With ER (+) HER2 (-) Advanced B Active, not recruiting NCT01684215 Phase 2 PD-0332991;PD-0332991;letrozole;PD-0332991;letrozole

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

# Genetic test Affiliating Genes
1 Retinoblastoma, Trilateral 28
2 Retinoblastoma 28 RB1

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

38
Retina, Eye, Lung, Prostate, Bone, Testes, Pineal

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 2559)
# Title Authors Year
1
Downregulation of NIMA-related kinase-7 inhibits cell proliferation by inducing cell cycle arrest in human retinoblastoma cells. ( 29434721 )
2018
2
Pars Plana Vitrectomy and Endoresection of Refractory Intraocular Retinoblastoma. ( 29153457 )
2018
3
Improved procedural safety following protocol changes for selective ophthalmic arterial infusion of chemotherapy for treatment of ocular retinoblastoma. ( 29436917 )
2018
4
MicroRNA-655 attenuates the malignant biological behaviours of retinoblastoma cells by directly targeting PAX6 and suppressing the ERK and p38A MAPK signalling pathways. ( 29436689 )
2018
5
Leucine-Rich I+-2-Glycoprotein-1 (LRG-1) Expression in Retinoblastoma. ( 29392314 )
2018
6
A Laser-Activated Multifunctional Targeted Nanoagent for Imaging and Gene Therapy in a Mouse Xenograft Model with Retinoblastoma Y79 Cells. ( 29452275 )
2018
7
Teaching NeuroImages: A diffuse infiltrating retinoblastoma. ( 29358521 )
2018
8
Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents. ( 29379195 )
2018
9
Pharmacokinetics, Tissue Localization, Toxicity, and Treatment Efficacy in the First Small Animal (Rabbit) Model of Intra-Arterial Chemotherapy for Retinoblastoma. ( 29368001 )
2018
10
Screening Children at Risk for Retinoblastoma. ( 29378897 )
2018
11
Insulin receptor substrate-4 is overexpressed in colorectal cancer and promotes retinoblastoma-cyclin-dependent kinase activation. ( 29353348 )
2018
12
SYK-targeted dendritic cell-mediated cytotoxic T lymphocytes enhance the effect of immunotherapy on retinoblastoma. ( 29372378 )
2018
13
Clinical and genetic associations for carboplatin-related ototoxicity in children treated for retinoblastoma: A retrospective noncomparative single-institute experience. ( 29350448 )
2018
14
Short linear motif core and flanking regions modulate retinoblastoma protein binding affinity and specificity. ( 29370437 )
2018
15
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? ( 29336617 )
2018
16
HAND-HELD OPTICAL COHERENCE TOMOGRAPHY MONITORING OF CHEMORESISTANT RETINOBLASTOMA. ( 29443806 )
2018
17
OCT-guided management of subclinical recurrent retinoblastoma. ( 29424610 )
2018
18
UHRF1 depletion sensitizes retinoblastoma cells to chemotherapeutic drugs via downregulation of XRCC4. ( 29415984 )
2018
19
Comment: Intra-arterial chemotherapy for retinoblastoma. ( 28905848 )
2017
20
Concomitant Intraocular Retinoblastoma and Choroidal Hemangioma in a 1-Year-Old Boy. ( 28984344 )
2017
21
Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome. ( 28348883 )
2017
22
Functional dissection of the role of UHRF1 in the regulation of retinoblastoma methylome. ( 28467809 )
2017
23
Ocular oncology: advances in retinoblastoma, uveal melanoma and conjunctival melanoma. ( 28069617 )
2017
24
Retinoblastoma cells activate the AKT pathway and are vulnerable to the PI3K/mTOR inhibitor NVP-BEZ235. ( 28445155 )
2017
25
Intersection of retinoblastoma tumor suppressor function, stem cells, metabolism, and inflammation. ( 28865172 )
2017
26
HIGH-RISK INTRAOCULAR RETINOBLASTOMA: Comparison Between Asian Indians and Americans From Two Major Referral Centers. ( 28834944 )
2017
27
MDM2 but not MDM4 promotes retinoblastoma cell proliferation through p53-independent regulation of MYCN translation. ( 27748758 )
2017
28
A multidisciplinary approach to improving the care and outcomes of patients with retinoblastoma at a pediatric cancer hospital in Egypt. ( 28085527 )
2017
29
Feasibility of RetinoQuest: e-health application to facilitate and improve additional care for retinoblastoma survivors. ( 28948437 )
2017
30
Vitreous Disease in Retinoblastoma: Clinical Findings and Treatment. ( 29034355 )
2017
31
Evolution of Chemotherapy Approaches for the Treatment of Intraocular Retinoblastoma: A Comprehensive Review. ( 27898618 )
2017
32
Efficacy and Toxicity of Intravitreous Chemotherapy for Retinoblastoma: Four-Year Experience. ( 28089679 )
2017
33
Long non-coding RNA CCAT1 promotes human retinoblastoma SO-RB50 and Y79 cells through negative regulation of miR-218-5p. ( 28088735 )
2017
34
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )
2017
35
Correction: Ablating all three retinoblastoma family members in mouse lung leads to neuroendocrine tumor formation. ( 28772359 )
2017
36
Aberrant promoter hypermethylation of p16, survivin, and retinoblastoma in gastric cancer. ( 28319413 )
2017
37
Tetramethylpyrazine-mediated regulation of CXCR4 in retinoblastoma is sensitive to cell density. ( 28447713 )
2017
38
The Effect of Ophthalmic Artery Chemosurgery on Immune Function in Retinoblastoma Patients: A Single Institution Retrospective Analysis. ( 28906322 )
2017
39
Blockade of sonic hedgehog signaling decreases viability and induces apoptosis in retinoblastoma cells: The key role of the PI3K/Akt pathway. ( 28943916 )
2017
40
Mature Ovarian Teratoma After Treatment for Unilateral Retinoblastoma With Nonmutated RB1. ( 28719514 )
2017
41
Evaluation of high-risk features of primary enucleation of patients with retinoblastoma in a tertiary center of a developing country in the era of intra-arterial chemotherapy. ( 28058667 )
2017
42
Quercetin inhibits angiogenesis-mediated human retinoblastoma growth by targeting vascular endothelial growth factor receptor. ( 28927086 )
2017
43
MiR-613 suppresses retinoblastoma cell proliferation, invasion, and tumor formation by targeting E2F5. ( 28351331 )
2017
44
Analysis of aqueous humor concentrations of cytokines in retinoblastoma. ( 28486560 )
2017
45
Overexpression of pyruvate dehydrogenase kinase 1 in retinoblastoma: A potential therapeutic opportunity for targeting vitreous seeds and hypoxic regions. ( 28505181 )
2017
46
Misidentified Human Gene Functions with Mouse Models: The Case of the Retinoblastoma Gene Family in Senescence. ( 28865301 )
2017
47
Inhibition of E2F1 activity and cell cycle progression by arsenic via retinoblastoma protein. ( 28880708 )
2017
48
Systematic review of the current status of programs and general knowledge of diagnosis and management of retinoblastoma. ( 29364813 )
2017
49
Anisometric cell lipoma: Insight from a case series and review of the literature on adipocytic neoplasms in survivors of retinoblastoma suggest a role for RB1 loss and possible relationship to fat-predominant ("fat-only") spindle cell lipoma. ( 28807343 )
2017
50
PIWI-like protein, HIWI2 is aberrantly expressed in retinoblastoma cells and affects cell-cycle potentially through OTX2. ( 28861107 )
2017

Variations for Retinoblastoma

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

71 (show all 22)
# Symbol AA change Variation ID SNP ID
1 RB1 p.Glu72Gln VAR_005572
2 RB1 p.Glu137Asp VAR_005573 rs3092902
3 RB1 p.Ile185Thr VAR_005574
4 RB1 p.Arg358Gln VAR_005575 rs767011440
5 RB1 p.Met457Arg VAR_005576
6 RB1 p.His549Tyr VAR_005578 rs1050717570Childhood
7 RB1 p.Ser567Leu VAR_005579 rs137853292
8 RB1 p.Ala635Pro VAR_005580
9 RB1 p.Val654Glu VAR_005581
10 RB1 p.Arg661Trp VAR_005582 rs137853294
11 RB1 p.Leu662Pro VAR_005583
12 RB1 p.His673Pro VAR_005584
13 RB1 p.Gln685Pro VAR_005585
14 RB1 p.Cys706Tyr VAR_005586
15 RB1 p.Cys712Arg VAR_005587 rs137853296
16 RB1 p.Asn803Lys VAR_005588
17 RB1 p.Arg358Gly VAR_010046
18 RB1 p.Lys447Gln VAR_010048
19 RB1 p.Lys530Arg VAR_010049
20 RB1 p.Leu657Pro VAR_010050
21 RB1 p.Arg500Gly VAR_011580
22 RB1 p.Lys616Glu VAR_011581

ClinVar genetic disease variations for Retinoblastoma:

6 (show top 50) (show all 126)
# Gene Variation Type Significance SNP ID Assembly Location
1 RB1 NM_000321.2(RB1): c.2520+1delG deletion Pathogenic rs587776779 GRCh37 Chromosome 13, 49047527: 49047527
2 RB1 NM_000321.2(RB1): c.1960+2T> C single nucleotide variant Pathogenic rs587776780 GRCh37 Chromosome 13, 49030487: 49030487
3 RB1 NM_000321.2(RB1): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs3092891 GRCh37 Chromosome 13, 48953730: 48953730
4 RB1 NM_000321.2(RB1): c.1700C> T (p.Ser567Leu) single nucleotide variant Pathogenic rs137853292 GRCh37 Chromosome 13, 49027133: 49027133
5 RB1 NM_000321.2(RB1): c.2359C> T (p.Arg787Ter) single nucleotide variant Pathogenic rs137853293 GRCh37 Chromosome 13, 49039374: 49039374
6 RB1 NM_000321.2(RB1): c.2244delG (p.Glu748Aspfs) deletion Pathogenic rs587776781 GRCh37 Chromosome 13, 49039166: 49039166
7 RB1 NM_000321.2(RB1): c.1049+1G> T single nucleotide variant Pathogenic rs587776782 GRCh37 Chromosome 13, 48941740: 48941740
8 RB1 NM_000321.2(RB1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913301 GRCh37 Chromosome 13, 48942685: 48942685
9 RB1 RB1, 5-BP DEL, EX8 deletion Pathogenic
10 RB1 NM_000321.2(RB1): c.979_1033dup55 (p.Thr345Lysfs) duplication Pathogenic GRCh37 Chromosome 13, 48941669: 48941723
11 RB1 NM_000321.2(RB1): c.1760_1769delAATCTGCTTG (p.Glu587Valfs) deletion Pathogenic rs587776784 GRCh37 Chromosome 13, 49027193: 49027202
12 RB1 NM_000321.2(RB1): c.1949_1957delTTTATAAAA (p.Phe650_Lys928del) deletion Pathogenic rs587776785 GRCh37 Chromosome 13, 49030474: 49030482
13 RB1 NM_000321.2(RB1): c.2212-1G> A single nucleotide variant Pathogenic rs587776786 GRCh37 Chromosome 13, 49039133: 49039133
14 RB1 NM_000321.2(RB1): c.-189G> T single nucleotide variant Pathogenic rs387906520 GRCh37 Chromosome 13, 48877860: 48877860
15 RB1 NM_000321.2(RB1): c.-198G> A single nucleotide variant Pathogenic rs387906521 GRCh37 Chromosome 13, 48877851: 48877851
16 RB1 NM_000321.2(RB1): c.1981C> T (p.Arg661Trp) single nucleotide variant Pathogenic/Likely pathogenic rs137853294 GRCh37 Chromosome 13, 49033844: 49033844
17 RB1 RB1, GLN675TER single nucleotide variant Pathogenic
18 RB1 NM_000321.2(RB1): c.2211G> A (p.Glu737=) single nucleotide variant Pathogenic rs587776787 GRCh37 Chromosome 13, 49037971: 49037971
19 RB1 NM_000321.2(RB1): c.1666C> T (p.Arg556Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913304 GRCh37 Chromosome 13, 48955550: 48955550
20 RB1 NM_000321.2(RB1): c.1439_1441delACA (p.Asn480del) deletion Pathogenic rs587776788 GRCh37 Chromosome 13, 48954318: 48954320
21 RB1 NM_000321.2(RB1): c.2134T> C (p.Cys712Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137853296 GRCh37 Chromosome 13, 49037894: 49037894
22 RB1 NM_000321.2(RB1): c.607+1G> T single nucleotide variant Pathogenic rs587776789 GRCh37 Chromosome 13, 48923160: 48923160
23 RB1 NM_000321.2(RB1): c.1818T> A (p.Tyr606Ter) single nucleotide variant Pathogenic rs137853297 GRCh37 Chromosome 13, 49030343: 49030343
24 RB1 NM_000321.2(RB1): c.43_65dup23 (p.Pro23Leufs) duplication Pathogenic rs587776790 GRCh37 Chromosome 13, 48878091: 48878113
25 RB1 NM_000321.2(RB1): c.2490-1398A> G single nucleotide variant Pathogenic rs587776791 GRCh37 Chromosome 13, 49046098: 49046098
26 RB1 NM_000321.2(RB1): c.1927A> G (p.Lys643Glu) single nucleotide variant Pathogenic rs587778866 GRCh37 Chromosome 13, 49030452: 49030452
27 RB1 NM_000321.2(RB1): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs398123331 GRCh37 Chromosome 13, 48954198: 48954198
28 RB1 NM_000321.2(RB1): c.1585dupT (p.Tyr529Leufs) duplication Pathogenic rs398123332 GRCh37 Chromosome 13, 48955469: 48955469
29 RB1 NM_000321.2(RB1): c.2067_2079delGAATGAGTATGAAinsCAC (p.Gln689Hisfs) indel Pathogenic rs398123333 GRCh37 Chromosome 13, 49033930: 49033942
30 RB1 NM_000321.2(RB1): c.1927A> G (p.Lys643Glu) single nucleotide variant Pathogenic rs587778866 GRCh38 Chromosome 13, 48456316: 48456316
31 RB1 NM_000321.2(RB1): c.1960+5G> A single nucleotide variant Pathogenic rs587778871 GRCh37 Chromosome 13, 49030490: 49030490
32 RB1 NM_000321.2(RB1): c.1961-2A> T single nucleotide variant Pathogenic rs587778867 GRCh37 Chromosome 13, 49033822: 49033822
33 RB1 NM_000321.2(RB1): c.1973C> A (p.Ala658Asp) single nucleotide variant Pathogenic rs587778834 GRCh37 Chromosome 13, 49033836: 49033836
34 RB1 NM_000321.2(RB1): c.1738G> T (p.Glu580Ter) single nucleotide variant Pathogenic rs587778858 GRCh38 Chromosome 13, 48453035: 48453035
35 RB1 NG_009009.1: g.154289dupA duplication Pathogenic
36 RB1 NM_000321.2(RB1): c.1909C> T (p.Gln637Ter) single nucleotide variant Pathogenic rs587778833 GRCh37 Chromosome 13, 49030434: 49030434
37 RB1 NM_000321.2(RB1): c.1925T> A (p.Leu642Ter) single nucleotide variant Pathogenic rs587778865 GRCh37 Chromosome 13, 49030450: 49030450
38 RB1 NM_000321.2(RB1): c.2101G> A (p.Asp701Asn) single nucleotide variant Pathogenic rs587778859 GRCh37 Chromosome 13, 49033964: 49033964
39 RB1 NM_000321.2(RB1): c.1723C> T (p.Gln575Ter) single nucleotide variant Pathogenic rs587778864 GRCh37 Chromosome 13, 49027156: 49027156
40 RB1 NM_000321.2(RB1): c.1735C> T (p.Arg579Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913305 GRCh37 Chromosome 13, 49027168: 49027168
41 RB1 NM_000321.2(RB1): c.2107-1G> C single nucleotide variant Pathogenic rs587778860 GRCh37 Chromosome 13, 49037866: 49037866
42 RB1 NM_000321.2(RB1): c.2164A> T (p.Lys722Ter) single nucleotide variant Pathogenic rs587778849 GRCh37 Chromosome 13, 49037924: 49037924
43 RB1 NM_000321.2(RB1): c.2197C> T (p.His733Tyr) single nucleotide variant Pathogenic rs587778835 GRCh37 Chromosome 13, 49037957: 49037957
44 RB1 NM_000321.2(RB1): c.2209G> T (p.Glu737Ter) single nucleotide variant Pathogenic rs587778868 GRCh37 Chromosome 13, 49037969: 49037969
45 RB1 NG_009009.1: g.1662319T> A single nucleotide variant Pathogenic
46 RB1 NM_000321.2(RB1): c.2227_2230dupTTGA (p.Lys745Aspfs) duplication Pathogenic rs587778836 GRCh37 Chromosome 13, 49039149: 49039152
47 RB1 NM_000321.2(RB1): c.2247T> A (p.Tyr749Ter) single nucleotide variant Pathogenic rs587778861 GRCh37 Chromosome 13, 49039169: 49039169
48 RB1 NG_009009.1: g.166501C> G single nucleotide variant Pathogenic
49 RB1 NM_000321.2(RB1): c.2453delG (p.Gly818Valfs) deletion Pathogenic rs587778837 GRCh37 Chromosome 13, 49039468: 49039468
50 RB1 NM_000321.2(RB1): c.2490-1G> A single nucleotide variant Pathogenic rs587778838 GRCh37 Chromosome 13, 49047495: 49047495

Cosmic variations for Retinoblastoma:

9 (show all 38)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM878 RB1 eye,retina,retinoblastoma,NS c.751C>T p.R251* 28
2 COSM889 RB1 eye,retina,retinoblastoma,NS c.2158A>T p.K720* 28
3 COSM1015 RB1 eye,retina,retinoblastoma,NS c.1215+1G>A p.? 28
4 COSM144722 RB1 eye,retina,retinoblastoma,NS c.265-2A>C p.? 28
5 COSM1047 RB1 eye,retina,retinoblastoma,NS c.982A>C p.N328H 28
6 COSM942 RB1 eye,retina,retinoblastoma,NS c.2063T>C p.L688P 28
7 COSM880 RB1 eye,retina,retinoblastoma,NS c.1333C>T p.R445* 28
8 COSM891 RB1 eye,retina,retinoblastoma,NS c.958C>T p.R320* 28
9 COSM890 RB1 eye,retina,retinoblastoma,NS c.409G>T p.E137* 28
10 COSM1041 RB1 eye,retina,retinoblastoma,NS c.1049+1G>T p.? 28
11 COSM1017 RB1 eye,retina,retinoblastoma,NS c.380+1G>T p.? 28
12 COSM3724510 RB1 eye,retina,retinoblastoma,NS c.2527G>T p.E843* 28
13 COSM1050 RB1 eye,retina,retinoblastoma,NS c.1421G>A p.S474N 28
14 COSM877 RB1 eye,retina,retinoblastoma,NS c.341C>A p.S114* 28
15 COSM910 RB1 eye,retina,retinoblastoma,NS c.1467C>A p.C489* 28
16 COSM895 RB1 eye,retina,retinoblastoma,NS c.1363C>T p.R455* 28
17 COSM13117 RB1 eye,retina,retinoblastoma,NS c.2053C>T p.Q685* 28
18 COSM1636648 RB1 eye,retina,retinoblastoma,NS c.2106+2T>G p.? 28
19 COSM1014 RB1 eye,retina,retinoblastoma,NS c.1216-2A>G p.? 28
20 COSM888 RB1 eye,retina,retinoblastoma,NS c.1666C>T p.R556* 28
21 COSM938 RB1 eye,retina,retinoblastoma,NS c.967G>T p.E323* 28
22 COSM887 RB1 eye,retina,retinoblastoma,NS c.1654C>T p.R552* 28
23 COSM943 RB1 eye,retina,retinoblastoma,NS c.763C>T p.R255* 28
24 COSM1026 RB1 eye,retina,retinoblastoma,NS c.2326-2A>C p.? 28
25 COSM903 RB1 eye,retina,retinoblastoma,NS c.1494T>A p.Y498* 28
26 COSM1013 RB1 eye,retina,retinoblastoma,NS c.1389+1G>C p.? 28
27 COSM876 RB1 eye,retina,retinoblastoma,NS c.160G>T p.E54* 28
28 COSM1030 RB1 eye,retina,retinoblastoma,NS c.1961-1G>A p.? 28
29 COSM1040 RB1 eye,retina,retinoblastoma,NS c.1960+2T>C p.? 28
30 COSM911 RB1 eye,retina,retinoblastoma,NS c.1166T>A p.L389* 28
31 COSM3724517 RB1 eye,retina,retinoblastoma,NS c.862-5T>G p.? 28
32 COSM3724518 RB1 eye,retina,retinoblastoma,NS c.2520+4A>G p.? 28
33 COSM936 RB1 eye,retina,retinoblastoma,NS c.1183C>T p.Q395* 28
34 COSM1016 RB1 eye,retina,retinoblastoma,NS c.1960+1G>A p.? 28
35 COSM882 RB1 eye,retina,retinoblastoma,NS c.2152G>A p.D718N 28
36 COSM764 PIK3CA eye,retina,retinoblastoma,NS c.1634A>G p.E545G 28
37 COSM521 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 28
38 COSM520 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 28

Copy number variations for Retinoblastoma from CNVD:

7 (show top 50) (show all 60)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13753 1 1 27800000 Loss TP73 Retinoblastoma
2 17187 1 141465960 179620513 Gain MCL1 Retinoblastoma
3 17188 1 141465960 179620513 Gain MUC1 Retinoblastoma
4 17189 1 141465960 179620513 Gain SHC1 Retinoblastoma
5 35903 1 68700000 69500000 Copy number Retinoblastoma
6 39761 10 119100000 135374737 Copy number MGMT Retinoblastoma
7 49686 11 110000000 120700000 Loss IGSF4 Retinoblastoma
8 51534 11 127676090 128202918 Losse ETS1 Retinoblastoma
9 53561 11 31000000 36400000 Copy number CD44 Retinoblastoma
10 53578 11 31000000 36400000 Gain PAX6 Retinoblastoma
11 53580 11 31000000 36400000 Gain WT1 Retinoblastoma
12 57117 11 63100000 76700000 Copy number GSTP1 Retinoblastoma
13 64482 12 128700000 132349534 Loss CHFR Retinoblastoma
14 75253 13 18400000 22200000 Copy number Retinoblastoma
15 76125 13 27800000 31100000 Loss BRCA2 Retinoblastoma
16 76619 13 33623259 78516556 Losse ARLTS1 Retinoblastoma
17 76620 13 33623259 78516556 Losse RB1 Retinoblastoma
18 77033 13 39500000 52200000 Copy number Retinoblastoma
19 77039 13 39500000 52200000 Deletion HTR2A Retinoblastoma
20 77041 13 39500000 52200000 Deletion NUFIP1 Retinoblastoma
21 77043 13 39500000 52200000 Deletion PCDH17 Retinoblastoma
22 77045 13 39500000 52200000 Deletion PCDH8 Retinoblastoma
23 77635 13 46200000 48900000 Copy number Retinoblastoma
24 77647 13 46200000 48900000 Loss RB1 Retinoblastoma
25 77992 13 48877883 49056026 Mutation RB1 Retinoblastoma
26 80983 14 1 106368585 Copy number Retinoblastoma
27 87295 14 72900000 78400000 Gain MLH3 Retinoblastoma
28 89229 15 14100000 18400000 Copy number Retinoblastoma
29 94758 15 70400000 73100000 Copy number Retinoblastoma
30 98276 16 16700000 27600000 Gain PYCARD Retinoblastoma
31 102221 16 50674625 57636204 Losse CYLD Retinoblastoma
32 102222 16 50674625 57636204 Losse RBL2 Retinoblastoma
33 106052 16 85600000 87200000 Loss CDH13 Retinoblastoma
34 116545 17 6800000 11200000 Loss TP53 Retinoblastoma
35 119289 18 10900000 15400000 Copy number Retinoblastoma
36 120630 18 2900000 7200000 Copy number Retinoblastoma
37 124148 19 1 63811651 Copy number Retinoblastoma
38 137753 2 15120360 17242742 Gain DDX1 Retinoblastoma
39 137754 2 15120360 17242742 Gain MYCN Retinoblastoma
40 146281 2 47600000 61100000 Copy number MSH6 Retinoblastoma
41 155742 20 57900000 62435964 Loss GATA5 Retinoblastoma
42 166071 3 1 199501827 Copy number Retinoblastoma
43 179178 3 8700000 11500000 Gain VHL Retinoblastoma
44 200479 5 55800000 115200000 Gain APC Retinoblastoma
45 204222 6 108083 58827841 Gain CCND3 Retinoblastoma
46 204223 6 108083 58827841 Gain DEK Retinoblastoma
47 204224 6 108083 58827841 Gain E2F3 Retinoblastoma
48 204225 6 108083 58827841 Gain IRF4 Retinoblastoma
49 204226 6 108083 58827841 Gain PIM1 Retinoblastoma
50 206873 6 149100000 152600000 Gain ESR Retinoblastoma

Expression for Retinoblastoma

Search GEO for disease gene expression data for Retinoblastoma.

Pathways for Retinoblastoma

Pathways related to Retinoblastoma according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110

Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
2
Show member pathways
13.86 DDX1 E2F1 E2F4 MDM2 RBBP4 RBBP7
3
Show member pathways
13.76 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
4
Show member pathways
13.49 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
5
Show member pathways
13.25 CDK4 E2F1 E2F2 E2F3 MDM2 RB1
6
Show member pathways
13.12 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
7
Show member pathways
13.1 E2F1 E2F4 MDM2 RBBP4 RBBP7 RBBP8
8
Show member pathways
13.09 CCND1 CCND3 CDK4 E2F1 MDM2 RB1
9
Show member pathways
13.05 ARID4A CCND1 CDK4 RBBP4 RBBP5 RBBP7
10 12.97 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
11
Show member pathways
12.84 CCND1 CDK4 E2F1 E2F2 E2F3 RB1
12
Show member pathways
12.8 CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
13
Show member pathways
12.74 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
14
Show member pathways
12.71 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
15
Show member pathways
12.68 CCND1 CDK4 E2F1 E2F2 E2F3 RB1
16 12.66 CCND1 CCND3 CDK4 E2F1 MDM2 RB1
17 12.59 CCND1 E2F1 E2F2 E2F3 MDM2
18 12.59 CCND1 CCND3 CDK4 E2F1 E2F4 RB1
19 12.57 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
20
Show member pathways
12.55 E2F1 E2F2 E2F3 E2F4 RB1
21
Show member pathways
12.5 CCND1 CCND3 CDK4 E2F1 MDM2 RB1
22 12.46 CCND1 CCND3 CDK4 MDM2 RB1 RBL1
23 12.46 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
24
Show member pathways
12.44 CCND1 CCND3 CDK4 RB1
25
Show member pathways
12.43 CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
26
Show member pathways
12.4 CCND1 CCND3 CDK4 E2F1 E2F4 RB1
27
Show member pathways
12.37 CCND1 CCND3 CDK4 E2F1 E2F2 E2F4
28 12.35 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
29
Show member pathways
12.3 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
30 12.26 CCND1 CDK4 E2F1 MDM2 RB1
31
Show member pathways
12.25 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
32 12.2 CCND1 E2F4 RBL1 RBL2 TFDP1
33 12.19 E2F1 E2F4 RB1 RBL1 RBL2
34
Show member pathways
12.17 PRDM2 RBBP4 RBBP5 RBBP7
35 12.17 E2F1 MDM2 RB1 RBBP4 RBBP7
36 12.14 CCND1 CCND3 CDK4 MDM2
37 12.12 CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
38
Show member pathways
12.11 CCND1 E2F1 E2F3 TFDP1
39 12.09 CCND1 CDK4 E2F1 RB1
40 12.06 CCND1 CCND3 MDM2 RBL2
41
Show member pathways
12.06 E2F1 E2F4 RBL1 RBL2 TFDP1
42 12.05 CCND1 CDK4 E2F1 E2F2 E2F3 RB1
43
Show member pathways
11.99 E2F1 E2F2 E2F3 E2F4 RB1 RBBP8
44
Show member pathways
11.96 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
45 11.94 E2F1 MDM2 RB1
46 11.92 CDK4 RBBP4 RBBP7 RBL1 TFDP1
47 11.92 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
48 11.87 CCND1 MDM2 RB1
49 11.86 CCND3 CDK4 E2F1 RB1 RBL2
50 11.83 E2F4 RBL1 TFDP1

GO Terms for Retinoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.61 CDK4 E2F1 E2F2 E2F3 E2F4 RB1
2 nucleoplasm GO:0005654 9.6 ARID4A CCND1 CCND3 CDK4 DDX1 E2F1
3 transcriptional repressor complex GO:0017053 9.58 ARID4A CCND1 RBBP8
4 RNA polymerase II transcription factor complex GO:0090575 9.54 E2F2 E2F3 TFDP1
5 ESC/E(Z) complex GO:0035098 9.46 RBBP4 RBBP7
6 NuRD complex GO:0016581 9.43 RBBP4 RBBP7
7 cyclin-dependent protein kinase holoenzyme complex GO:0000307 9.43 CCND1 CCND3 CDK4
8 Rb-E2F complex GO:0035189 9.32 E2F1 RB1
9 nucleus GO:0005634 10.16 ARID4A CCND1 CCND3 CDK4 DDX1 E2F1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 9.99 RB1 RBBP4 RBBP5 RBBP7 RBL1 RBL2
2 regulation of cell proliferation GO:0042127 9.93 CCND3 CDK4 E2F4 RBBP9
3 negative regulation of gene expression GO:0010629 9.93 MDM2 RB1 RBL1 RBL2
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.91 CCND1 CDK4 E2F2 E2F3
5 regulation of signal transduction by p53 class mediator GO:1901796 9.88 MDM2 RBBP4 RBBP7 RBBP8
6 G1/S transition of mitotic cell cycle GO:0000082 9.84 CCND1 CDK4 RB1 RBBP8
7 histone deacetylation GO:0016575 9.78 ARID4A RBBP4 RBBP7
8 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.77 E2F1 E2F4 MDM2 RBL2 TFDP1
9 positive regulation of cell cycle GO:0045787 9.76 CCND1 CDK4 MDM2
10 response to steroid hormone GO:0048545 9.73 CCND1 MDM2 RBBP7
11 negative regulation of G0 to G1 transition GO:0070317 9.72 E2F1 RBBP4 RBBP7 RBBP8 TFDP1
12 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.71 E2F1 E2F4 RB1 TFDP1
13 negative regulation of cell cycle arrest GO:0071157 9.7 CCND1 CDK4 MDM2
14 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.65 CCND1 E2F1
15 response to magnesium ion GO:0032026 9.64 CCND1 MDM2
16 regulation of insulin receptor signaling pathway GO:0046626 9.64 CCND3 CDK4
17 negative regulation of fat cell proliferation GO:0070345 9.63 E2F1 E2F3 TFDP1
18 cell cycle checkpoint GO:0000075 9.62 RB1 RBBP8
19 regulation of lipid kinase activity GO:0043550 9.61 RB1 RBL1 RBL2
20 regulation of cell cycle GO:0051726 9.61 CCND1 CCND3 CDK4 E2F1 E2F2 RB1
21 cellular response to xenobiotic stimulus GO:0071466 9.6 E2F1 RB1
22 lens fiber cell apoptotic process GO:1990086 9.59 E2F1 E2F2
23 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.55 E2F1 RB1
24 cell cycle GO:0007049 9.44 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
25 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 ARID4A E2F1 E2F2 E2F3 E2F4 PRDM2
26 regulation of transcription, DNA-templated GO:0006355 10.13 ARID4A CCND1 DDX1 E2F1 E2F2 E2F3
27 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 CCND1 CCND3 E2F1 MDM2 RB1 RBBP7
28 negative regulation of transcription, DNA-templated GO:0045892 10.05 ARID4A E2F1 MDM2 RB1 RBBP7
29 regulation of transcription by RNA polymerase II GO:0006357 10.04 ARID4A RB1 RBBP8 RBL1 RBL2 TFDP1
30 transcription, DNA-templated GO:0006351 10.03 ARID4A CCND1 DDX1 E2F1 E2F2 E2F3
31 cell division GO:0051301 10.02 CCND1 CCND3 CDK4 RB1 RBBP8

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.92 ARID4A E2F1 E2F2 E2F3 E2F4 PRDM2
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.8 E2F2 E2F3 PRDM2 TFDP1
3 protein dimerization activity GO:0046983 9.78 E2F1 E2F2 E2F3 E2F4
4 histone deacetylase activity GO:0004407 9.63 ARID4A RBBP4 RBBP7
5 promoter-specific chromatin binding GO:1990841 9.58 E2F4 RBL1 RBL2
6 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.54 CCND1 CCND3 CDK4
7 cyclin-dependent protein serine/threonine kinase regulator activity GO:0016538 9.51 CCND1 CDK4
8 core promoter binding GO:0001047 9.46 E2F1 E2F2 E2F3 RB1
9 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.35 E2F2 E2F3 E2F4 PRDM2 TFDP1
10 transcription factor binding GO:0008134 9.17 CCND1 E2F1 E2F2 E2F4 RB1 RBL1
11 protein binding GO:0005515 10.39 CCND1 CCND3 CDK4 DDX1 E2F1 E2F2
12 DNA binding GO:0003677 10 ARID4A DDX1 E2F1 E2F2 E2F3 E2F4

Sources for Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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