MCID: RTN024
MIFTS: 70

Retinoblastoma

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

Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Name: Retinoblastoma 57 12 76 24 53 25 59 37 29 13 55 6 15 40 73
Rb 57 12 53 25 75
Retinoblastoma, Trilateral 57 29 6
Trilateral Retinoblastoma 12 15 73
Childhood Cancer Retinoblastoma 75
Malignant Neoplasm of Retina 73
Eye Cancer, Retinoblastoma 53
Neuroblastoma of Retina 12
Rb - Retinoblastoma 12
Retinal Neoplasms 73
Glioma, Retinal 25
Retinal Cancer 53
Retinal Tumor 53
Rb1 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32

GeneReviews:

24
Penetrance See genotype-phenotype correlations...

Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Retinoblastoma

NIH Rare Diseases : 53 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.

MalaCards based summary : Retinoblastoma, also known as rb, is related to unilateral retinoblastoma and bilateral retinoblastoma. An important gene associated with Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are Cell cycle and Cell Cycle, Mitotic. The drugs Ibrance and Tasigna have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and lung, and related phenotypes are retinoblastoma and cleft palate

OMIM : 57 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 : 75 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 : 25 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 : 76 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 279)
# Related Disease Score Top Affiliating Genes
1 unilateral retinoblastoma 34.9 RB1 RBL1
2 bilateral retinoblastoma 34.6 RB1 RBL1
3 ocular cancer 32.9 CCND1 CDK4 E2F1 PRDM2 RB1 RBL1
4 retinal cancer 32.6 CCND1 CDK4 E2F1 PRDM2 RB1 RBBP4
5 spindle cell lipoma 30.7 CDK4 RB1
6 pituitary adenoma 30.1 HOTAIR MALAT1 MEG3
7 neuroblastoma 30.1 DDX1 HOTAIR MALAT1 MEG3 MIR34A
8 bladder cancer 29.9 BANCR CCND1 CDK4 HOTAIR MALAT1 MEG3
9 myeloma, multiple 29.9 CCAT1 CCND1 CDK4 HOTAIR MALAT1 MEG3
10 cervical cancer 29.8 CCAT1 CCND1 HOTAIR MALAT1 MEG3 RB1
11 glioblastoma 29.8 CCND1 CDK4 E2F1 HOTAIR MALAT1 MEG3
12 melanoma 29.8 BANCR CDK4 HOTAIR MALAT1 MEG3 MIR34A
13 bladder urothelial carcinoma 29.8 CCND1 HOTAIR MALAT1 MEG3 RB1
14 glioma 29.7 CCAT1 CCND1 CDK4 HOTAIR MALAT1 MEG3
15 thyroid cancer, nonmedullary, 1 29.7 BANCR HOTAIR MALAT1 MEG3 MIR34A
16 mantle cell lymphoma 29.6 CCND1 CDK4 MALAT1
17 lung cancer susceptibility 3 29.5 CCAT1 CCND1 CDK4 HOTAIR MALAT1 MEG3
18 prostate cancer 29.5 CCND1 CDK4 E2F1 HOTAIR MALAT1 MEG3
19 esophageal cancer 29.3 CCAT1 CCND1 CDK4 HOTAIR MALAT1 MEG3
20 nasopharyngeal carcinoma 29.3 CCAT1 CCND1 CDK4 HOTAIR MALAT1 MEG3
21 gastric cancer 29.2 BANCR CCAT1 CCND1 HOTAIR MALAT1 MEG3
22 osteogenic sarcoma 29.2 BANCR CCAT1 HOTAIR MALAT1 MEG3 RB1
23 hepatocellular carcinoma 29.2 BANCR CCAT1 CCND1 CDK4 E2F1 HOTAIR
24 breast cancer 29.1 CCAT1 CCND1 CDK4 E2F1 HOTAIR MALAT1
25 ovarian cancer 29.1 CCAT1 CCND1 CDK4 HOTAIR MALAT1 MEG3
26 oral squamous cell carcinoma 28.9 CCAT1 HOTAIR MALAT1 MEG3 MIR34A MIR34B
27 pancreatic cancer 28.9 CCAT1 CCND1 CDK4 HOTAIR MALAT1 MEG3
28 lung cancer 28.9 BANCR CCAT1 CCND1 CDK4 E2F1 HOTAIR
29 leukemia, acute myeloid 28.8 CCAT1 HOTAIR MALAT1 MEG3 MIR320A MIR34B
30 colorectal cancer 28.1 BANCR CCAT1 CCND1 CDK4 E2F1 HOTAIR
31 intraocular retinoblastoma 12.3
32 extraocular retinoblastoma 12.3
33 familial retinoblastoma 12.2
34 pediatric intraocular retinoblastoma 12.1
35 pediatric extraocular retinoblastoma 12.1
36 non-hereditary retinoblastoma 12.0
37 imprinting gene related to retinoblastoma 11.8
38 roberts syndrome 11.7
39 chromosome 13q14 deletion syndrome 11.2
40 nervous system cancer 10.9 CCND1 CDK4 RB1 RBL1 RBL2
41 respiratory bronchiolitis-interstitial lung disease syndrome 10.9
42 glioblastoma multiforme 10.9 CCND1 CDK4 E2F1 RB1
43 functionless pituitary adenoma 10.8 HOTAIR MEG3
44 norrie disease 10.8
45 autism 3 10.8
46 embryoma 10.8
47 retinal disease 10.8
48 undifferentiated embryonal sarcoma of the liver 10.8 CDK4 MALAT1
49 triple-receptor negative breast cancer 10.7 HOTAIR MALAT1
50 squamous cell carcinoma, head and neck 10.7 CCND1 CDK4 HOTAIR RB1

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to Retinoblastoma

Symptoms & Phenotypes for Retinoblastoma

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
lymphoma
leukemia
osteogenic sarcoma
pinealoma (trilateral retinoblastoma)
ewing sarcoma

Head And Neck Mouth:
cleft palate (rare)

Head And Neck Eyes:
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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinoblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009919
2 cleft palate 32 HP:0000175
3 leukocoria 32 HP:0000555
4 leukemia 32 HP:0001909
5 lymphoma 32 HP:0002665
6 osteosarcoma 32 HP:0002669
7 retinal calcification 32 HP:0007862
8 vitreous hemorrhage 32 HP:0007902
9 pinealoma 32 HP:0010799
10 vitritis 32 occasional (7.5%) HP:0011531
11 ewing's sarcoma 32 HP:0012254

MGI Mouse Phenotypes related to Retinoblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.23 CCND1 CDK4 E2F1 PRDM2 RB1 RBBP8

Drugs & Therapeutics for Retinoblastoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Ibrance 18 49 PALBOCICLIB Pfizer February 2015
2
Tasigna 18 49 NILOTINIB HYDROCHLORIDE MONOHYDRATE Novartis October 2007
3
Kalydeco 18 IVACAFTOR Vertex Pharmaceuticals January of 2012

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

(show top 50) (show all 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 498142 38904
2
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
3
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 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,Not Applicable 135968-09-1
8
Nicotine Approved Phase 4 54-11-5 942 89594
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,Not Applicable
12 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Etoposide phosphate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Antifungal Agents Phase 4,Phase 2,Phase 1
20 Cytochrome P-450 CYP3A Inhibitors Phase 4
21 Cytochrome P-450 Enzyme Inhibitors Phase 4
22
Hydroxyitraconazole Phase 4
23 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
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,Not Applicable
29
Cisplatin Approved Phase 3,Phase 2,Not Applicable 15663-27-1 84093 441203 2767
30
Palbociclib Approved, Investigational Phase 3,Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
31
Iodine Approved, Investigational Phase 3,Phase 2,Phase 1 7553-56-2 807
32
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
33
Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 52-24-4 5453
34
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
35
Mesna Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 3375-50-6 598
36
Topotecan Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 119413-54-6, 123948-87-8 60700
37
Letrozole Approved, Investigational Phase 3,Phase 2,Phase 1 112809-51-5 3902
38
Doxil Approved June 1999 Phase 3,Phase 2 31703
39 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
40 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
41 Anti-Infective Agents, Local Phase 3,Phase 2
42 cadexomer iodine Phase 3,Phase 2,Phase 1
43 Micronutrients Phase 3,Phase 2
44 Trace Elements Phase 3,Phase 2
45 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
48 Anesthetics Phase 3,Phase 2,Not Applicable,Early Phase 1
49 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1
50 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 134)
# 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 Treatment Protocol for Non-Metastatic Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
13 Adjuvant Chemotherapy for High-risk Retinoblastoma After Enucleation Recruiting NCT01906814 Phase 3 3 cycles chemotherapy;6 cycles chemotherapy
14 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
15 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
16 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
17 A Study of Palbociclib (PD-0332991) + Letrozole vs. Letrozole For 1st Line Treatment Of Postmenopausal Women With ER+/HER2- Advanced Breast Cancer (PALOMA-2) Active, not recruiting NCT01740427 Phase 3 PD-0332991;Letrozole;Placebo;Letrozole
18 Efficacy Study of Lucentis in the Treatment of Retinoblastoma Unknown status NCT01899066 Phase 2 Lucentis, chemotherapy;chemotherapy
19 Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2 Carboplatin;VP-16
20 Efficacy and Safety of Fufangdanshen Tablets in Mild to Moderate Vascular Dementia Unknown status NCT01761227 Phase 2 Fufangdanshen Tablets;Placebo
21 Chemotherapy in Treating Patients With Retinoblastoma Completed NCT00002675 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
22 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
23 Carboplatin Plus Vincristine in Treating Children With Retinoblastoma Completed NCT00002794 Phase 2 carboplatin;vincristine sulfate
24 Combination Chemotherapy, Radiation Therapy, and Bone Marrow Transplantation in Treating Patients With Retinoblastoma Completed NCT00004006 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
25 Cyclin Dependent Kinase (CDK)4/6 Inhibitor, PD0332991 in Advanced Non-small Cell Lung Cancer NSCLC. Completed NCT01291017 Phase 2 PD0332991
26 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
27 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2 becatecarin
28 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
29 High-Dose Thiotepa Plus Peripheral Stem Cell Transplantation in Treating Patients With Refractory Solid Tumors Completed NCT00003173 Phase 2 thiotepa
30 Arsenic Trioxide in Treating Patients With Advanced Neuroblastoma or Other Childhood Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
31 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
32 Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
33 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
34 Metformin Hydrochloride in Treating Patients With Prostate Cancer Undergoing Surgery Completed NCT01433913 Phase 2 metformin hydrochloride
35 Study Of Letrozole With Or Without Palbociclib (PD-0332991) For The First-Line Treatment Of Hormone-Receptor Positive Advanced Breast Cancer Completed NCT00721409 Phase 2 PD 0332991;letrozole;letrozole
36 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
37 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
38 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
39 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
40 Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
41 Anastrozole, Palbociclib, Trastuzumab and Pertuzumab in Her-positive, Her2-positive Metastatic Breast Recruiting NCT03304080 Phase 1, Phase 2 Anastrozole;Palbociclib;Trastuzumab;Pertuzumab
42 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
43 Palbociclib With Cetuximab and IMRT for Locally Advanced Squamous Cell Carcinoma Recruiting NCT03024489 Phase 1, Phase 2 Palbociclib;Palbociclib;Palbociclib;Palbociclib;Cetuximab
44 Molecular Mechanisms of Resistance and Sensitivity to Palbociclib Re-challenge in ER+ mBC Recruiting NCT03184090 Phase 2 Palbociclib;Endocrine therapy (non IMP)
45 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
46 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
47 Trial of Topotecan With VX-970, an ATR Kinase Inhibitor, in Small Cell Cancers Amd Extrapulmonary Small Cell Cancers Recruiting NCT02487095 Phase 1, Phase 2 Topotecan;VX-970
48 Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03526250 Phase 2 Palbociclib
49 CAPTEM or FOLFIRI as SEcond-line Therapy in NEuroendocrine CArcinomas Recruiting NCT03387592 Phase 2 CPT-11;Calcio levofolinate;5-Fluorouracil;Capecitabine;Temozolomide
50 Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma Active, not recruiting NCT00110110 Phase 2 Carboplatin;Cyclosporine;Etoposide;vincristine sulfate

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

# Genetic test Affiliating Genes
1 Retinoblastoma, Trilateral 29
2 Retinoblastoma 29 RB1

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

41
Eye, Retina, Lung, Prostate, Bone, Testes, Pineal

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 2944)
# Title Authors Year
1
Assessment of retinoblastoma RNA reflux after intravitreal injection of melphalan. ( 29089355 )
2018
2
Knockdown of long noncoding RNA 00152 (LINC00152) inhibits human retinoblastoma progression. ( 29922070 )
2018
3
Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents. ( 29379195 )
2018
4
Insulin receptor substrate-4 is overexpressed in colorectal cancer and promotes retinoblastoma-cyclin-dependent kinase activation. ( 29353348 )
2018
5
Downregulation of NIMA-related kinase-7 inhibits cell proliferation by inducing cell cycle arrest in human retinoblastoma cells. ( 29434721 )
2018
6
Retinoblastoma: towards an earlier diagnosis. ( 29929761 )
2018
7
How to do an enucleation for retinoblastoma. ( 29915465 )
2018
8
Leucine-Rich I+-2-Glycoprotein-1 (LRG-1) Expression in Retinoblastoma. ( 29392314 )
2018
9
Long noncoding RNA BDNF-AS is a potential biomarker and regulates cancer development in human retinoblastoma. ( 28131827 )
2018
10
Pharmacokinetics, Tissue Localization, Toxicity, and Treatment Efficacy in the First Small Animal (Rabbit) Model of Intra-Arterial Chemotherapy for Retinoblastoma. ( 29368001 )
2018
11
Correction to: The National Registry of Retinoblastoma in Japan (1983-2014). ( 29934939 )
2018
12
Is a diagnostic lumbar puncture indicated in intraocular retinoblastoma? ( 29676357 )
2018
13
Short linear motif core and flanking regions modulate retinoblastoma protein binding affinity and specificity. ( 29370437 )
2018
14
Standard reporting of high-risk histopathology features in retinoblastoma. ( 29915463 )
2018
15
Treatment of Nonmetastatic Unilateral Retinoblastoma in Children. ( 29799944 )
2018
16
Current Treatment of Bilateral Retinoblastoma: The Impact of Intraarterial and Intravitreous Chemotherapy. ( 29940303 )
2018
17
Epidemiological and genetic considerations in retinoblastoma. ( 29915469 )
2018
18
Re: Zhao etA al.: Pars plana vitrectomy and endoresection ofA refractory intraocular retinoblastoma (Ophthalmology. 2018;125:320-322). ( 29935678 )
2018
19
Screening Children at Risk for Retinoblastoma. ( 29378897 )
2018
20
Standard reporting of high-risk histopathology features in retinoblastoma. ( 29915470 )
2018
21
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
22
Retinoblastoma: The importance of early diagnosis. ( 29954624 )
2018
23
The down-regulation of microRNA-137 contributes to the up-regulation of retinoblastoma cell proliferation and invasion by regulating COX-2/PGE2 signaling. ( 29945115 )
2018
24
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
25
A Laser-Activated Multifunctional Targeted Nanoagent for Imaging and Gene Therapy in a Mouse Xenograft Model with Retinoblastoma Y79 Cells. ( 29452275 )
2018
26
Two cases of conjunctival squamous cell carcinoma in the anophthalmic socket after treatment of retinoblastoma. ( 29863813 )
2018
27
Teaching NeuroImages: A diffuse infiltrating retinoblastoma. ( 29358521 )
2018
28
Case series: effect of dermis-fat implants in different late onset socket problems encountered in retinoblastoma patients. ( 29939822 )
2018
29
TNM8: The updated TNM classification for retinoblastoma. ( 29915471 )
2018
30
SYK-targeted dendritic cell-mediated cytotoxic T lymphocytes enhance the effect of immunotherapy on retinoblastoma. ( 29372378 )
2018
31
UHRF1 depletion sensitizes retinoblastoma cells to chemotherapeutic drugs via downregulation of XRCC4. ( 29415984 )
2018
32
Improved procedural safety following protocol changes for selective ophthalmic arterial infusion of chemotherapy for treatment of ocular retinoblastoma. ( 29436917 )
2018
33
Management of retinoblastoma with extraocular tumour extension. ( 29915464 )
2018
34
Clinical and genetic associations for carboplatin-related ototoxicity in children treated for retinoblastoma: A retrospective noncomparative single-institute experience. ( 29350448 )
2018
35
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? ( 29336617 )
2018
36
Retrospective analysis of primarily treated group D retinoblastoma. ( 29961117 )
2018
37
OCT-guided management of subclinical recurrent retinoblastoma. ( 29424610 )
2018
38
Vision and visual potential for perifoveal retinoblastoma after optical coherence tomographic-guided sequential laser photocoagulation. ( 29976784 )
2018
39
HAND-HELD OPTICAL COHERENCE TOMOGRAPHY MONITORING OF CHEMORESISTANT RETINOBLASTOMA. ( 29443806 )
2018
40
Prior non-irradiative focal therapies do not compromise the efficacy of delayed episcleral plaque brachytherapy in retinoblastoma. ( 29954786 )
2018
41
Ophthalmic Vascular Events after Primary Unilateral Intra-arterial Chemotherapy for Retinoblastoma in Early and Recent Eras. ( 29921454 )
2018
42
Experimental animal study of docetaxel combined with carboplatin in the treatment of retinoblastoma. ( 29928406 )
2018
43
Republished: Identifying key genes in retinoblastoma by comparing classifications of several kinds of significant genes. ( 29970674 )
2018
44
Chronic myeloid leukemia following treatment for bilateral retinoblastoma. ( 29727044 )
2018
45
Pars Plana Vitrectomy and Endoresection of Refractory Intraocular Retinoblastoma. ( 29153457 )
2018
46
Managing and treating intraocular retinoblastoma. ( 29915462 )
2018
47
Misidentified Human Gene Functions with Mouse Models: The Case of the Retinoblastoma Gene Family in Senescence. ( 28865301 )
2017
48
MicroRNA-215 enhances invasion and migration by targeting retinoblastoma tumor suppressor gene 1 in high-grade glioma. ( 27837373 )
2017
49
Blockade of sonic hedgehog signaling decreases viability and induces apoptosis in retinoblastoma cells: The key role of the PI3K/Akt pathway. ( 28943916 )
2017
50
Quadruple Neoplasms following Radiation Therapy for Congenital Bilateral Retinoblastoma. ( 29344496 )
2017

Variations for Retinoblastoma

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

75 (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 753)
# 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.2520+1delG deletion Pathogenic rs587776779 GRCh38 Chromosome 13, 48473391: 48473391
3 RB1 NM_000321.2(RB1): c.1960+2T> C single nucleotide variant Pathogenic rs587776780 GRCh37 Chromosome 13, 49030487: 49030487
4 RB1 NM_000321.2(RB1): c.1960+2T> C single nucleotide variant Pathogenic rs587776780 GRCh38 Chromosome 13, 48456351: 48456351
5 RB1 NM_000321.2(RB1): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs3092891 GRCh37 Chromosome 13, 48953730: 48953730
6 RB1 NM_000321.2(RB1): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs3092891 GRCh38 Chromosome 13, 48379594: 48379594
7 RB1 NM_000321.2(RB1): c.1700C> T (p.Ser567Leu) single nucleotide variant Pathogenic rs137853292 GRCh37 Chromosome 13, 49027133: 49027133
8 RB1 NM_000321.2(RB1): c.1700C> T (p.Ser567Leu) single nucleotide variant Pathogenic rs137853292 GRCh38 Chromosome 13, 48452997: 48452997
9 RB1 NM_000321.2(RB1): c.2359C> T (p.Arg787Ter) single nucleotide variant Pathogenic rs137853293 GRCh37 Chromosome 13, 49039374: 49039374
10 RB1 NM_000321.2(RB1): c.2359C> T (p.Arg787Ter) single nucleotide variant Pathogenic rs137853293 GRCh38 Chromosome 13, 48465238: 48465238
11 RB1 NM_000321.2(RB1): c.2244delG (p.Glu748Aspfs) deletion Pathogenic rs587776781 GRCh37 Chromosome 13, 49039166: 49039166
12 RB1 NM_000321.2(RB1): c.2244delG (p.Glu748Aspfs) deletion Pathogenic rs587776781 GRCh38 Chromosome 13, 48465030: 48465030
13 RB1 NM_000321.2(RB1): c.1049+1G> T single nucleotide variant Pathogenic rs587776782 GRCh37 Chromosome 13, 48941740: 48941740
14 RB1 NM_000321.2(RB1): c.1049+1G> T single nucleotide variant Pathogenic rs587776782 GRCh38 Chromosome 13, 48367604: 48367604
15 RB1 NM_000321.2(RB1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121913301 GRCh37 Chromosome 13, 48942685: 48942685
16 RB1 NM_000321.2(RB1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121913301 GRCh38 Chromosome 13, 48368549: 48368549
17 RB1 RB1, 5-BP DEL, EX8 deletion Pathogenic
18 RB1 NM_000321.2(RB1): c.979_1033dup55 (p.Thr345Lysfs) duplication Pathogenic GRCh37 Chromosome 13, 48941669: 48941723
19 RB1 NM_000321.2(RB1): c.979_1033dup55 (p.Thr345Lysfs) duplication Pathogenic GRCh38 Chromosome 13, 48367533: 48367587
20 RB1 NM_000321.2(RB1): c.1760_1769delAATCTGCTTG (p.Glu587Valfs) deletion Pathogenic rs587776784 GRCh37 Chromosome 13, 49027193: 49027202
21 RB1 NM_000321.2(RB1): c.1760_1769delAATCTGCTTG (p.Glu587Valfs) deletion Pathogenic rs587776784 GRCh38 Chromosome 13, 48453057: 48453066
22 RB1 NM_000321.2(RB1): c.1949_1957delTTTATAAAA (p.Phe650_Lys928del) deletion Pathogenic rs587776785 GRCh37 Chromosome 13, 49030474: 49030482
23 RB1 NM_000321.2(RB1): c.1949_1957delTTTATAAAA (p.Phe650_Lys928del) deletion Pathogenic rs587776785 GRCh38 Chromosome 13, 48456338: 48456346
24 RB1 NM_000321.2(RB1): c.2212-1G> A single nucleotide variant Pathogenic rs587776786 GRCh37 Chromosome 13, 49039133: 49039133
25 RB1 NM_000321.2(RB1): c.2212-1G> A single nucleotide variant Pathogenic rs587776786 GRCh38 Chromosome 13, 48464997: 48464997
26 RB1 NM_000321.2(RB1): c.-189G> T single nucleotide variant Pathogenic rs387906520 GRCh37 Chromosome 13, 48877860: 48877860
27 RB1 NM_000321.2(RB1): c.-189G> T single nucleotide variant Pathogenic rs387906520 GRCh38 Chromosome 13, 48303724: 48303724
28 RB1 NM_000321.2(RB1): c.-198G> A single nucleotide variant Pathogenic rs387906521 GRCh37 Chromosome 13, 48877851: 48877851
29 RB1 NM_000321.2(RB1): c.-198G> A single nucleotide variant Pathogenic rs387906521 GRCh38 Chromosome 13, 48303715: 48303715
30 RB1 NM_000321.2(RB1): c.1981C> T (p.Arg661Trp) single nucleotide variant Pathogenic rs137853294 GRCh37 Chromosome 13, 49033844: 49033844
31 RB1 NM_000321.2(RB1): c.1981C> T (p.Arg661Trp) single nucleotide variant Pathogenic rs137853294 GRCh38 Chromosome 13, 48459708: 48459708
32 RB1 NM_000321.2(RB1): c.2023G> T (p.Glu675Ter) single nucleotide variant Pathogenic rs137853295 GRCh38 Chromosome 13, 48459750: 48459750
33 RB1 NM_000321.2(RB1): c.2023G> T (p.Glu675Ter) single nucleotide variant Pathogenic rs137853295 GRCh37 Chromosome 13, 49033886: 49033886
34 RB1 NM_000321.2(RB1): c.2211G> A (p.Glu737=) single nucleotide variant Pathogenic rs587776787 GRCh37 Chromosome 13, 49037971: 49037971
35 RB1 NM_000321.2(RB1): c.2211G> A (p.Glu737=) single nucleotide variant Pathogenic rs587776787 GRCh38 Chromosome 13, 48463835: 48463835
36 RB1 NM_000321.2(RB1): c.1666C> T (p.Arg556Ter) single nucleotide variant Pathogenic rs121913304 GRCh37 Chromosome 13, 48955550: 48955550
37 RB1 NM_000321.2(RB1): c.1666C> T (p.Arg556Ter) single nucleotide variant Pathogenic rs121913304 GRCh38 Chromosome 13, 48381414: 48381414
38 RB1 NM_000321.2(RB1): c.1439_1441delACA (p.Asn480del) deletion Pathogenic rs587776788 GRCh37 Chromosome 13, 48954318: 48954320
39 RB1 NM_000321.2(RB1): c.1439_1441delACA (p.Asn480del) deletion Pathogenic rs587776788 GRCh38 Chromosome 13, 48380182: 48380184
40 RB1 NM_000321.2(RB1): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs137853296 GRCh37 Chromosome 13, 49037894: 49037894
41 RB1 NM_000321.2(RB1): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs137853296 GRCh38 Chromosome 13, 48463758: 48463758
42 RB1 NM_000321.2(RB1): c.607+1G> T single nucleotide variant Pathogenic rs587776789 GRCh37 Chromosome 13, 48923160: 48923160
43 RB1 NM_000321.2(RB1): c.607+1G> T single nucleotide variant Pathogenic rs587776789 GRCh38 Chromosome 13, 48349024: 48349024
44 RB1 NM_000321.2(RB1): c.1818T> A (p.Tyr606Ter) single nucleotide variant Pathogenic rs137853297 GRCh37 Chromosome 13, 49030343: 49030343
45 RB1 NM_000321.2(RB1): c.1818T> A (p.Tyr606Ter) single nucleotide variant Pathogenic rs137853297 GRCh38 Chromosome 13, 48456207: 48456207
46 RB1 NM_000321.2(RB1): c.43_65dup23 (p.Pro23Leufs) duplication Pathogenic rs587776790 GRCh37 Chromosome 13, 48878091: 48878113
47 RB1 NM_000321.2(RB1): c.43_65dup23 (p.Pro23Leufs) duplication Pathogenic rs587776790 GRCh38 Chromosome 13, 48303955: 48303977
48 RB1 NM_000321.2(RB1): c.2490-1398A> G single nucleotide variant Pathogenic rs587776791 GRCh37 Chromosome 13, 49046098: 49046098
49 RB1 NM_000321.2(RB1): c.2490-1398A> G single nucleotide variant Pathogenic rs587776791 GRCh38 Chromosome 13, 48471962: 48471962
50 RB1 NM_000321.2(RB1): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs398123331 GRCh37 Chromosome 13, 48954198: 48954198

Cosmic variations for Retinoblastoma:

9
(show all 45)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1015 RB1 eye,retina,retinoblastoma,NS c.1215+1G>A p.? 13:48373493-48373493 28
2 COSM1050 RB1 eye,retina,retinoblastoma,NS c.1421G>A p.S474N 13:48380084-48380084 28
3 COSM891 RB1 eye,retina,retinoblastoma,NS c.958C>T p.R320* 13:48367512-48367512 28
4 COSM877 RB1 eye,retina,retinoblastoma,NS c.341C>A p.S114* 13:48342675-48342675 28
5 COSM910 RB1 eye,retina,retinoblastoma,NS c.1467C>A p.C489* 13:48380210-48380210 28
6 COSM895 RB1 eye,retina,retinoblastoma,NS c.1363C>T p.R455* 13:48379624-48379624 28
7 COSM943 RB1 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 28
8 COSM13117 RB1 eye,retina,retinoblastoma,NS c.2053C>T p.Q685* 13:48459780-48459780 28
9 COSM1636648 RB1 eye,retina,retinoblastoma,NS c.2106+2T>G p.? 13:48459835-48459835 28
10 COSM1014 RB1 eye,retina,retinoblastoma,NS c.1216-2A>G p.? 13:48376916-48376916 28
11 COSM888 RB1 eye,retina,retinoblastoma,NS c.1666C>T p.R556* 13:48381414-48381414 28
12 COSM938 RB1 eye,retina,retinoblastoma,NS c.967G>T p.E323* 13:48367521-48367521 28
13 COSM878 RB1 eye,retina,retinoblastoma,NS c.751C>T p.R251* 13:48362847-48362847 28
14 COSM887 RB1 eye,retina,retinoblastoma,NS c.1654C>T p.R552* 13:48381402-48381402 28
15 COSM317962 RB1 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 28
16 COSM1026 RB1 eye,retina,retinoblastoma,NS c.2326-2A>C p.? 13:48465203-48465203 28
17 COSM903 RB1 eye,retina,retinoblastoma,NS c.1494T>A p.Y498* 13:48380237-48380237 28
18 COSM1013 RB1 eye,retina,retinoblastoma,NS c.1389+1G>C p.? 13:48379651-48379651 28
19 COSM876 RB1 eye,retina,retinoblastoma,NS c.160G>T p.E54* 13:48307302-48307302 28
20 COSM1030 RB1 eye,retina,retinoblastoma,NS c.1961-1G>A p.? 13:48459687-48459687 28
21 COSM1040 RB1 eye,retina,retinoblastoma,NS c.1960+2T>C p.? 13:48456351-48456351 28
22 COSM890 RB1 eye,retina,retinoblastoma,NS c.409G>T p.E137* 13:48345108-48345108 28
23 COSM911 RB1 eye,retina,retinoblastoma,NS c.1166T>A p.L389* 13:48373443-48373443 28
24 COSM889 RB1 eye,retina,retinoblastoma,NS c.2158A>T p.K720* 13:48463782-48463782 28
25 COSM880 RB1 eye,retina,retinoblastoma,NS c.1333C>T p.R445* 13:48379594-48379594 28
26 COSM3724517 RB1 eye,retina,retinoblastoma,NS c.862-5T>G p.? 13:48364889-48364889 28
27 COSM3724518 RB1 eye,retina,retinoblastoma,NS c.2520+4A>G p.? 13:48473394-48473394 28
28 COSM936 RB1 eye,retina,retinoblastoma,NS c.1183C>T p.Q395* 13:48373460-48373460 28
29 COSM144722 RB1 eye,retina,retinoblastoma,NS c.265-2A>C p.? 13:48342597-48342597 28
30 COSM1047 RB1 eye,retina,retinoblastoma,NS c.982A>C p.N328H 13:48367536-48367536 28
31 COSM942 RB1 eye,retina,retinoblastoma,NS c.2063T>C p.L688P 13:48459790-48459790 28
32 COSM5700369 RB1 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 28
33 COSM1041 RB1 eye,retina,retinoblastoma,NS c.1049+1G>T p.? 13:48367604-48367604 28
34 COSM1017 RB1 eye,retina,retinoblastoma,NS c.380+1G>T p.? 13:48342715-48342715 28
35 COSM3724510 RB1 eye,retina,retinoblastoma,NS c.2527G>T p.E843* 13:48476707-48476707 28
36 COSM5686463 RB1 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 28
37 COSM1016 RB1 eye,retina,retinoblastoma,NS c.1960+1G>A p.? 13:48456350-48456350 28
38 COSM882 RB1 eye,retina,retinoblastoma,NS c.2152G>A p.D718N 13:48463776-48463776 28
39 COSM764 PIK3CA eye,retina,retinoblastoma,NS c.1634A>G p.E545G 3:179218304-179218304 28
40 COSM520 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 28
41 COSM521 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 28
42 COSM5700368 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 28
43 COSM5686462 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 28
44 COSM5668651 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 28
45 COSM5025108 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 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:

37
# Name Kegg Source Accession
1 Cell cycle hsa04110

Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 CCND1 CDK4 E2F1 RB1 RBBP4 RBBP7
2
Show member pathways
12.95 CCND1 CDK4 E2F1 RB1 RBL1 RBL2
3
Show member pathways
12.94 E2F1 RBBP4 RBBP7 RBBP8 RBL1 RBL2
4
Show member pathways
12.67 CCND1 CDK4 E2F1 RB1 RBL1
5
Show member pathways
12.5 CCND1 CDK4 E2F1 RB1
6 12.46 CCND1 E2F1 MIR34A MIR34B
7 12.41 CCND1 CDK4 E2F1 RB1 RBBP8 RBL2
8 12.38 CCND1 CDK4 E2F1 RB1
9
Show member pathways
12.38 CCND1 CDK4 E2F1 RB1 RBBP4 RBL1
10
Show member pathways
12.37 CCND1 CDK4 E2F1 MIR34B RB1
11 12.27 CCND1 CDK4 RB1 RBL1 RBL2
12 12.27 CCND1 CDK4 E2F1 RB1 RBL1 RBL2
13
Show member pathways
12.23 CCND1 CDK4 E2F1 RB1
14
Show member pathways
12.23 CCND1 CDK4 E2F1 RB1 RBL1 RBL2
15
Show member pathways
12.14 CCND1 CDK4 E2F1 RB1 RBL2
16 12.12 CCND1 CDK4 E2F1 RB1
17 12.04 E2F1 RB1 RBBP4 RBBP7
18 12.04 E2F1 RB1 RBL1 RBL2
19
Show member pathways
12.04 CCND1 CDK4 E2F1 RB1
20 11.99 CCND1 CDK4 E2F1 RB1
21 11.95 CCND1 CDK4 E2F1 RB1
22
Show member pathways
11.86 E2F1 RBL1 RBL2
23 11.86 CCND1 CDK4 E2F1 RB1
24
Show member pathways
11.84 CCND1 CDK4 E2F1 RB1 RBBP4 RBL1
25
Show member pathways
11.76 E2F1 RB1 RBBP8
26 11.74 CDK4 RBBP4 RBBP7 RBL1
27 11.7 CCND1 CDK4 E2F1 RB1
28 11.7 CCND1 CDK4 E2F1 RB1 RBBP4 RBL1
29 11.64 CDK4 E2F1 RB1 RBL2
30 11.6 CCND1 E2F1 RBBP4 RBBP7
31 11.58 CCND1 CDK4 E2F1 RB1 RBBP4 RBBP7
32 11.52 CCND1 E2F1 MIR34B
33 11.49 E2F1 RB1 RBBP8
34 11.47 CDK4 E2F1 RB1
35 11.37 CCND1 CDK4 RB1
36
Show member pathways
11.37 RB1 RBBP4 RBBP7 RBL1 RBL2
37 11.12 CCND1 E2F1 RB1
38 10.96 E2F1 RB1 RBBP4 RBBP8 RBL1 RBL2
39 10.91 RBBP4 RBBP7
40 10.9 RB1 RBL1 RBL2
41 10.75 HOTAIR MEG3

GO Terms for Retinoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.96 CCND1 CDK4 DDX1 E2F1 RB1 RBBP4
2 ESC/E(Z) complex GO:0035098 9.37 RBBP4 RBBP7
3 NuRD complex GO:0016581 9.32 RBBP4 RBBP7
4 chromatin GO:0000785 9.26 CDK4 RB1 RBL1 RBL2
5 Rb-E2F complex GO:0035189 9.16 E2F1 RB1
6 transcription factor complex GO:0005667 9.02 CDK4 E2F1 RB1 RBL1 RBL2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 CCND1 E2F1 RB1 RBBP7 RBBP8 RBL1
2 chromatin organization GO:0006325 9.8 RB1 RBBP4 RBBP7 RBL1 RBL2
3 cell cycle GO:0007049 9.76 CCND1 CDK4 E2F1 RB1 RBBP4 RBBP8
4 regulation of mitotic cell cycle GO:0007346 9.7 RB1 RBL1 RBL2
5 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.63 RB1 RBL1 RBL2
6 G1/S transition of mitotic cell cycle GO:0000082 9.62 CCND1 CDK4 RB1 RBBP8
7 negative regulation of G0 to G1 transition GO:0070317 9.56 E2F1 RBBP4 RBBP7 RBBP8
8 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.55 MIR320A MIR34A
9 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.54 CCND1 E2F1
10 positive regulation of connective tissue replacement GO:1905205 9.49 MIR34A MIR34B
11 cellular response to xenobiotic stimulus GO:0071466 9.43 E2F1 RB1
12 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.37 E2F1 RB1
13 regulation of cell cycle GO:0051726 9.17 CCND1 CDK4 E2F1 RB1 RBBP4 RBL1
14 regulation of lipid kinase activity GO:0043550 9.13 RB1 RBL1 RBL2
15 regulation of transcription, DNA-templated GO:0006355 10.21 CCND1 DDX1 E2F1 PRDM2 RB1 RBBP4
16 transcription, DNA-templated GO:0006351 10.16 CCND1 DDX1 E2F1 PRDM2 RB1 RBBP4

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

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase regulator activity GO:0016538 9.16 CCND1 CDK4
2 RNA polymerase II activating transcription factor binding GO:0001102 9.13 RB1 RBL1 RBL2
3 RNA polymerase II regulatory region DNA binding GO:0001012 8.8 RB1 RBL1 RBL2

Sources for Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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