RB
MCID: RTN024
MIFTS: 74

Retinoblastoma (RB) malady

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

Aliases & Classifications for Retinoblastoma

Aliases & Descriptions for Retinoblastoma:

Name: Retinoblastoma 54 12 71 23 50 24 25 56 29 13 52 14 69
Trilateral Retinoblastoma 12 29 14 69
Rb 12 50 25 66
Glioma, Retinal 71 25
Childhood Cancer Retinoblastoma 66
Malignant Neoplasm of Retina 69
Retinoblastoma, Trilateral 54
Eye Cancer, Retinoblastoma 50
Neuroblastoma of Retina 12
Rb - Retinoblastoma 12
Retinal Neoplasms 69
Retinal Cancer 50
Retinal Tumor 50

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23

GeneReviews:

23
Penetrance See genotype-phenotype correlations...

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 180200
Disease Ontology 12 DOID:4647 DOID:768
MeSH 42 D012175
NCIt 47 C6956 C7541
Orphanet 56 ORPHA790
MESH via Orphanet 43 D012175
UMLS via Orphanet 70 C0035335
ICD10 via Orphanet 34 C69.2
MedGen 40 C1867262
UMLS 69 C0035335

Summaries for Retinoblastoma

NIH Rare Diseases : 50 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 trilateral retinoblastoma, is related to extraocular retinoblastoma and intraocular 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 ERK Signaling and Gene Expression. The drugs Ibrance and Tasigna have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and breast, and related phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and growth/size/body region

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.

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.

OMIM : 54 Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood... (180200) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 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 231)
id Related Disease Score Top Affiliating Genes
1 extraocular retinoblastoma 32.5 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
2 intraocular retinoblastoma 12.2
3 bilateral retinoblastoma 12.2
4 unilateral retinoblastoma 12.2
5 familial retinoblastoma 12.1
6 pediatric intraocular retinoblastoma 12.0
7 pediatric extraocular retinoblastoma 12.0
8 non-hereditary retinoblastoma 11.8
9 roberts syndrome 11.5
10 ocular cancer 11.1
11 blastoma 11.0
12 retinal cancer 11.0
13 respiratory bronchiolitis-interstitial lung disease syndrome 10.8
14 sc phocomelia syndrome 10.8
15 retinal disease 10.7
16 chromosome 13q14 deletion syndrome 10.7
17 norrie disease 10.7
18 hiv-1 10.3
19 osteomyelitis 10.3 CDK4 MDM2 RB1
20 apocrine sweat gland neoplasm 10.3 CDK4 MDM2 RB1
21 rommen mueller sybert syndrome 10.3 CDK4 MDM2
22 cervical verrucous carcinoma 10.3 CCND1 MDM2 RB1
23 episodic ataxia 10.2 CCND1 CDK4 MDM2
24 primary eye hypotony 10.2 CDK4 MDM2
25 amelogenesis imperfecta-gingival hyperplasia syndrome 10.2 CDK4 MDM2
26 indolent systemic mastocytosis 10.2 RB1 RBL1
27 adult astrocytic tumour 10.2 CDK4 E2F1 MDM2 RB1
28 breast cancer 10.2
29 placenta praevia 10.2 CCND1 CDK4 E2F3 MDM2 RB1
30 retinitis 10.1
31 neuronitis 10.1
32 prostatitis 10.1
33 lung cancer 10.1
34 squamous cell carcinoma 10.1
35 melanoma 10.1
36 leukemia 10.1
37 ectodermal dysplasia 10.1 CCND1 CDK4 MDM2
38 melanoma metastasis 10.0 CCND1 CCND3 CDK4 MDM2
39 sarcoma 10.0
40 lymphoma 10.0
41 adenocarcinoma 10.0
42 cervicitis 10.0
43 prostate cancer 9.9
44 endotheliitis 9.9
45 cellulitis 9.9
46 thyroiditis 9.9
47 leiomyosarcoma 9.9
48 orbital cellulitis 9.9
49 hepatocellular carcinoma 9.9
50 esophagitis 9.9

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to Retinoblastoma

Symptoms & Phenotypes for Retinoblastoma

Symptoms by clinical synopsis from OMIM:

180200

Clinical features from OMIM:

180200

Human phenotypes related to Retinoblastoma:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinoblastoma 56 32 Very frequent (99-80%) HP:0009919
2 cleft palate 32 HP:0000175
3 lymphoma 32 HP:0002665
4 osteosarcoma 32 HP:0002669
5 leukocoria 32 HP:0000555
6 leukemia 32 HP:0001909
7 pinealoma 32 HP:0010799
8 vitritis 32 HP:0011531
9 vitreous hemorrhage 32 HP:0007902
10 retinal calcification 32 HP:0007862
11 ewing's sarcoma 32 HP:0012254

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

26
id 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:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 E2F3 E2F4 MDM2 RB1 RBBP7 RBL1
2 cellular MP:0005384 10.35 ARID4A CCND1 CDK4 E2F1 E2F2 E2F3
3 mortality/aging MP:0010768 10.34 ARID4A CCND1 CCND3 CDK4 DDX1 E2F1
4 cardiovascular system MP:0005385 10.32 ARID4A CCND1 CCND3 CDK4 E2F1 E2F3
5 endocrine/exocrine gland MP:0005379 10.31 RBL2 ARID4A CCND1 CCND3 CDK4 E2F1
6 embryo MP:0005380 10.29 CDK4 E2F1 E2F3 E2F4 MDM2 RB1
7 immune system MP:0005387 10.27 ARID4A CCND1 CCND3 RBBP8 RBL1 CDK4
8 integument MP:0010771 10.22 ARID4A CCND1 CDK4 E2F1 E2F2 E2F3
9 neoplasm MP:0002006 10.22 ARID4A CCND1 CCND3 CDK4 E2F1 E2F4
10 hematopoietic system MP:0005397 10.21 ARID4A CCND1 CCND3 CDK4 E2F1 E2F2
11 digestive/alimentary MP:0005381 10.16 CCND1 CDK4 E2F1 E2F3 E2F4 MDM2
12 craniofacial MP:0005382 10.11 RBL1 RBL2 CCND1 E2F4 MDM2 RB1
13 normal MP:0002873 10.11 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
14 liver/biliary system MP:0005370 10 ARID4A CCND3 CDK4 E2F2 MDM2 RB1
15 reproductive system MP:0005389 9.96 ARID4A CCND1 CDK4 E2F1 E2F3 E2F4
16 renal/urinary system MP:0005367 9.87 ARID4A CDK4 E2F2 MDM2 RB1 RBL1
17 respiratory system MP:0005388 9.85 CCND1 CCND3 E2F1 ARID4A E2F2 E2F3
18 skeleton MP:0005390 9.65 RBBP7 RBL1 RBL2 ARID4A CCND1 E2F1
19 vision/eye MP:0005391 9.28 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3

Drugs & Therapeutics for Retinoblastoma

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Ibrance 17 46 PALBOCICLIB Pfizer Approved February 2015
2
Tasigna 17 46 NILOTINIB HYDROCHLORIDE MONOHYDRATE Novartis Approved October 2007
3
Kalydeco 17 IVACAFTOR Vertex Pharmaceuticals Approved January of 2012

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

(show top 50) (show all 149)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2 2068-78-2, 57-22-7 5978
2
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
3
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
5
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
6
Lenograstim Approved Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
7
Nicotine Approved Phase 4 54-11-5 942 89594
8
Ginseng Approved, Nutraceutical Phase 4,Phase 2 50647-08-0
9 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
10 Etoposide phosphate Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1
14
Curcumin Phase 4 458-37-7 969516
15 Hydroxyitraconazole Phase 4
16 Ibandronic acid Phase 4
17 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1
18 Steroid Synthesis Inhibitors Phase 4,Phase 2,Phase 1
19 Cytochrome P-450 CYP3A Inhibitors Phase 4
20 Cytochrome P-450 Enzyme Inhibitors Phase 4
21 Hormone Antagonists Phase 4,Phase 2,Phase 1
22 Diphosphonates Phase 4
23 Hormones Phase 4,Phase 2,Phase 1
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1
25 Antifungal Agents Phase 4,Phase 2,Phase 1
26 Liver Extracts Phase 4,Phase 2,Phase 1
27 Bone Density Conservation Agents Phase 4,Phase 2
28
Allantoin Nutraceutical Phase 4 97-59-6 204
29
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
30
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
31
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1 119413-54-6, 123948-87-8 60700
32
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
33
Mesna Approved Phase 3,Phase 2,Phase 1 3375-50-6 598
34
Thiotepa Approved Phase 3,Phase 2,Phase 1 52-24-4 5453
35
Doxil Approved June 1999 Phase 3,Phase 2 31703
36 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
37
Iodine Phase 3,Phase 2,Phase 1 7553-56-2 807
38 cadexomer iodine Phase 3,Phase 2,Phase 1
39 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
40 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1
41 Trace Elements Phase 3,Phase 2
42 Anesthetics Phase 3,Phase 2
43 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1
44 Anti-Infective Agents, Local Phase 3,Phase 2
45 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
46 Micronutrients Phase 3,Phase 2
47 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
48 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Early Phase 1
49
Ranibizumab Approved Phase 2,Phase 1 347396-82-1 459903
50
Dexamethasone Approved, Investigational, Vet_approved Phase 2,Phase 1 50-02-2 5743

Interventional clinical trials:

(show top 50) (show all 114)
id Name Status NCT ID Phase
1 CEV With/Without Periocular Carboplatin Chemotherapy for Extraocular Retinoblastoma Completed NCT02319486 Phase 4
2 Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation Completed NCT00336531 Phase 4
3 Prospective Study of Profile of Hepatic Osteodystrophy in Patients With Non-Choleastatic Liver Cirrhosis and Impact of Bisphosphonate Supplementation Completed NCT02249741 Phase 4
4 The Efficacy and Safety of New Herbal Formula (KBMSI-2) in the Treatment of Erectile Dysfunction Completed NCT02413099 Phase 4
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
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
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
10 Neoadjuvant Carboplatin and Vincristine and Standard Local Ophthalmic Therapy in Treating Patients With Intraocular Retinoblastoma Completed NCT00079417 Phase 3
11 Vincristine, Carboplatin, and Etoposide or Observation Only in Treating Patients Who Have Undergone Surgery for Newly Diagnosed Retinoblastoma Completed NCT00335738 Phase 3
12 Adjuvant Chemotherapy for High-risk Retinoblastoma After Enucleation Recruiting NCT01906814 Phase 3
13 Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3
14 Study of Treatment for Patients With Cancer of the Eye -Retinoblastoma Active, not recruiting NCT00186888 Phase 3
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
17 Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2
18 Efficacy and Safety of Fufangdanshen Tablets in Mild to Moderate Vascular Dementia Unknown status NCT01761227 Phase 2
19 Chemotherapy in Treating Patients With Retinoblastoma Completed NCT00002675 Phase 2
20 Carboplatin Plus Vincristine in Treating Children With Retinoblastoma Completed NCT00002794 Phase 2
21 Combination Chemotherapy, Radiation Therapy, and Bone Marrow Transplantation in Treating Patients With Retinoblastoma Completed NCT00004006 Phase 2
22 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
23 Cyclin Dependent Kinase (CDK)4/6 Inhibitor, PD0332991 in Advanced Non-small Cell Lung Cancer NSCLC. Completed NCT01291017 Phase 2
24 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2
25 High-Dose Thiotepa Plus Peripheral Stem Cell Transplantation in Treating Patients With Refractory Solid Tumors Completed NCT00003173 Phase 2
26 Arsenic Trioxide in Treating Patients With Advanced Neuroblastoma or Other Childhood Solid Tumors Completed NCT00024258 Phase 2
27 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
28 Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer Completed NCT00002515 Phase 2
29 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
30 Intra-arterial Chemotherapy for Children With Retinoblastoma Recruiting NCT00906113 Phase 1, Phase 2
31 Protocol for the Study and Treatment of Participants With Intraocular Retinoblastoma Recruiting NCT01783535 Phase 2
32 Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated (RB SFCE 2009) Recruiting NCT02870907 Phase 2
33 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2
34 Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2
35 Phase II Trial of Palbociclib in Patients With Metastatic Urothelial Cancer After Failure of First-Line Chemotherapy Recruiting NCT02334527 Phase 2
36 Enzalutamide With and Without Ribociclib for Metastatic, Castrate-Resistant, Chemotherapy-Naive Prostate Cancer That Retains RB Expression Recruiting NCT02555189 Phase 1, Phase 2
37 A Phase I/II Study of Ribociclib,a CDK4/6 Inhibitor, Following Radiation Therapy Recruiting NCT02607124 Phase 1, Phase 2
38 Efficacy and Safety of PD-0332991 in Patients With Advanced Gastrointestinal Stromal Tumors Refractory to Imatinib and Sunitinib Recruiting NCT01907607 Phase 2
39 PErsonalized TREatment of High-risk MAmmary Cancer - the PETREMAC Trial Recruiting NCT02624973 Phase 2
40 Trial of Topotecan With VX-970, an ATR Kinase Inhibitor, in Small Cell Cancers Recruiting NCT02487095 Phase 1, Phase 2
41 Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma Active, not recruiting NCT00110110 Phase 2
42 A Phase II Study of Androgen Deprivation Therapy With or Without Palbociclib in RB-Positive Metastatic Prostate Cancer Active, not recruiting NCT02059213 Phase 2
43 A Trial to Assess the Activity and Safety of Palbociclib in Patients With Well and Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors (pNET) Active, not recruiting NCT02806648 Phase 2
44 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
45 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
46 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
47 Palbociclib With Cetuximab and IMRT for Locally Advanced Squamous Cell Carcinoma Not yet recruiting NCT03024489 Phase 1, Phase 2
48 Phase II Study Temozolomide for Retinoblastoma Metastatic to the Central Nervous System for Patients From Guatemala Terminated NCT01857752 Phase 2
49 Intra-arterial Chemotherapy for the Treatment of Intraocular Retinoblastoma Terminated NCT01293539 Phase 2
50 Proton Beam Radiation Therapy for Intraocular and Periocular Retinoblastoma Terminated NCT00432445 Phase 2

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

id Genetic test Affiliating Genes
1 Retinoblastoma, Trilateral 29
2 Retinoblastoma 29 24 RB1

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

39
Eye, Retina, Breast, Lung, Prostate, Testes, Pineal

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 2483)
id Title Authors Year
1
Retinoblastoma cells activate the AKT pathway and are vulnerable to the PI3K/mTOR inhibitor NVP-BEZ235. ( 28445155 )
2017
2
Folate Decorated Nanomicelles Loaded with a Potent Curcumin Analogue for Targeting Retinoblastoma. ( 28420213 )
2017
3
Treatments for Retinoblastoma Then and Now. ( 28030718 )
2017
4
EpCAM antibody-conjugated mesoporous silica nanoparticles to enhance the anticancer efficacy of carboplatin in retinoblastoma. ( 28482574 )
2017
5
MicroRNA-215 enhances invasion and migration by targeting retinoblastoma tumor suppressor gene 1 in high-grade glioma. ( 27837373 )
2017
6
Long non-coding RNA CCAT1 promotes human retinoblastoma SO-RB50 and Y79 cells through negative regulation of miR-218-5p. ( 28088735 )
2017
7
RETINOBLASTOMA RELATED1 mediates germline entry in Arabidopsis. ( 28450583 )
2017
8
Related visual impairment to mother-infant interaction and development in infants with bilateral retinoblastoma. ( 28478852 )
2017
9
A polymorphism in mir-34b/c as a potential biomarker for early onset of hereditary retinoblastoma. ( 28106538 )
2017
10
Intraocular Pressure Changes Following Intravitreal Melphalan and Topotecan for the Treatment of Retinoblastoma With Vitreous Seeding. ( 28092395 )
2017
11
A multidisciplinary approach to improving the care and outcomes of patients with retinoblastoma at a pediatric cancer hospital in Egypt. ( 28085527 )
2017
12
Proliferative Vitreoretinopathy in Treated Retinoblastoma. ( 28435935 )
2017
13
Tetramethylpyrazine-mediated regulation of CXCR4 in retinoblastoma is sensitive to cell density. ( 28447713 )
2017
14
MiR-26a downregulates retinoblastoma in colorectal cancer. ( 28443472 )
2017
15
Reduction of the tumorigenic potential of human retinoblastoma cell lines by TFF1 overexpression involves p53/caspase signaling and miR-18a regulation. ( 28481041 )
2017
16
L1 increases adhesion-mediated proliferation and chemoresistance of retinoblastoma. ( 28061460 )
2017
17
Reduction of severe visual loss and complications following intra-arterial chemotherapy (IAC) for refractory retinoblastoma. ( 28432112 )
2017
18
Efficacy and Toxicity of Intravitreous Chemotherapy for Retinoblastoma: Four-Year Experience. ( 28089679 )
2017
19
Enhanced cytotoxic activity of AgNPs on retinoblastoma Y79 cell lines synthesised using marine seaweed Turbinaria ornata. ( 28476956 )
2017
20
SOST silencing promotes proliferation and invasion and reduces apoptosis of retinoblastoma cells by activating Wnt/I^-catenin signaling pathway. ( 28485721 )
2017
21
Intra-arterial chemotherapy for retinoblastoma: Two-year results from tertiary eye-care center in India. ( 28513496 )
2017
22
Functional dissection of the role of UHRF1 in the regulation of retinoblastoma methylome. ( 28467809 )
2017
23
Analysis of aqueous humor concentrations of cytokines in retinoblastoma. ( 28486560 )
2017
24
Case Report: A Low-grade Uterine Leiomyosarcoma Showing Multiple Genetic Aberrations Including a Bi-allelic Loss of the Retinoblastoma Gene Locus, as well as Germ-line Uniparental Disomy for Part of the Long Arm of Chromosome 22. ( 28476787 )
2017
25
Ocular oncology: advances in retinoblastoma, uveal melanoma and conjunctival melanoma. ( 28069617 )
2017
26
Vitreous Seeds in Retinoblastoma: Clinicopathologic Classification and Correlation. ( 28528011 )
2017
27
MiR-613 suppresses retinoblastoma cell proliferation, invasion, and tumor formation by targeting E2F5. ( 28351331 )
2017
28
Overexpression of pyruvate dehydrogenase kinase 1 in retinoblastoma: A potential therapeutic opportunity for targeting vitreous seeds and hypoxic regions. ( 28505181 )
2017
29
Psychosocial determinants for treatment decisions in familial retinoblastoma. ( 28085520 )
2017
30
Conservation and divergence of C-terminal domain structure in the retinoblastoma protein family. ( 28439018 )
2017
31
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
32
Evolution of Chemotherapy Approaches for the Treatment of Intraocular Retinoblastoma: A Comprehensive Review. ( 27898618 )
2017
33
Long-term Visual Acuity, Strabismus and Nystagmus Outcomes Following Multimodality Treatment in Group D Retinoblastoma Eyes. ( 28501391 )
2017
34
Ocular Salvage and Vision Preservation Using a Topotecan-Based Regimen for Advanced Intraocular Retinoblastoma. ( 28034080 )
2017
35
Pioglitazone inhibits growth of human retinoblastoma cells via regulation of NF-I_B inflammation signals. ( 27133446 )
2016
36
Proteomic analysis of differentially expressed proteins in vitreous humor of patients with retinoblastoma using iTRAQ-coupled ESI-MS/MS approach. ( 27488116 )
2016
37
Alteration in Methylation Pattern of Retinoblastoma 1 Gene Promotor Region in Intestinal Metaplasia with or without Helicobacter pylori and Gastric Cancer Patients. ( 27629734 )
2016
38
Hereditary Diffuse Infiltrating Retinoblastoma. ( 24892564 )
2016
39
Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. ( 27582626 )
2016
40
Downregulation of HDAC9 inhibits cell proliferation and tumor formation by inducing cell cycle arrest in retinoblastoma. ( 27033599 )
2016
41
d-3-Deoxy-dioctanoylphosphatidylinositol induces cytotoxicity in human MCF-7 breast cancer cells via a mechanism that involves downregulation of the D-type cyclin-retinoblastoma pathway. ( 27600289 )
2016
42
Ablating all three retinoblastoma family members in mouse lung leads to neuroendocrine tumor formation. ( 27966456 )
2016
43
Immunohistochemical analysis of retinoblastoma cell phenotype using neuronal and glial cell markers. ( 28076568 )
2016
44
Combination of genetic variants in cyclin D1 and retinoblastoma genes predict clinical outcome in oral cancer patients. ( 26459309 )
2016
45
Therapeutic Options for Retinoblastoma. ( 27218786 )
2016
46
A gene expression signature of Retinoblastoma loss-of-function is a predictive biomarker of resistance to palbociclib in breast cancer cell lines and is prognostic in patients with ER positive early breast cancer. ( 27634906 )
2016
47
Forced Trefoil Factor Family Peptide 3 (TFF3) Expression Reduces Growth, Viability, and Tumorigenicity of Human Retinoblastoma Cell Lines. ( 27626280 )
2016
48
Long non-coding RNA HOTAIR regulates proliferation and invasion via activating Notch signalling pathway in retinoblastoma. ( 27966488 )
2016
49
Pharmaceutically inhibiting polo-like kinase 1 exerts a broad anti-tumour activity in retinoblastoma cell lines. ( 27647547 )
2016
50
Curcumin exerts antitumor effects in retinoblastoma cells by regulating the JNK and p38 MAPK pathways. ( 27432244 )
2016

Variations for Retinoblastoma

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

66 (show all 22)
id 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
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 116)
id 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 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 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.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs398123331 GRCh37 Chromosome 13, 48954198: 48954198
27 RB1 NM_000321.2(RB1): c.1585dupT (p.Tyr529Leufs) duplication Pathogenic rs398123332 GRCh37 Chromosome 13, 48955469: 48955469
28 RB1 NM_000321.2(RB1): c.2067_2079delGAATGAGTATGAAinsCAC (p.Gln689Hisfs) indel Pathogenic rs398123333 GRCh37 Chromosome 13, 49033930: 49033942
29 RB1 NM_000321.2(RB1): c.1961-2A> T single nucleotide variant Pathogenic rs587778867 GRCh37 Chromosome 13, 49033822: 49033822
30 RB1 NM_000321.2(RB1): c.1973C> A (p.Ala658Asp) single nucleotide variant Pathogenic rs587778834 GRCh37 Chromosome 13, 49033836: 49033836
31 RB1 NM_000321.2(RB1): c.2101G> A (p.Asp701Asn) single nucleotide variant Pathogenic rs587778859 GRCh37 Chromosome 13, 49033964: 49033964
32 RB1 NM_000321.2(RB1): c.1723C> T (p.Gln575Ter) single nucleotide variant Pathogenic rs587778864 GRCh37 Chromosome 13, 49027156: 49027156
33 RB1 NM_000321.2(RB1): c.1735C> T (p.Arg579Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913305 GRCh37 Chromosome 13, 49027168: 49027168
34 RB1 NM_000321.2(RB1): c.1738G> T (p.Glu580Ter) single nucleotide variant Pathogenic rs587778858 GRCh37 Chromosome 13, 49027171: 49027171
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.1927A> G (p.Lys643Glu) single nucleotide variant Pathogenic rs587778866 GRCh37 Chromosome 13, 49030452: 49030452
39 RB1 NM_000321.2(RB1): c.1960+5G> A single nucleotide variant Pathogenic rs587778871 GRCh37 Chromosome 13, 49030490: 49030490
40 RB1 NM_000321.2(RB1): c.2107-1G> C single nucleotide variant Pathogenic rs587778860 GRCh37 Chromosome 13, 49037866: 49037866
41 RB1 NM_000321.2(RB1): c.2164A> T (p.Lys722Ter) single nucleotide variant Pathogenic rs587778849 GRCh37 Chromosome 13, 49037924: 49037924
42 RB1 NM_000321.2(RB1): c.2197C> T (p.His733Tyr) single nucleotide variant Pathogenic rs587778835 GRCh37 Chromosome 13, 49037957: 49037957
43 RB1 NM_000321.2(RB1): c.2209G> T (p.Glu737Ter) single nucleotide variant Pathogenic rs587778868 GRCh37 Chromosome 13, 49037969: 49037969
44 RB1 NG_009009.1: g.1662319T> A single nucleotide variant Pathogenic
45 RB1 NM_000321.2(RB1): c.2227_2230dupTTGA (p.Lys745Aspfs) duplication Pathogenic rs587778836 GRCh37 Chromosome 13, 49039149: 49039152
46 RB1 NM_000321.2(RB1): c.2247T> A (p.Tyr749Ter) single nucleotide variant Pathogenic rs587778861 GRCh37 Chromosome 13, 49039169: 49039169
47 RB1 NG_009009.1: g.166501C> G single nucleotide variant Pathogenic
48 RB1 NM_000321.2(RB1): c.2453delG (p.Gly818Valfs) deletion Pathogenic rs587778837 GRCh37 Chromosome 13, 49039468: 49039468
49 RB1 NM_000321.2(RB1): c.2490-1G> A single nucleotide variant Pathogenic rs587778838 GRCh37 Chromosome 13, 49047495: 49047495
50 RB1 NM_000321.2(RB1): c.2520+1G> A single nucleotide variant Pathogenic rs587778850 GRCh37 Chromosome 13, 49047527: 49047527

Cosmic variations for Retinoblastoma:

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

Copy number variations for Retinoblastoma from CNVD:

7 (show top 50) (show all 60)
id 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 GeneCards Suite gene sharing:

(show top 50) (show all 63)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
2
Show member pathways
13.85 DDX1 E2F1 E2F4 MDM2 RBBP4 RBBP7
3
Show member pathways
13.75 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
4
Show member pathways
13.47 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
5
Show member pathways
13.24 CDK4 E2F1 E2F2 E2F3 MDM2 RB1
6
Show member pathways
13.1 E2F1 E2F4 MDM2 RBBP4 RBBP7 RBBP8
7
Show member pathways
13.09 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
8
Show member pathways
13.04 ARID4A CCND1 CDK4 RBBP4 RBBP5 RBBP7
9
Show member pathways
12.96 CCND1 CDK4 E2F1 E2F2 E2F3 RB1
10 12.79 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
11
Show member pathways
12.78 CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
12
Show member pathways
12.7 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
13 12.65 CCND1 CCND3 CDK4 E2F1 MDM2 RB1
14 12.64 CCND1 CCND3 CDK4 MDM2 RBL2
15 12.59 CCND1 CCND3 CDK4 E2F1 E2F4 RB1
16 12.58 CCND1 E2F1 E2F2 E2F3 MDM2
17 12.57 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
18
Show member pathways
12.54 E2F1 E2F2 E2F3 E2F4 RB1
19
Show member pathways
12.49 CCND1 CCND3 CDK4 E2F1 MDM2 RB1
20 12.46 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
21 12.45 CCND1 CCND3 CDK4 MDM2 RB1 RBL1
22
Show member pathways
12.43 CCND1 CCND3 CDK4 RB1
23
Show member pathways
12.43 CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
24
Show member pathways
12.4 CCND1 CCND3 CDK4 E2F1 E2F4 RB1
25
Show member pathways
12.34 CCND1 CCND3 CDK4 E2F1 E2F2 E2F4
26
Show member pathways
12.27 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
27 12.25 CCND1 CDK4 E2F1 MDM2 RB1
28
Show member pathways
12.25 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
29 12.19 CCND1 E2F4 RBL1 RBL2 TFDP1
30 12.18 E2F1 E2F4 RB1 RBL1 RBL2
31
Show member pathways
12.16 PRDM2 RBBP4 RBBP5 RBBP7
32 12.14 CCND1 CCND3 CDK4 MDM2
33
Show member pathways
12.1 CCND1 E2F1 E2F3 TFDP1
34 12.1 CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
35 12.07 CCND1 CDK4 E2F1 RB1
36 12.05 CCND1 CCND3 MDM2 RBL2
37
Show member pathways
12.05 E2F1 E2F4 RBL1 RBL2 TFDP1
38 12 CCND1 CDK4 E2F1 E2F2 E2F3 RB1
39
Show member pathways
11.99 E2F1 E2F2 E2F3 E2F4 RB1 RBBP8
40
Show member pathways
11.96 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
41 11.93 E2F1 MDM2 RB1
42 11.92 CDK4 RBBP4 RBBP7 RBL1 TFDP1
43 11.9 CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
44 11.86 CCND1 MDM2 RB1
45 11.86 CCND3 CDK4 E2F1 RB1 RBL2
46 11.82 E2F4 RBL1 TFDP1
47 11.81 E2F1 MDM2 RB1 RBBP4 RBBP7
48 11.79 CCND1 E2F1 RBBP4 RBBP7
49 11.76 E2F4 MDM2 RB1 RBBP4 TFDP1
50
Show member pathways
11.76 E2F4 RB1 RBBP4 RBBP7 RBL1 RBL2

GO Terms for Retinoblastoma

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

id 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 9.54 ARID4A CCND1 RBBP8
4 ESC/E(Z) complex GO:0035098 9.43 RBBP4 RBBP7
5 cyclin-dependent protein kinase holoenzyme complex GO:0000307 9.43 CCND1 CCND3 CDK4
6 NuRD complex GO:0016581 9.4 RBBP4 RBBP7
7 Rb-E2F complex GO:0035189 9.32 E2F1 RB1
8 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)
id Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 9.95 RB1 RBBP4 RBBP5 RBBP7 RBL1 RBL2
2 regulation of cell proliferation GO:0042127 9.92 CCND3 CDK4 E2F4 RBBP9
3 negative regulation of gene expression GO:0010629 9.9 MDM2 RB1 RBL1 RBL2
4 regulation of signal transduction by p53 class mediator GO:1901796 9.84 MDM2 RBBP4 RBBP7 RBBP8
5 G1/S transition of mitotic cell cycle GO:0000082 9.81 CCND1 CDK4 RB1 RBBP8
6 histone deacetylation GO:0016575 9.77 ARID4A RBBP4 RBBP7
7 positive regulation of cell cycle GO:0045787 9.75 CCND1 CDK4 MDM2
8 response to steroid hormone GO:0048545 9.72 CCND1 MDM2 RBBP7
9 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.72 E2F1 E2F4 MDM2 RBL2 TFDP1
10 negative regulation of cell cycle arrest GO:0071157 9.67 CCND1 CDK4 MDM2
11 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.67 E2F1 E2F4 RB1 TFDP1
12 response to iron ion GO:0010039 9.65 CCND1 MDM2
13 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.65 CCND1 E2F1
14 response to magnesium ion GO:0032026 9.64 CCND1 MDM2
15 anoikis GO:0043276 9.63 E2F1 TFDP1
16 regulation of insulin receptor signaling pathway GO:0046626 9.63 CCND3 CDK4
17 cell cycle checkpoint GO:0000075 9.62 RB1 RBBP8
18 negative regulation of fat cell proliferation GO:0070345 9.61 E2F1 E2F3 TFDP1
19 regulation of cell cycle GO:0051726 9.61 CCND1 CCND3 CDK4 E2F1 E2F2 RB1
20 cellular response to xenobiotic stimulus GO:0071466 9.58 E2F1 RB1
21 regulation of lipid kinase activity GO:0043550 9.58 RB1 RBL1 RBL2
22 lens fiber cell apoptotic process GO:1990086 9.57 E2F1 E2F2
23 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.52 E2F1 RB1
24 cell cycle GO:0007049 9.44 CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
25 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.15 ARID4A E2F1 E2F4 PRDM2 RB1 RBL1
26 regulation of transcription, DNA-templated GO:0006355 10.13 ARID4A CCND1 DDX1 E2F1 E2F2 E2F3
27 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.06 CCND1 CCND3 E2F1 MDM2 RB1 RBBP7
28 negative regulation of transcription, DNA-templated GO:0045892 10.04 ARID4A E2F1 MDM2 RB1 RBBP7
29 regulation of transcription from RNA polymerase II promoter GO:0006357 10.03 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 10.01 CCND1 CCND3 CDK4 RB1 RBBP8

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.9 ARID4A DDX1 E2F1 E2F2 E2F3 E2F4
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.86 ARID4A E2F1 E2F2 E2F3 E2F4 PRDM2
3 protein dimerization activity GO:0046983 9.76 E2F1 E2F2 E2F3 E2F4
4 histone deacetylase activity GO:0004407 9.61 ARID4A RBBP4 RBBP7
5 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.58 CCND1 CCND3 CDK4
6 promoter-specific chromatin binding GO:1990841 9.5 E2F4 RBL1 RBL2
7 cyclin-dependent protein serine/threonine kinase regulator activity GO:0016538 9.48 CCND1 CDK4
8 core promoter binding GO:0001047 9.26 E2F1 E2F2 E2F3 RB1
9 transcription factor binding GO:0008134 9.17 CCND1 E2F1 E2F2 E2F4 RB1 RBL1
10 protein binding GO:0005515 10.32 CCND1 CCND3 CDK4 DDX1 E2F1 E2F2

Sources for Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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