RB
MCID: RTN024
MIFTS: 72

Retinoblastoma (RB)

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

Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Name: Retinoblastoma 58 12 77 25 54 26 60 38 30 13 56 6 15 41 17 74
Rb 58 12 54 26 76
Retinoblastoma, Trilateral 58 30 6
Trilateral Retinoblastoma 12 15 74
Childhood Cancer Retinoblastoma 76
Non-Hereditary Retinoblastoma 60
Malignant Neoplasm of Retina 74
Eye Cancer, Retinoblastoma 54
Hereditary Retinoblastoma 60
Neuroblastoma of Retina 12
Rb - Retinoblastoma 12
Retinal Neoplasms 74
Glioma, Retinal 26
Retinal Cancer 54
Retinal Tumor 54
Rb1 58

Characteristics:

Orphanet epidemiological data:

60
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;
non-hereditary retinoblastoma
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age;
hereditary retinoblastoma
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
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:

33

GeneReviews:

25
Penetrance See genotype-phenotype correlations...

Classifications:

Orphanet: 60  
Rare eye diseases


Summaries for Retinoblastoma

NIH Rare Diseases : 54 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 bilateral retinoblastoma and unilateral 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 Etoposide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and prostate, and related phenotypes are retinoblastoma and vitritis

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 : 26 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 : 58 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 : 76 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 : 77 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 481)
# Related Disease Score Top Affiliating Genes
1 bilateral retinoblastoma 34.5 MYCN RB1 RBL1
2 unilateral retinoblastoma 34.5 RB1 RBL1
3 familial retinoblastoma 34.0 MYCN RB1
4 ocular cancer 32.8 CDK4 E2F1 PRDM2 RB1 RBL1 RBL2
5 retinal cancer 32.7 CDK4 E2F1 PRDM2 RB1 RBBP4 RBL1
6 nervous system cancer 32.2 CDK4 MYCN RB1 RBL1 RBL2
7 brain cancer 32.0 CDK4 MYCN RB1 RBBP4
8 periosteal chondrosarcoma 31.9 CDK4 RB1
9 adamantinoma of long bones 31.7 CCAT1 CDK4 HOTAIR MALAT1 MEG3 RB1
10 small cell cancer of the lung 30.8 HOTAIR MALAT1 MYCN RB1
11 bladder cancer 30.5 BANCR CDK4 HOTAIR MALAT1 MEG3 RB1
12 melanoma 30.4 BANCR CDK4 HOTAIR MALAT1 MEG3 MIR34A
13 osteogenic sarcoma 30.3 BANCR CCAT1 HOTAIR MALAT1 MEG3 RB1
14 glioma 30.2 CCAT1 CDK4 HOTAIR MALAT1 MEG3 MIR34A
15 myeloma, multiple 30.2 CCAT1 CDK4 HOTAIR MALAT1 MEG3
16 cervical cancer 30.2 CCAT1 HOTAIR MALAT1 MEG3 RB1
17 spindle cell lipoma 30.2 CDK4 RB1
18 breast cancer 30.2 CCAT1 CDK4 E2F1 HOTAIR MALAT1 MEG3
19 prostate cancer 30.1 CDK4 E2F1 HOTAIR MALAT1 MEG3 MIR198
20 medulloblastoma 30.1 CCAT1 CDK4 HOTAIR MIR34A MYCN
21 hepatocellular carcinoma 30.0 BANCR CCAT1 CDK4 E2F1 HOTAIR MALAT1
22 ovarian epithelial cancer 30.0 HOTAIR MALAT1 MEG3
23 endometrial cancer 30.0 CCAT1 CDK4 HOTAIR MEG3 RB1
24 lung cancer susceptibility 3 30.0 CCAT1 CDK4 HOTAIR MALAT1 MEG3
25 ovarian cancer 30.0 CCAT1 CDK4 HOTAIR MALAT1 MEG3 MIR34B
26 glioblastoma 29.9 CDK4 E2F1 HOTAIR MALAT1 MEG3 MIR34A
27 pituitary adenoma 29.9 HOTAIR MALAT1 MEG3
28 esophageal cancer 29.9 CCAT1 CDK4 HOTAIR MALAT1 MEG3 MIR34A
29 gastric cancer 29.8 BANCR CCAT1 HOTAIR MALAT1 MEG3 MIR34A
30 bladder urothelial carcinoma 29.8 HOTAIR MALAT1 MEG3 RB1
31 laryngeal squamous cell carcinoma 29.8 CCAT1 HOTAIR MALAT1
32 thyroid cancer, nonmedullary, 1 29.8 BANCR HOTAIR MALAT1 MEG3 MIR34A
33 kidney cancer 29.8 HOTAIR MALAT1 MEG3
34 lung cancer 29.7 BANCR CCAT1 CDK4 E2F1 HOTAIR MALAT1
35 pancreatic cancer 29.7 CCAT1 CDK4 HOTAIR MALAT1 MEG3 MIR34A
36 gallbladder cancer 29.7 CCAT1 HOTAIR MALAT1 MEG3
37 nasopharyngeal carcinoma 29.7 CCAT1 CDK4 HOTAIR MALAT1 MEG3 MIR34B
38 leukemia, acute myeloid 29.5 CCAT1 HOTAIR MALAT1 MEG3 MIR320A MIR34B
39 colorectal cancer 29.4 BANCR CCAT1 CDK4 HOTAIR MALAT1 MEG3
40 oral squamous cell carcinoma 29.3 CCAT1 HOTAIR MALAT1 MEG3 MIR34A MIR34B
41 intraocular retinoblastoma 12.5
42 extraocular retinoblastoma 12.5
43 pediatric intraocular retinoblastoma 12.3
44 pediatric extraocular retinoblastoma 12.3
45 imprinting gene related to retinoblastoma 12.0
46 roberts syndrome 11.9
47 glioblastoma multiforme 11.5
48 respiratory bronchiolitis-interstitial lung disease syndrome 11.4
49 chromosome 13q14 deletion syndrome 11.4
50 embryoma 11.4

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to Retinoblastoma

Symptoms & Phenotypes for Retinoblastoma

Human phenotypes related to Retinoblastoma:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinoblastoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0009919
2 vitritis 33 occasional (7.5%) HP:0011531
3 cleft palate 33 HP:0000175
4 lymphoma 33 HP:0002665
5 osteosarcoma 33 HP:0002669
6 leukocoria 33 HP:0000555
7 leukemia 33 HP:0001909
8 pinealoma 33 HP:0010799
9 vitreous hemorrhage 33 HP:0007902
10 retinal calcification 33 HP:0007862
11 ewing sarcoma 33 HP:0012254

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Retinoblastoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 CDK4 E2F1 MYCN RB1 RBBP7 RBBP8
2 neoplasm MP:0002006 9.17 CDK4 E2F1 PRDM2 RB1 RBBP8 RBL1

Drugs & Therapeutics for Retinoblastoma

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

(show top 50) (show all 205)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
2
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2068-78-2, 57-22-7 5978
3
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 38904 498142
4
Sargramostim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123774-72-1, 83869-56-1
5
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
6
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
8
Allantoin Approved Phase 4 97-59-6 204
9
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
10
Nicotine Approved Phase 4 54-11-5 89594 942
11
Ginseng Approved, Investigational, Nutraceutical Phase 4,Phase 2,Not Applicable 50647-08-0
12 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Etoposide phosphate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Hormone Antagonists 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 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Immunologic Factors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
22 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
23 Cytochrome P-450 CYP3A Inhibitors Phase 4
24 Cytochrome P-450 Enzyme Inhibitors Phase 4
25
Hydroxyitraconazole Phase 4
26 Antifungal Agents Phase 4,Phase 2,Phase 1
27 Bone Density Conservation Agents Phase 4,Phase 2
28 Diphosphonates Phase 4
29 Liver Extracts Phase 4,Phase 2,Phase 1
30 Ibandronic Acid Phase 4
31
Cisplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 2767 441203 84093
32
Palbociclib Approved, Investigational Phase 3,Phase 2,Phase 1 571190-30-2 5005498 11431660 5330286
33
Iodine Approved, Investigational Phase 3,Phase 2,Phase 1 7553-56-2 807
34
Topotecan Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 119413-54-6, 123948-87-8 60700
35
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
36
Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 52-24-4 5453
37
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
38
Mesna Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 3375-50-6 598
39
Letrozole Approved, Investigational Phase 3,Phase 2,Phase 1 112809-51-5 3902
40
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
41
Emodepside Investigational, Vet_approved Phase 3,Phase 2 155030-63-0
42 Immunosuppressive Agents Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
43 Antineoplastic Agents, Alkylating Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
44 Alkylating Agents Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
45 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
46 Nutrients Phase 3,Phase 2
47 Micronutrients Phase 3,Phase 2
48 Anti-Infective Agents, Local Phase 3,Phase 2
49 Trace Elements Phase 3,Phase 2
50 cadexomer iodine Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 143)
# 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 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 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Unknown status NCT01987596 Phase 3
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 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Thiotepa;Vincristine Sulfate
15 Study of Treatment for Patients With Cancer of the Eye -Retinoblastoma Active, not recruiting NCT00186888 Phase 3 Vincristine, Carboplatin;Vincristine and Topotecan;Vincristine + Carboplatin + Etoposide;vincristine, cyclophosphamide, and doxorubicin;Vincristine, Carboplatin and Etoposide
16 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
17 Systemic Chemotherapy and Subtenon Carboplatin, and Local Ophthalmic Therapy in Children With Intraocular Retinoblastoma Terminated NCT00072384 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
18 Intra-arterial Chemotherapy for Children With Retinoblastoma Unknown status NCT00906113 Phase 1, Phase 2 Intra-arterial injection of melphalan;Injection of melphalan into the ophthalmic artery
19 Efficacy Study of Lucentis in the Treatment of Retinoblastoma Unknown status NCT01899066 Phase 2 Lucentis, chemotherapy;chemotherapy
20 Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2 Carboplatin;VP-16
21 Chemotherapy in Treating Patients With Retinoblastoma Completed NCT00002675 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
22 Carboplatin Plus Vincristine in Treating Children With Retinoblastoma Completed NCT00002794 Phase 2 carboplatin;vincristine sulfate
23 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
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 Efficacy and Safety of Fufangdanshen Tablets in Mild to Moderate Vascular Dementia Completed NCT01761227 Phase 2 Fufangdanshen Tablets;Placebo
28 Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma Completed NCT00006102 Phase 2 becatecarin
29 Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease Completed NCT02140814 Phase 2
30 High-Dose Thiotepa Plus Peripheral Stem Cell Transplantation in Treating Patients With Refractory Solid Tumors Completed NCT00003173 Phase 2 thiotepa
31 Arsenic Trioxide in Treating Patients With Advanced Neuroblastoma or Other Childhood Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
32 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
33 Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
34 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
35 Metformin Hydrochloride in Treating Patients With Prostate Cancer Undergoing Surgery Completed NCT01433913 Phase 2 metformin hydrochloride
36 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
37 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 Breast Cancer Completed NCT01684215 Phase 2 PD-0332991;PD-0332991;letrozole;PD-0332991;letrozole
38 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
39 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
40 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
41 Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
42 Anastrozole, Palbociclib, Trastuzumab and Pertuzumab in Her-positive, Her2-positive Metastatic Breast Recruiting NCT03304080 Phase 1, Phase 2 Anastrozole;Palbociclib;Trastuzumab;Pertuzumab
43 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
44 Palbociclib With Cetuximab and IMRT for Locally Advanced Squamous Cell Carcinoma Recruiting NCT03024489 Phase 1, Phase 2 Palbociclib;Palbociclib;Palbociclib;Palbociclib;Cetuximab
45 Molecular Mechanisms of Resistance and Sensitivity to Palbociclib Re-challenge in ER+ mBC Recruiting NCT03184090 Phase 2 Palbociclib;Endocrine therapy (non IMP)
46 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
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 74 / NDF-RT 52 :


Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

# Genetic test Affiliating Genes
1 Retinoblastoma, Trilateral 30
2 Retinoblastoma 30 RB1

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

42
Eye, Retina, Prostate, Brain, Bone, Pituitary, T Cells

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 7311)
# Title Authors Year
1
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. ( 30449636 )
2019
2
Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma. ( 30640396 )
2019
3
The Incidence of Binocular Visual Impairment and Blindness in Children with Bilateral Retinoblastoma. ( 30675470 )
2019
4
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. ( 30822236 )
2019
5
Lens Dose-Response Prediction Modeling and Cataract Incidence in Patients With Retinoblastoma After Lens-Sparing or Whole-Eye Radiation Therapy. ( 30537543 )
2019
6
MSK2 promotes proliferation and tumor formation in squamous cervical cancer via PAX8/RB-E2F1/cyclin A2 axis. ( 30756420 )
2019
7
Correlation between the protein expression levels of A-kinase anchor protein95, p-retinoblastoma (Ser780), cyclin D2/3, and cyclin E2 in esophageal cancer tissues. ( 30990963 )
2019
8
Successful Treatment of Relapsed Isolated Extraocular Retinoblastoma in the Right Fibula With High-dose Chemotherapy and Autologous Stem Cell Transplantation. ( 30933027 )
2019
9
Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1. ( 30963792 )
2019
10
Plasminogen activator inhibitor 2 (PAI2) inhibits invasive potential of hepatocellular carcinoma cells in vitro via uPA- and RB/E2F1-related mechanisms. ( 30600477 )
2019
11
Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome. ( 30712445 )
2019
12
Bilateral advanced (group D or E) intraocular retinoblastoma: outcomes in 72 Asian Indian patients. ( 30932036 )
2019
13
Choroidal Ischemia Sparing the Watershed Zone following Intra-Arterial Chemotherapy for Retinoblastoma. ( 31049327 )
2019
14
Retinoblastoma mutation predicts poor outcomes in advanced non small cell lung cancer. ( 30773851 )
2019
15
Preservation of retinoblastoma group E eyes with neovascular glaucoma using intravenous chemotherapy: risk factors and outcomes. ( 30796055 )
2019
16
Estrogen-independent role of ERα in ovarian cancer progression induced by leptin/Ob-Rb axis. ( 31077012 )
2019
17
Exudative Retinal Detachment Following Intravitreal Chemotherapeutic Treatment for Retinoblastoma. ( 30998248 )
2019
18
Management of retinal detachment in retinoblastoma with globe conserving treatment. ( 30899845 )
2019
19
Spontaneous Regression of Florid Retinal Neovascularization Following Resolution of Traction Retinal Detachment in an Eye With Treated Retinoblastoma. ( 30907974 )
2019
20
The University of California, San Francisco Documentation System for Retinoblastoma: Preparing to Improve Staging Methods for This Disease. ( 30675475 )
2019
21
MicroRNA-361-3p regulates retinoblastoma cell proliferation and stemness by targeting hedgehog signaling. ( 30679988 )
2019
22
Human Papillomavirus Detection Strategies in Retinoblastoma. ( 30685839 )
2019
23
The impact of monocular vision on motor function and quality of life in survivors of retinoblastoma. ( 30688019 )
2019
24
Effects of lentivirus-mediated astrocyte elevated gene-1 overexpression on proliferation and apoptosis of human retinoblastoma cells. ( 30694025 )
2019
25
Patterns of Cause-Specific Mortality Among 2053 Survivors of Retinoblastoma, 1914-2016. ( 30698734 )
2019
26
ANRIL acts as onco-lncRNA by regulation of microRNA-24/c-Myc, MEK/ERK and Wnt/β-catenin pathway in retinoblastoma. ( 30703428 )
2019
27
Intra-Arterial Chemotherapy for Retinoblastoma: 8-Year Experience from a Tertiary Referral Institute in Thailand. ( 30714357 )
2019
28
MicroRNA‑504 targets AEG‑1 and inhibits cell proliferation and invasion in retinoblastoma. ( 30720088 )
2019
29
Retinoblastoma with late metastatic spread-a case report. ( 30724037 )
2019
30
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour. ( 30745306 )
2019
31
Co-delivery of miR-181a and melphalan by lipid nanoparticles for treatment of seeded retinoblastoma. ( 30776396 )
2019
32
Retinoblastoma discordance in families with twins. ( 30777982 )
2019
33
Retinoblastoma 1 (RB1) modulates the proliferation of chicken preadipocytes. ( 30784300 )
2019
34
Knockdown of lncRNA PVT1 inhibits retinoblastoma progression by sponging miR-488-3p. ( 30797143 )
2019
35
Minimally disseminated disease and outcome in overt orbital retinoblastoma. ( 30803140 )
2019
36
Pentoxifylline Enhances the Apoptotic Effect of Carboplatin in Y79 Retinoblastoma Cells. ( 30804118 )
2019
37
Ocular toxicity of intravitreal melphalan for retinoblastoma in Chinese patients. ( 30808420 )
2019
38
Tridimensional Retinoblastoma Cultures as Vitreous Seeds Models for Live-Cell Imaging of Chemotherapy Penetration. ( 30832308 )
2019
39
Orbital relapse of retinoblastoma in patients with high-risk histopathology features. ( 31065625 )
2019
40
FEZF1-AS1 functions as an oncogenic lncRNA in retinoblastoma. ( 31076545 )
2019
41
Racial, Ethnic, and Socioeconomic Disparities in Retinoblastoma Enucleation: A Population-Based Study, SEER 18 2000-2014. ( 31077666 )
2019
42
Retinoblastoma loss in cancer: casting a wider net. ( 31101725 )
2019
43
Intra-arterial chemotherapy for retinoblastoma: an updated systematic review and meta-analysis. ( 31103993 )
2019
44
Retinoblastoma, the visible CNS tumor: A review. ( 29314142 )
2019
45
Etoposide Upregulates Survival Favoring Sphingosine-1-Phosphate in Etoposide-Resistant Retinoblastoma Cells. ( 29143233 )
2019
46
The predictive value of magnetic resonance imaging of retinoblastoma for the likelihood of high-risk pathologic features. ( 29890860 )
2019
47
Intravitreal chemotherapy in retinoblastoma: expanded use beyond intravitreal seeds. ( 29875233 )
2019
48
Knockdown of lncRNA-H19 inhibits cell viability, migration and invasion while promotes apoptosis via microRNA-143/RUNX2 axis in retinoblastoma. ( 30551533 )
2019
49
Long noncoding RNA NEAT1 promotes the growth of human retinoblastoma cells via regulation of miR-204/CXCR4 axis. ( 30479013 )
2019
50
Evidence of predisposing epimutation in retinoblastoma. ( 30427563 )
2019

Variations for Retinoblastoma

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

76 (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 rs105071757
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 1023)
# 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 rs1555285429 GRCh37 Chromosome 13, 48941669: 48941723
19 RB1 NM_000321.2(RB1): c.979_1033dup55 (p.Thr345Lysfs) duplication Pathogenic rs1555285429 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/Likely pathogenic rs587776788 GRCh37 Chromosome 13, 48954318: 48954320
39 RB1 NM_000321.2(RB1): c.1439_1441delACA (p.Asn480del) deletion Pathogenic/Likely 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_65dup (p.Pro23Leufs) duplication Pathogenic rs587776790 GRCh37 Chromosome 13, 48878091: 48878113
47 RB1 NM_000321.2(RB1): c.43_65dup (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 BRCA2 NM_000059.3(BRCA2): c.8972G> A (p.Arg2991His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359150 GRCh37 Chromosome 13, 32953905: 32953905

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 COSM891 RB1 eye,retina,retinoblastoma,NS c.958C>T p.R320* 13:48367512-48367512 0
2 COSM877 RB1 eye,retina,retinoblastoma,NS c.341C>A p.S114* 13:48342675-48342675 0
3 COSM910 RB1 eye,retina,retinoblastoma,NS c.1467C>A p.C489* 13:48380210-48380210 0
4 COSM895 RB1 eye,retina,retinoblastoma,NS c.1363C>T p.R455* 13:48379624-48379624 0
5 COSM1015 RB1 eye,retina,retinoblastoma,NS c.1215+1G>A p.? 13:48373493-48373493 0
6 COSM943 RB1 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 0
7 COSM13117 RB1 eye,retina,retinoblastoma,NS c.2053C>T p.Q685* 13:48459780-48459780 0
8 COSM1636648 RB1 eye,retina,retinoblastoma,NS c.2106+2T>G p.? 13:48459835-48459835 0
9 COSM1014 RB1 eye,retina,retinoblastoma,NS c.1216-2A>G p.? 13:48376916-48376916 0
10 COSM888 RB1 eye,retina,retinoblastoma,NS c.1666C>T p.R556* 13:48381414-48381414 0
11 COSM938 RB1 eye,retina,retinoblastoma,NS c.967G>T p.E323* 13:48367521-48367521 0
12 COSM878 RB1 eye,retina,retinoblastoma,NS c.751C>T p.R251* 13:48362847-48362847 0
13 COSM887 RB1 eye,retina,retinoblastoma,NS c.1654C>T p.R552* 13:48381402-48381402 0
14 COSM317962 RB1 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 0
15 COSM903 RB1 eye,retina,retinoblastoma,NS c.1494T>A p.Y498* 13:48380237-48380237 0
16 COSM1026 RB1 eye,retina,retinoblastoma,NS c.2326-2A>C p.? 13:48465203-48465203 0
17 COSM876 RB1 eye,retina,retinoblastoma,NS c.160G>T p.E54* 13:48307302-48307302 0
18 COSM1013 RB1 eye,retina,retinoblastoma,NS c.1389+1G>C p.? 13:48379651-48379651 0
19 COSM1030 RB1 eye,retina,retinoblastoma,NS c.1961-1G>A p.? 13:48459687-48459687 0
20 COSM1040 RB1 eye,retina,retinoblastoma,NS c.1960+2T>C p.? 13:48456351-48456351 0
21 COSM890 RB1 eye,retina,retinoblastoma,NS c.409G>T p.E137* 13:48345108-48345108 0
22 COSM911 RB1 eye,retina,retinoblastoma,NS c.1166T>A p.L389* 13:48373443-48373443 0
23 COSM889 RB1 eye,retina,retinoblastoma,NS c.2158A>T p.K720* 13:48463782-48463782 0
24 COSM880 RB1 eye,retina,retinoblastoma,NS c.1333C>T p.R445* 13:48379594-48379594 0
25 COSM3724517 RB1 eye,retina,retinoblastoma,NS c.862-5T>G p.? 13:48364889-48364889 0
26 COSM3724518 RB1 eye,retina,retinoblastoma,NS c.2520+4A>G p.? 13:48473394-48473394 0
27 COSM936 RB1 eye,retina,retinoblastoma,NS c.1183C>T p.Q395* 13:48373460-48373460 0
28 COSM144722 RB1 eye,retina,retinoblastoma,NS c.265-2A>C p.? 13:48342597-48342597 0
29 COSM1047 RB1 eye,retina,retinoblastoma,NS c.982A>C p.N328H 13:48367536-48367536 0
30 COSM942 RB1 eye,retina,retinoblastoma,NS c.2063T>C p.L688P 13:48459790-48459790 0
31 COSM5700369 RB1 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 0
32 COSM1041 RB1 eye,retina,retinoblastoma,NS c.1049+1G>T p.? 13:48367604-48367604 0
33 COSM1017 RB1 eye,retina,retinoblastoma,NS c.380+1G>T p.? 13:48342715-48342715 0
34 COSM3724510 RB1 eye,retina,retinoblastoma,NS c.2527G>T p.E843* 13:48476707-48476707 0
35 COSM1050 RB1 eye,retina,retinoblastoma,NS c.1421G>A p.S474N 13:48380084-48380084 0
36 COSM5686463 RB1 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 0
37 COSM882 RB1 eye,retina,retinoblastoma,NS c.2152G>A p.D718N 13:48463776-48463776 0
38 COSM1016 RB1 eye,retina,retinoblastoma,NS c.1960+1G>A p.? 13:48456350-48456350 0
39 COSM764 PIK3CA eye,retina,retinoblastoma,NS c.1634A>G p.E545G 3:179218304-179218304 0
40 COSM521 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 0
41 COSM520 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 0
42 COSM5686462 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 0
43 COSM5668651 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 0
44 COSM5025108 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 0
45 COSM5700368 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 0

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:

38
# Name Kegg Source Accession
1 Cell cycle hsa04110

Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 CDK4 E2F1 RB1 RBBP4 RBBP7 RBBP8
2
Show member pathways
12.9 CDK4 E2F1 RB1 RBL1 RBL2
3
Show member pathways
12.87 E2F1 RBBP4 RBBP7 RBBP8 RBL1 RBL2
4 12.39 CDK4 E2F1 RB1 RBBP8 RBL2
5
Show member pathways
12.32 CDK4 E2F1 RB1 RBBP4 RBL1 RBL2
6 12.31 CDK4 E2F1 RB1 RBL1 RBL2
7
Show member pathways
12.29 CDK4 E2F1 MIR34B RB1
8 12.25 CDK4 E2F1 RB1 RBL1 RBL2
9
Show member pathways
12.23 CDK4 E2F1 RB1 RBL1 RBL2
10 12.21 CDK4 RB1 RBL1 RBL2
11
Show member pathways
12.14 CDK4 E2F1 RB1 RBL2
12 11.98 E2F1 RB1 RBBP4 RBBP7
13 11.96 E2F1 RB1 RBL1 RBL2
14 11.91 CDK4 E2F1 RB1
15 11.87 CDK4 E2F1 RB1
16 11.84 CDK4 E2F1 RB1 RBBP4 RBL1 RBL2
17
Show member pathways
11.83 E2F1 RBL1 RBL2
18 11.78 CDK4 E2F1 RB1
19
Show member pathways
11.77 CDK4 E2F1 RB1 RBBP4 RBL1 RBL2
20
Show member pathways
11.72 E2F1 RB1 RBBP8
21 11.66 CDK4 E2F1 RB1
22 11.64 CDK4 RBBP4 RBBP7 RBL1
23 11.62 E2F1 RB1 RBBP4 RBBP7
24 11.61 E2F1 RBBP4 RBBP7
25 11.6 CDK4 E2F1 RB1 RBBP4 RBBP7
26 11.54 CDK4 E2F1 RB1 RBL2
27 11.42 E2F1 RB1 RBBP8
28 11.39 CDK4 E2F1 RB1
29
Show member pathways
11.07 RB1 RBBP4 RBBP7 RBL1 RBL2
30 11.02 E2F1 RB1
31 11 E2F1 RB1
32 10.96 E2F1 RB1 RBBP4 RBBP8 RBL1 RBL2
33 10.88 RBBP4 RBBP7
34 10.81 RB1 RBL1 RBL2
35 10.71 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 micro-ribonucleoprotein complex GO:0035068 9.65 MEG3 MIR198 MIR320A MIR34A MIR34B
2 NuRD complex GO:0016581 9.37 RBBP4 RBBP7
3 transcription factor complex GO:0005667 9.35 CDK4 E2F1 RB1 RBL1 RBL2
4 ESC/E(Z) complex GO:0035098 9.32 RBBP4 RBBP7
5 Rb-E2F complex GO:0035189 9.16 E2F1 RB1
6 chromatin GO:0000785 9.02 CDK4 MYCN 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 gene silencing by miRNA GO:0035195 9.93 MEG3 MIR198 MIR320A MIR34A MIR34B
2 negative regulation of gene expression GO:0010629 9.8 MYCN RB1 RBL1 RBL2
3 chromatin organization GO:0006325 9.8 RB1 RBBP4 RBBP7 RBL1 RBL2
4 cell cycle GO:0007049 9.8 CDK4 E2F1 RB1 RBBP4 RBBP8 RBL1
5 cellular response to hypoxia GO:0071456 9.73 E2F1 MALAT1 MIR34A
6 G1/S transition of mitotic cell cycle GO:0000082 9.69 CDK4 RB1 RBBP8
7 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.63 RB1 RBL1 RBL2
8 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.55 MIR320A MIR34A
9 regulation of mitotic cell cycle GO:0007346 9.54 RB1 RBL1 RBL2
10 positive regulation of connective tissue replacement GO:1905205 9.52 MIR34A MIR34B
11 regulation of cell division GO:0051302 9.48 RBL1 RBL2
12 negative regulation of G0 to G1 transition GO:0070317 9.46 E2F1 RBBP4 RBBP7 RBBP8
13 cellular response to xenobiotic stimulus GO:0071466 9.43 E2F1 RB1
14 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.32 E2F1 RB1
15 regulation of lipid kinase activity GO:0043550 9.13 RB1 RBL1 RBL2
16 regulation of cell cycle GO:0051726 9.1 CDK4 E2F1 RB1 RBBP4 RBL1 RBL2

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II activating transcription factor binding GO:0001102 9.13 RB1 RBL1 RBL2
2 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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