RB1
MCID: RTN024
MIFTS: 74

Retinoblastoma (RB1)

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

Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Name: Retinoblastoma 57 12 75 24 53 25 59 37 29 13 55 6 15 40 17 72
Rb 57 12 53 25 74
Retinoblastoma, Trilateral 57 29 6
Trilateral Retinoblastoma 12 15 72
Hereditary Retinoblastoma 59 55
Childhood Cancer Retinoblastoma 74
Non-Hereditary Retinoblastoma 59
Malignant Neoplasm of Retina 72
Eye Cancer, Retinoblastoma 53
Neuroblastoma of Retina 12
Rb - Retinoblastoma 12
Retinal Neoplasms 72
Glioma, Retinal 25
Retinal Cancer 53
Retinal Tumor 53
Rb1 57

Characteristics:

Orphanet epidemiological data:

59
retinoblastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Europe),1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy; Age of death: any age;
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:

57
Inheritance:
somatic mutation
autosomal dominant

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


HPO:

32

GeneReviews:

24
Penetrance See genotype-phenotype correlations.

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:4647 DOID:768
OMIM 57 180200
KEGG 37 H01513
MeSH 44 D012175
NCIt 50 C6956 C7541
SNOMED-CT 68 19906005
ICD10 33 C69.2
MESH via Orphanet 45 D012175
ICD10 via Orphanet 34 C69.2
UMLS via Orphanet 73 C0035335 C0751483
UMLS 72 C0024622 C0035335 C0524801 more

Summaries for Retinoblastoma

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. In children with retinoblastoma, the disease often affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in dim light or in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting; a change in the color of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes. Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening. When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body's cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma.

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 Miconazole and Itraconazole have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and retina, 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.

NIH Rare Diseases : 53 Retinoblastoma (RB) is a rare type of eye cancer in the retina that typically develops before the age of 5. It usually affects only one eye, but 1/3 of children with RB develop cancer in both eyes. The first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. Other signs and symptoms include strabismus; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). Retinoblastoma is caused by mutations in the RB1 gene. In about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. In the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. Retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. Hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). Retinoblastoma that occurs in only one eye is usually not inherited. Retinoblastoma that occurs in both eyes is thought to be inherited.

OMIM : 57 Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000). (180200)

KEGG : 37
The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in both alleles of the retinoblastoma tumor suppressor gene RB1, followed by a series of other genetic alterations that correlate with the clinical stage and pathologic findings of the tumor. In retinoblastoma, mutation of RB1 leads to dysfunction or absence of the Rb protein. These mutations promote tumour development by deregulating the E2F family of transcription factors leading to uncontrolled cell cycle progression.

UniProtKB/Swiss-Prot : 74 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 : 75 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 931)
# Related Disease Score Top Affiliating Genes
1 bilateral retinoblastoma 35.2 RBL1 RB1 MYCN
2 unilateral retinoblastoma 35.2 RBL1 RB1
3 familial retinoblastoma 34.6 RB1 MYCN
4 ocular cancer 33.5 RBL2 RBL1 RB1 PRDM2 E2F1 CDK4
5 retinal cancer 33.4 RBL2 RBL1 RBBP4 RB1 PRDM2 E2F1
6 small cell cancer of the lung 33.0 RB1 MYCN MALAT1 HOTAIR
7 nervous system cancer 32.9 RBL2 RBL1 RB1 MYCN CDK4
8 cervical cancer 32.5 RB1 MEG3 MALAT1 HOTAIR CCAT1
9 periosteal chondrosarcoma 32.2 RB1 CDK4
10 osteogenic sarcoma 31.2 RB1 MEG3 MALAT1 HOTAIR CCAT1 BANCR
11 spindle cell lipoma 31.0 RB1 CDK4
12 bladder cancer 30.9 RB1 MEG3 MALAT1 HOTAIR CDK4 BANCR
13 medulloblastoma 30.7 MYCN MIR34A HOTAIR CDK4 CCAT1
14 glioma 30.6 MIR34A MEG3 MALAT1 HOTAIR CDK4 CCAT1
15 melanoma 30.6 MIR34A MEG3 MALAT1 HOTAIR CDK4 BANCR
16 wilms tumor 1 30.6 RBBP7 PRDM2 MYCN MEG3
17 pituitary adenoma 30.6 MEG3 MALAT1 HOTAIR
18 brain cancer 30.6 RBBP4 RB1 MYCN CDK4
19 glioblastoma 30.5 RB1 MYCN MIR34A MEG3 MALAT1 HOTAIR
20 myeloma, multiple 30.4 MEG3 MALAT1 HOTAIR CDK4 CCAT1
21 endometrial cancer 30.4 RB1 MEG3 HOTAIR CDK4 CCAT1
22 nasopharyngeal carcinoma 30.4 MEG3 MALAT1 HOTAIR CDK4 CCAT1
23 lung cancer susceptibility 3 30.4 MEG3 MALAT1 HOTAIR CDK4 CCAT1
24 bladder urothelial carcinoma 30.3 RB1 MEG3 MALAT1 HOTAIR
25 laryngeal squamous cell carcinoma 30.2 MALAT1 HOTAIR CCAT1
26 ovarian epithelial cancer 30.2 MEG3 MALAT1 HOTAIR
27 leukemia, acute myeloid 30.2 MIR320A MEG3 MALAT1 HOTAIR CCAT1
28 gastric cardia adenocarcinoma 30.2 MEG3 HOTAIR
29 gallbladder cancer 30.2 MEG3 MALAT1 HOTAIR CCAT1
30 breast cancer 30.1 RB1 MIR34A MIR320A MEG3 MALAT1 HOTAIR
31 pancreatic cancer 30.1 MIR34A MEG3 MALAT1 HOTAIR CDK4 CCAT1
32 diffuse large b-cell lymphoma 30.1 MIR320A HOTAIR CDK4
33 esophageal cancer 30.1 RB1 MIR34A MEG3 MALAT1 HOTAIR CDK4
34 ovarian cancer 30.1 MIR498 MEG3 MALAT1 HOTAIR CDK4 CCAT1
35 squamous cell carcinoma, head and neck 30.0 RB1 MIR498 HOTAIR CDK4
36 hepatocellular carcinoma 30.0 RB1 MIR34A MEG3 MALAT1 HOTAIR E2F1
37 thyroid cancer, nonmedullary, 1 29.9 MIR34A MEG3 MALAT1 HOTAIR BANCR
38 kidney cancer 29.9 MEG3 MALAT1 HOTAIR
39 gastric cancer 29.8 MIR34A MEG3 MALAT1 HOTAIR CCAT1 BANCR
40 oral squamous cell carcinoma 29.8 MIR34A MEG3 MALAT1 HOTAIR CCAT1
41 lung cancer 29.7 RB1 MYCN MIR34A MIR198 MEG3 MALAT1
42 prostate cancer 29.5 RB1 MIR498 MIR34A MIR320A MIR198 MEG3
43 intraocular retinoblastoma 12.6
44 extraocular retinoblastoma 12.6
45 pediatric intraocular retinoblastoma 12.5
46 pediatric extraocular retinoblastoma 12.5
47 imprinting gene related to retinoblastoma 12.3
48 roberts syndrome 12.0
49 inherited cancer-predisposing syndrome 12.0
50 idiopathic interstitial pneumonia 11.6

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to Retinoblastoma

Symptoms & Phenotypes for Retinoblastoma

Human phenotypes related to Retinoblastoma:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinoblastoma 59 32 hallmark (90%) Obligate (100%) HP:0009919
2 vitritis 32 occasional (7.5%) HP:0011531
3 cleft palate 59 32 Very rare (<4-1%) HP:0000175
4 leukocoria 59 32 Frequent (79-30%) HP:0000555
5 leukemia 59 32 Occasional (29-5%) HP:0001909
6 lymphoma 59 32 Occasional (29-5%) HP:0002665
7 osteosarcoma 59 32 Occasional (29-5%) HP:0002669
8 retinal calcification 59 32 Occasional (29-5%) HP:0007862
9 vitreous hemorrhage 59 32 Occasional (29-5%) HP:0007902
10 ewing sarcoma 59 32 Very rare (<4-1%) HP:0012254
11 abnormality of retinal pigmentation 59 Occasional (29-5%)
12 strabismus 59 Frequent (79-30%)
13 melanoma 59 Occasional (29-5%)
14 reduced visual acuity 59 Occasional (29-5%)
15 heterochromia iridis 59 Occasional (29-5%)
16 glaucoma 59 Frequent (79-30%)
17 proptosis 59 Frequent (79-30%)
18 hypopyon 59 Frequent (79-30%)
19 uveitis 59 Occasional (29-5%)
20 rhabdomyosarcoma 59 Occasional (29-5%)
21 hyphema 59 Occasional (29-5%)
22 abnormal eye morphology 59 Occasional (29-5%)
23 subretinal pigment epithelium hemorrhage 59 Occasional (29-5%)
24 red eye 59 Occasional (29-5%)
25 leiomyosarcoma 59 Occasional (29-5%)
26 cellulitis 59 Occasional (29-5%)
27 glioma 59 Very rare (<4-1%)
28 pineoblastoma 59 Very rare (<4-1%)
29 pinealoma 32 HP:0010799

Symptoms via clinical synopsis from OMIM:

57
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
Head And Neck Mouth:
cleft palate (rare)

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

Clinical features from OMIM:

180200

MGI Mouse Phenotypes related to Retinoblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.1 CDK4 E2F1 PRDM2 RB1 RBL1 RBL2

Drugs & Therapeutics for Retinoblastoma

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

(show top 50) (show all 128)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
3
Nicotine Approved Phase 4 54-11-5 942 89594
4 Hormones Phase 4
5 Hormone Antagonists Phase 4
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
7 Anti-Infective Agents Phase 4
8 Antifungal Agents Phase 4
9 Steroid Synthesis Inhibitors Phase 4
10 14-alpha Demethylase Inhibitors Phase 4
11 Cytochrome P-450 CYP3A Inhibitors Phase 4
12 Cytochrome P-450 Enzyme Inhibitors Phase 4
13
Hydroxyitraconazole Phase 4
14
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
15
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
16
Palbociclib Approved, Investigational Phase 3 571190-30-2 5330286 11431660 5005498
17
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
18
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
19
Lactitol Investigational Phase 3 585-86-4, 585-88-6 493591
20 topoisomerase I inhibitors Phase 3
21
Liposomal doxorubicin Phase 3 31703
22 Anti-Bacterial Agents Phase 3
23 Antibiotics, Antitubercular Phase 3
24 Keratolytic Agents Phase 3
25 Podophyllotoxin Phase 3 518-28-5
26 Protein Kinase Inhibitors Phase 3
27 Estrogens Phase 3
28 Estrogen Receptor Antagonists Phase 3
29 Aromatase Inhibitors Phase 3
30 Estrogen Antagonists Phase 3
31 Mitogens Phase 3
32
Ranibizumab Approved Phase 2 347396-82-1 459903
33
Gemcitabine Approved Phase 2 95058-81-4 60750
34
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
35
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
36
Pertuzumab Approved Phase 1, Phase 2 145040-37-5, 380610-27-5 2540
37
Anastrozole Approved, Investigational Phase 1, Phase 2 120511-73-1 2187
38
Cetuximab Approved Phase 1, Phase 2 205923-56-4 56842117 2333
39
Goserelin Approved Phase 2 65807-02-5, 1233494-97-7 47725 5311128
40
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
41
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
42
Iodine Approved, Investigational Phase 2 7553-56-2 807
43
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
45
Acetaminophen Approved Phase 2 103-90-2 1983
46
Promethazine Approved, Investigational Phase 2 60-87-7 4927
47
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
48
Melphalan Approved Phase 2 148-82-3 460612 4053
49
Metformin Approved Phase 2 657-24-9 4091 14219
50 3-Iodobenzylguanidine Phase 2

Interventional clinical trials:

(show top 50) (show all 135)
# Name Status NCT ID Phase Drugs
1 CEV With/Without Periocular Carboplatin Chemotherapy for Nonmetastatic Extraocular Retinoblastoma Carboplatin--A Single Center, Retrospective Study to Evaluate the Efficacy of Carboplatin in Subjects With Retinoblastoma Completed NCT02319486 Phase 4 carboplatin periocular injection;CEV chemotherapy
2 Clinical Study to Evaluate the Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation for Pediatric Solid Tumors Completed NCT00336531 Phase 4 itraconazole
3 G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor: a Prospective, Multicentre, Randomised Controlled Trial Recruiting NCT02933333 Phase 4
4 Carboplatin Periocular Injection in the Treatment for Retinoblastoma--A Single Center, Randomized Study to Evaluate the Efficacy of Carboplatin in Subjects With Retinoblastoma Unknown status NCT02137928 Phase 3 carboplatin periocular injection;chemotherapy
5 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Unknown status NCT01987596 Phase 3
6 Trial of Systemic Neoadjuvant Chemotherapy for Group B Intraocular Retinoblastoma Completed NCT00079417 Phase 3 carboplatin;vincristine sulfate
7 A Study of Unilateral Retinoblastoma With and Without Histopathologic High-Risk Features and the Role of Adjuvant Chemotherapy Completed NCT00335738 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
8 Three Cycles Versus Six Cycles of Adjuvant Chemotherapy for the Patients With High-risk Retinoblastoma After Enucleation: Prospective Randomized Control Study Recruiting NCT01906814 Phase 3 3 cycles chemotherapy;6 cycles chemotherapy
9 GALOP II Protocol for the Treatment of Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
10 Protocol for the Study and Treatment of Patients With Intraocular Retinoblastoma Active, not recruiting NCT00186888 Phase 3 Vincristine, Carboplatin;Vincristine and Topotecan;Vincristine + Carboplatin + Etoposide;vincristine, cyclophosphamide, and doxorubicin;Vincristine, Carboplatin and Etoposide
11 A Trial of Intensive Multi-Modality Therapy for Extra-Ocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Thiotepa;Vincristine Sulfate
12 Phase III Study Evaluating Palbociclib (PD-0332991), a Cyclin-Dependent Kinase (CDK) 4/6 Inhibitor in Patients With Hormone-receptor-positive, HER2-normal Primary Breast Cancer With High Relapse Risk After Neoadjuvant Chemotherapy "PENELOPEB" Active, not recruiting NCT01864746 Phase 3 Palbociclib PD-0332991;Placebo
13 Efficacy, Tolerability, and Safety of Palbociclib Combined With an Aromatase Inhibitor in Hormone Receptor-positive/Human Epidermal Growth Factor Receptor 2-negative Locally Advanced Breast Cancer Not yet recruiting NCT04047758 Phase 3 Palbociclib + Letrozole;Letrozole
14 A Single Arm Trial of Systemic And Subtenon Chemotherapy For Groups C And D Intraocular Retinoblastoma Terminated NCT00072384 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
15 Chemotherapy Plus Local Surgical Treatment in Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2 Carboplatin;VP-16
16 Lucentis in the Treatment of Retinoblastoma - A Phase II, Single Center, Randomized Study to Evaluate the Efficacy of Ranibizumab in Subjects With Retinoblastoma Unknown status NCT01899066 Phase 2 Lucentis, chemotherapy;chemotherapy
17 Phase 1-2 Study of Injection of Melphalan Into the Ophthalmic Artery in Children With Retinoblastoma Unknown status NCT00906113 Phase 1, Phase 2 Intra-arterial injection of melphalan;Injection of melphalan into the ophthalmic artery
18 Treatment for Extrachoroidal or Metastatic Retinoblastoma Completed NCT00004006 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
19 Evaluation of Chemotherapy as Initial Treatment for Retinoblastoma Completed NCT00002794 Phase 2 carboplatin;vincristine sulfate
20 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
21 A TRIAL OF ADJUVANT CHEMOTHERAPY IN PATIENTS WITH INTRAOCULAR RETINOBLASTOMA Completed NCT00002675 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
22 A Phase II Clinical Trail of the Cyclin Dependent Kinase (CDK)4/6 Inhibitor, PD0332991 in Previously Treated, Advanced NSCLC Patients With Wildtype Retinoblastoma Protein (RB) and Inactive Cyclin Dependent Kinase (CDK)N2a Completed NCT01291017 Phase 2 PD0332991
23 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
24 High-Dose Thiotepa With Autologous Stem Cell Rescue in Patients With Malignancies Refractory to Conventional Chemotherapy Completed NCT00003173 Phase 2 thiotepa
25 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
26 A Phase II Study of IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
27 Phase I/II Intra-patient Dose Escalation Study of Vorinostat in Children With Relapsed Solid Tumor, Lymphoma or Leukemia Completed NCT01422499 Phase 1, Phase 2 zolinza/vorinostat
28 Phase II Evaluation of Carboplatin, Paclitaxel and Gemcitabine Followed by Concurrent Cisplatin and Radiation Therapy in Patients With Locally Advanced or Recurrent Urothelial Malignancy Completed NCT00055835 Phase 2 carboplatin;cisplatin;gemcitabine hydrochloride;paclitaxel
29 Phase 2 Single- Arm Studies of Temozolomide in Combination With Topotecan in Refractory and Relapsed Neuroblastoma and Other Paediatric Solid Tumours Completed NCT00918320 Phase 2 Temozolomide/Hycamtin (Topotecan)
30 A Randomized, Open-label Therapeutic Trial Evaluating the Efficacy and Safety of Neridronate (Nerixia®) in the Treatment of Osteoporosis in Patients With Thalassemia Major and Severe Thalassemia Intermedia. Completed NCT01140321 Phase 2 Neridronate
31 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
32 Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated Recruiting NCT02870907 Phase 2 Etoposide;Vincristine;Carboplatin;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Carboplatin;Thiotepa;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Thiotepa
33 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
34 A Phase 2 Study of Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
35 A Multicenter, Phase I/II Trial of Anastrozole, Palbociclib, Trastuzumab and Pertuzumab in HeR-positive, Her2-positive Metastatic Breast Cancer Recruiting NCT03304080 Phase 1, Phase 2 Anastrozole;Palbociclib;Trastuzumab;Pertuzumab
36 Randomized Phase IB/II Study of Enzalutamide With and Without Ribociclib in Patients With Metastatic Castrate Resistant, Chemotherapy Naïve Prostate Cancer That Retains RB Expression Recruiting NCT02555189 Phase 1, Phase 2 Enzalutamide;Ribociclib
37 CDK4/6 Inhibition in Locally Advanced/Metastatic Chordoma (NCT-PMO-1601) Recruiting NCT03110744 Phase 2 Palbociclib
38 A Phase I/II Dose Escalation Study of the CDK4/6 Inhibitor, Palbociclib in Combination With Cetuximab and Intensity Modulated Radiation Therapy (IMRT) for Locally Advanced Squamous Cell Carcinoma of the Head and Neck Recruiting NCT03024489 Phase 1, Phase 2 Palbociclib;Palbociclib;Palbociclib;Palbociclib;Cetuximab
39 A Randomized Phase II Study of Androgen Deprivation Therapy With or Without Palbociclib in RB-Positive Metastatic Hormone-Sensitive Prostate Cancer Active, not recruiting NCT02059213 Phase 2 Ibrance;Bicalutamide;Zoladex;Lupron Depot
40 Multicenter Phase II Study for International Intraocular Retinoblastoma Classification Groups B, C & D Tumors Treated With Carboplatin-Etoposide-Vincristine-Cyclosporine-Focal Therapy Multimodality Protocol (OCRN Multicenter RB 2003) Active, not recruiting NCT00110110 Phase 2 Carboplatin;Cyclosporine;Etoposide;vincristine sulfate
41 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
42 Abemaciclib for Treatment of Advanced Bone and Soft Tissue Sarcoma Identified as Having CDK Pathway Alteration Not yet recruiting NCT04040205 Phase 2 Abemaciclib
43 Targeted Therapy With CDK4/6 Inhibitors in Chemo-Refractory, Rb Wild-Type Extensive Small Cell Lung Cancer (SCLC), An Open Label Phase 2 Trial Not yet recruiting NCT04010357 Phase 2 Abemaciclib,
44 Phase II Study Temozolomide for Retinoblastoma Metastatic to the Central Nervous System for Patients From Guatemala Terminated NCT01857752 Phase 2 Temozolomide
45 Intra-arterial Chemotherapy for the Treatment of Intraocular Retinoblastoma Terminated NCT01293539 Phase 2 Melphalan hydrochloride
46 A Phase II Trial of Proton Beam Radiation Therapy for Intra- and Periocular Retinoblastoma Terminated NCT00432445 Phase 2
47 An Open, Single-centre Non-randomized Phase II Clinical Trial on Intra-arterial Chemotherapy With Melphalan for the Treatment of Retinoblastoma (RTB) in Advanced Intraocular Stage Terminated NCT01393769 Phase 2 Melphalan
48 Phase II Trial of Palbociclib (PD-0332991) in Patients With Metastatic Urothelial Cancer (UC) After Failure of First-Line Chemotherapy Terminated NCT02334527 Phase 2 Palbociclib
49 A Phase II, Open Label Assessment of Neoadjuvant Intervention With Metformin Against Tumour Expression of Signaling Terminated NCT00881725 Phase 2 Metformin
50 Intra-arterial Chemotherapy for Advanced Intraocular Retinoblastoma Withdrawn NCT01151748 Phase 2

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Carboplatin
Cyclophosphamide
Cyclophosphamide
Etoposide
Vincristine

Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

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

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

41
Eye, Breast, Retina, Lung, Prostate, Smooth Muscle, Bone

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 15527)
# Title Authors PMID Year
1
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. 38 4 8 71
12016586 2002
2
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. 9 38 8 71
10486322 1999
3
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. 9 38 8 71
1881452 1991
4
Detection of mosaic RB1 mutations in families with retinoblastoma. 9 38 4 8
19280657 2009
5
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 9 38 4 8
12541220 2003
6
Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. 9 38 4 8
9326321 1997
7
Spectrum of small length germline mutations in the RB1 gene. 38 8 71
7881418 1994
8
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. 38 8 71
1352883 1992
9
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 38 8 71
2594029 1989
10
Mutations in the RB1 gene and their effects on transcription. 38 8 71
2601691 1989
11
RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 38 4 8
24688104 2014
12
Genotype-phenotype correlations in hereditary familial retinoblastoma. 38 4 8
17096365 2007
13
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma. 38 4 71
16988938 2007
14
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. 38 4 8
9342358 1997
15
Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. 38 4 8
8755916 1996
16
Expression of motility-related protein MRP1/CD9, N-cadherin, E-cadherin, alpha-catenin and beta-catenin in retinoblastoma. 9 38 8
17316610 2007
17
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. 9 38 71
17299438 2007
18
Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma. 9 38 8
12794701 2003
19
Structure and function of the N-cadherin/catenin complex in retinoblastoma. 9 38 8
11867572 2002
20
Molecular basis of low-penetrance retinoblastoma. 9 38 8
11709023 2001
21
Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing. 9 38 8
10631148 2000
22
Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). 9 38 8
9245987 1997
23
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 9 38 8
8651278 1996
24
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 9 38 71
8605116 1995
25
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 9 38 8
7795591 1995
26
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 9 38 71
7704558 1994
27
Cyclin A and the retinoblastoma gene product complex with a common transcription factor. 9 38 8
1830372 1991
28
Retinoblastoma in transgenic mice. 9 38 8
1689463 1990
29
Rb suppresses human cone-precursor-derived retinoblastoma tumours. 38 8
25252974 2014
30
A novel retinoblastoma therapy from genomic and epigenetic analyses. 38 8
22237022 2012
31
The human retinoblastoma gene is imprinted. 38 8
20041224 2009
32
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma. 9 38 4
18509746 2009
33
Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma. 9 38 4
18211953 2008
34
Secondary acute myelogenous leukemia in patients with retinoblastoma: is chemotherapy a factor? 38 8
17613328 2007
35
Retinoblastoma tumor vessel maturation impacts efficacy of vessel targeting in the LH(BETA)T(AG) mouse model. 38 8
17525173 2007
36
Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma. 38 8
17210724 2007
37
Diagnosis and current management of retinoblastoma. 38 8
16936756 2006
38
Late-onset retinoblastoma in a well-functioning fellow eye. 38 8
16631255 2006
39
Essential role of retinoblastoma protein in mammalian hair cell development and hearing. 38 8
16648263 2006
40
Pineal cyst simulating pinealoblastoma in 11 children with retinoblastoma. 38 8
16606893 2006
41
Abnormal gene expression profiles in unaffected parents of patients with hereditary-type retinoblastoma. 38 8
16585164 2006
42
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 38 8
16463005 2006
43
The related retinoblastoma (pRb) and p130 proteins cooperate to regulate homeostasis in the intestinal epithelium. 38 8
16258171 2006
44
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. 9 38 4
16127685 2005
45
Acidic fibroblast growth factor (FGF-1) and FGF receptor 1 signaling in human Y79 retinoblastoma. 38 8
15767480 2005
46
Proliferation of functional hair cells in vivo in the absence of the retinoblastoma protein. 38 8
15653467 2005
47
Human retinoblastoma cells are resistant to apoptosis induced by death receptors: role of caspase-8 gene silencing. 38 8
15623796 2005
48
Retinoblastoma protein functions as a molecular switch determining white versus brown adipocyte differentiation. 38 8
15024128 2004
49
Rapid identification of germline mutations in retinoblastoma by protein truncation testing. 38 8
14769601 2004
50
Acute mutation of retinoblastoma gene function is sufficient for cell cycle re-entry. 38 8
12853964 2003

Variations for Retinoblastoma

ClinVar genetic disease variations for Retinoblastoma:

6 (show top 50) (show all 607)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RB1 NC_000013.10: g.(?_48916735)_(48919335_?)del deletion Pathogenic 13:48916735-48919335 13:48342599-48345199
2 RB1 NM_000321.2(RB1): c.1696-12T> G single nucleotide variant Pathogenic rs1060503088 13:49027117-49027117 13:48452981-48452981
3 RB1 NM_000321.2(RB1): c.2029G> T (p.Glu677Ter) single nucleotide variant Pathogenic rs1060503067 13:49033892-49033892 13:48459756-48459756
4 RB1 NM_000321.2(RB1): c.2194_2197del (p.Pro732fs) deletion Pathogenic rs1060503075 13:49037954-49037957 13:48463818-48463821
5 RB1 NM_000321.2(RB1): c.1328C> A (p.Ser443Ter) single nucleotide variant Pathogenic rs1060503079 13:48951166-48951166 13:48377030-48377030
6 RB1 NM_000321.2(RB1): c.1673_1674dup (p.Glu559fs) duplication Pathogenic rs1555286707 13:48955557-48955558 13:48381421-48381422
7 RB1 NM_000321.2(RB1): c.1960G> C (p.Val654Leu) single nucleotide variant Pathogenic rs483352690 13:49030485-49030485 13:48456349-48456349
8 RB1 NM_000321.2(RB1): c.37_65del (p.Ala13fs) deletion Pathogenic rs1064792974 13:48878085-48878113 13:48303949-48303977
9 RB1 NM_000321.2(RB1): c.967G> T (p.Glu323Ter) single nucleotide variant Pathogenic rs1060503077 13:48941657-48941657 13:48367521-48367521
10 RB1 NM_000321.2(RB1): c.19dup (p.Arg7fs) duplication Pathogenic rs1131690852 13:48878067-48878067 13:48303931-48303931
11 RB1 NM_000321.2(RB1): c.54_76dup (p.Pro26fs) duplication Pathogenic rs1555279210 13:48878102-48878124 13:48303966-48303988
12 RB1 NM_000321.2(RB1): c.644C> A (p.Ser215Ter) single nucleotide variant Pathogenic rs768305224 13:48934189-48934189 13:48360053-48360053
13 RB1 NM_000321.2(RB1): c.751C> T (p.Arg251Ter) single nucleotide variant Pathogenic rs1131690863 13:48936983-48936983 13:48362847-48362847
14 RB1 NM_000321.2(RB1): c.1345G> A (p.Gly449Arg) single nucleotide variant Pathogenic rs1131690851 13:48953742-48953742 13:48379606-48379606
15 RB1 NM_000321.2(RB1): c.1706del (p.Leu569fs) deletion Pathogenic rs1131690842 13:49027139-49027139 13:48453003-48453003
16 RB1 NM_000321.2(RB1): c.2325+1G> A single nucleotide variant Pathogenic rs1131690882 13:49039248-49039248 13:48465112-48465112
17 RB1 NM_000321.2(RB1): c.2520+1G> T single nucleotide variant Pathogenic rs587778850 13:49047527-49047527 13:48473391-48473391
18 RB1 NM_000321.2(RB1): c.869del (p.Asn290fs) deletion Pathogenic rs1131690901 13:48939037-48939037 13:48364901-48364901
19 RB1 NM_000321.2(RB1): c.940-1G> A single nucleotide variant Pathogenic rs1131690860 13:48941629-48941629 13:48367493-48367493
20 RB1 NM_000321.2(RB1): c.861G> C (p.Glu287Asp) single nucleotide variant Pathogenic rs1555284956 13:48937093-48937093 13:48362957-48362957
21 RB1 NM_000321.2(RB1): c.1458del (p.Leu486fs) deletion Pathogenic rs1555286611 13:48954337-48954337 13:48380201-48380201
22 RB1 NC_000013.10: g.(?_48881410)_(48923165_?)del deletion Pathogenic 13:48881410-48923165 13:48307274-48349029
23 RB1 NM_000321.2(RB1): c.1278dup (p.Lys427Ter) duplication Pathogenic rs1555286236 13:48951116-48951116 13:48376980-48376980
24 RB1 NM_000321.2(RB1): c.54_73dup (p.Pro25fs) duplication Pathogenic rs1555279212 13:48878102-48878121 13:48303966-48303985
25 RB1 NM_000321.2(RB1): c.1333-2A> G single nucleotide variant Pathogenic rs1555286503 13:48953728-48953728 13:48379592-48379592
26 RB1 NM_000321.2(RB1): c.597_601dup (p.Ala201delinsAspTer) duplication Pathogenic rs1555283670 13:48923149-48923153 13:48349013-48349017
27 RB1 NC_000013.10: g.(?_48878043)_(49054213_?)del deletion Pathogenic 13:48878043-49054213 13:48303907-48480077
28 RB1 NC_000013.10: g.(?_49039128)_(49039510_?)del deletion Pathogenic 13:49039128-49039510 13:48464992-48465374
29 RB1 NM_000321.2(RB1): c.283A> T (p.Lys95Ter) single nucleotide variant Pathogenic rs1555282775 13:48916753-48916753 13:48342617-48342617
30 RB1 NM_000321.2(RB1): c.1633_1640del (p.Glu545fs) deletion Pathogenic rs1555286695 13:48955517-48955524 13:48381381-48381388
31 RB1 NM_000321.2(RB1): c.1422-1G> A single nucleotide variant Pathogenic rs1461382798 13:48954300-48954300 13:48380164-48380164
32 RB1 NM_000321.2(RB1): c.510del (p.Glu170fs) deletion Pathogenic rs1555283482 13:48921970-48921970 13:48347834-48347834
33 RB1 NM_000321.2(RB1): c.2450_2453delinsTTT (p.Glu817fs) indel Pathogenic rs1555294626 13:49039465-49039468 13:48465329-48465332
34 RB1 NM_000321.2(RB1): c.380+3A> T single nucleotide variant Pathogenic rs1555282811 13:48916853-48916853 13:48342717-48342717
35 RB1 NM_000321.2(RB1): c.861G> A (p.Glu287=) single nucleotide variant Pathogenic rs1555284956 13:48937093-48937093 13:48362957-48362957
36 RB1 NM_000321.2(RB1): c.1332G> C (p.Gln444His) single nucleotide variant Pathogenic rs1555286250 13:48951170-48951170 13:48377034-48377034
37 RB1 NM_000321.2(RB1): c.2520+1del deletion Pathogenic rs587776779 13:49047527-49047527 13:48473391-48473391
38 RB1 NM_000321.2(RB1): c.1960+2T> C single nucleotide variant Pathogenic rs587776780 13:49030487-49030487 13:48456351-48456351
39 RB1 NM_000321.2(RB1): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs3092891 13:48953730-48953730 13:48379594-48379594
40 RB1 NM_000321.2(RB1): c.1700C> T (p.Ser567Leu) single nucleotide variant Pathogenic rs137853292 13:49027133-49027133 13:48452997-48452997
41 RB1 NM_000321.2(RB1): c.2359C> T (p.Arg787Ter) single nucleotide variant Pathogenic rs137853293 13:49039374-49039374 13:48465238-48465238
42 RB1 NM_000321.2(RB1): c.2244del (p.Glu748fs) deletion Pathogenic rs587776781 13:49039166-49039166 13:48465030-48465030
43 RB1 NM_000321.2(RB1): c.1049+1G> T single nucleotide variant Pathogenic rs587776782 13:48941740-48941740 13:48367604-48367604
44 RB1 NM_000321.2(RB1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121913301 13:48942685-48942685 13:48368549-48368549
45 RB1 RB1, 5-BP DEL, EX8 deletion Pathogenic
46 RB1 NM_000321.2(RB1): c.979_1033dup (p.Thr345delinsLysLysTer) duplication Pathogenic rs1555285429 13:48941669-48941723 13:48367533-48367587
47 RB1 NM_000321.2(RB1): c.1760_1769del (p.Glu587fs) deletion Pathogenic rs587776784 13:49027193-49027202 13:48453057-48453066
48 RB1 NM_000321.2(RB1): c.1949_1957del (p.Phe650_Lys653delinsTer) deletion Pathogenic rs587776785 13:49030474-49030482 13:48456338-48456346
49 RB1 NM_000321.2(RB1): c.2212-1G> A single nucleotide variant Pathogenic rs587776786 13:49039133-49039133 13:48464997-48464997
50 RB1 NM_000321.2(RB1): c.-189G> T single nucleotide variant Pathogenic rs387906520 13:48877860-48877860 13:48303724-48303724

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

74 (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

Cosmic variations for Retinoblastoma:

9 (show all 49)
# 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 18
2 COSM877 RB1 eye,retina,retinoblastoma,NS c.341C>A p.S114* 13:48342675-48342675 18
3 COSM910 RB1 eye,retina,retinoblastoma,NS c.1467C>A p.C489* 13:48380210-48380210 18
4 COSM895 RB1 eye,retina,retinoblastoma,NS c.1363C>T p.R455* 13:48379624-48379624 18
5 COSM1015 RB1 eye,retina,retinoblastoma,NS c.1215+1G>A p.? 13:48373493-48373493 18
6 COSM943 RB1 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 18
7 COSM13117 RB1 eye,retina,retinoblastoma,NS c.2053C>T p.Q685* 13:48459780-48459780 18
8 COSM1636648 RB1 eye,retina,retinoblastoma,NS c.2106+2T>G p.? 13:48459835-48459835 18
9 COSM1014 RB1 eye,retina,retinoblastoma,NS c.1216-2A>G p.? 13:48376916-48376916 18
10 COSM888 RB1 eye,retina,retinoblastoma,NS c.1666C>T p.R556* 13:48381414-48381414 18
11 COSM938 RB1 eye,retina,retinoblastoma,NS c.967G>T p.E323* 13:48367521-48367521 18
12 COSM878 RB1 eye,retina,retinoblastoma,NS c.751C>T p.R251* 13:48362847-48362847 18
13 COSM887 RB1 eye,retina,retinoblastoma,NS c.1654C>T p.R552* 13:48381402-48381402 18
14 COSM317962 RB1 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 18
15 COSM903 RB1 eye,retina,retinoblastoma,NS c.1494T>A p.Y498* 13:48380237-48380237 18
16 COSM1026 RB1 eye,retina,retinoblastoma,NS c.2326-2A>C p.? 13:48465203-48465203 18
17 COSM876 RB1 eye,retina,retinoblastoma,NS c.160G>T p.E54* 13:48307302-48307302 18
18 COSM1013 RB1 eye,retina,retinoblastoma,NS c.1389+1G>C p.? 13:48379651-48379651 18
19 COSM1030 RB1 eye,retina,retinoblastoma,NS c.1961-1G>A p.? 13:48459687-48459687 18
20 COSM1040 RB1 eye,retina,retinoblastoma,NS c.1960+2T>C p.? 13:48456351-48456351 18
21 COSM890 RB1 eye,retina,retinoblastoma,NS c.409G>T p.E137* 13:48345108-48345108 18
22 COSM911 RB1 eye,retina,retinoblastoma,NS c.1166T>A p.L389* 13:48373443-48373443 18
23 COSM889 RB1 eye,retina,retinoblastoma,NS c.2158A>T p.K720* 13:48463782-48463782 18
24 COSM880 RB1 eye,retina,retinoblastoma,NS c.1333C>T p.R445* 13:48379594-48379594 18
25 COSM3724517 RB1 eye,retina,retinoblastoma,NS c.862-5T>G p.? 13:48364889-48364889 18
26 COSM3724518 RB1 eye,retina,retinoblastoma,NS c.2520+4A>G p.? 13:48473394-48473394 18
27 COSM936 RB1 eye,retina,retinoblastoma,NS c.1183C>T p.Q395* 13:48373460-48373460 18
28 COSM144722 RB1 eye,retina,retinoblastoma,NS c.265-2A>C p.? 13:48342597-48342597 18
29 COSM1047 RB1 eye,retina,retinoblastoma,NS c.982A>C p.N328H 13:48367536-48367536 18
30 COSM942 RB1 eye,retina,retinoblastoma,NS c.2063T>C p.L688P 13:48459790-48459790 18
31 COSM5700369 RB1 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 18
32 COSM1041 RB1 eye,retina,retinoblastoma,NS c.1049+1G>T p.? 13:48367604-48367604 18
33 COSM1017 RB1 eye,retina,retinoblastoma,NS c.380+1G>T p.? 13:48342715-48342715 18
34 COSM3724510 RB1 eye,retina,retinoblastoma,NS c.2527G>T p.E843* 13:48476707-48476707 18
35 COSM1050 RB1 eye,retina,retinoblastoma,NS c.1421G>A p.S474N 13:48380084-48380084 18
36 COSM5686463 RB1 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 18
37 COSM882 RB1 eye,retina,retinoblastoma,NS c.2152G>A p.D718N 13:48463776-48463776 18
38 COSM1016 RB1 eye,retina,retinoblastoma,NS c.1960+1G>A p.? 13:48456350-48456350 18
39 COSM764 PIK3CA eye,retina,retinoblastoma,NS c.1634A>G p.E545G 3:179218304-179218304 18
40 COSM521 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
41 COSM520 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
42 COSM5686462 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 18
43 COSM5668651 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 18
44 COSM5025108 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 18
45 COSM5700368 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 18
46 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 3
47 COSM1732355 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
48 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
49 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 3

Copy number variations for Retinoblastoma from CNVD:

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

Expression for Retinoblastoma

Search GEO for disease gene expression data for Retinoblastoma.

Pathways for Retinoblastoma

Pathways related to Retinoblastoma according to KEGG:

37
# Name Kegg Source Accession
1 Cell cycle hsa04110

Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 RBL2 RBL1 RBBP7 RBBP4 RB1 E2F1
2
Show member pathways
12.89 RBL2 RBL1 RB1 E2F1 CDK4
3
Show member pathways
12.86 RBL2 RBL1 RBBP7 RBBP4 E2F1
4 12.39 RBL2 RB1 E2F1 CDK4
5
Show member pathways
12.32 RBL2 RBL1 RBBP4 RB1 E2F1 CDK4
6 12.31 RBL2 RBL1 RB1 E2F1 CDK4
7 12.25 RBL2 RBL1 RB1 E2F1 CDK4
8
Show member pathways
12.23 RBL2 RBL1 RB1 E2F1 CDK4
9 12.18 RBL2 RBL1 RB1 CDK4
10
Show member pathways
12.11 RBL2 RB1 E2F1 CDK4
11 11.95 RBL2 RBL1 RB1 E2F1
12 11.93 RBBP7 RBBP4 RB1 E2F1
13 11.89 RB1 E2F1 CDK4
14 11.85 RB1 E2F1 CDK4
15
Show member pathways
11.8 RBL2 RBL1 E2F1
16
Show member pathways
11.77 RBL2 RBL1 RBBP4 RB1 E2F1 CDK4
17 11.74 RB1 E2F1 CDK4
18 11.64 RBL1 RBBP7 RBBP4 CDK4
19 11.64 RBL2 RBL1 RBBP4 RB1 E2F1 CDK4
20 11.63 RB1 E2F1 CDK4
21 11.6 RBBP7 RBBP4 RB1 E2F1 CDK4
22 11.59 RBBP7 RBBP4 RB1 E2F1
23 11.58 RBBP7 RBBP4 E2F1
24 11.54 RBL2 RB1 E2F1 CDK4
25 11.42 RBL2 RBL1 RBBP4 RB1 E2F1
26 11.38 RB1 E2F1 CDK4
27 11.01 RB1 E2F1
28 10.99 RB1 E2F1
29 10.86 RBBP7 RBBP4
30 10.81 RBL2 RBL1 RB1
31
Show member pathways
10.74 RBL2 RBL1 RBBP7 RBBP4 RB1
32 10.68 MEG3 HOTAIR

GO Terms for Retinoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.35 RBL2 RBL1