RB1
MCID: RTN024
MIFTS: 73

Retinoblastoma (RB1)

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

Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Name: Retinoblastoma 56 12 74 24 52 25 58 36 29 13 54 6 15 39 17 71
Rb 56 12 52 25 73
Retinoblastoma, Trilateral 56 29 6
Trilateral Retinoblastoma 12 15 71
Hereditary Retinoblastoma 58 29 54
Childhood Cancer Retinoblastoma 73
Non-Hereditary Retinoblastoma 58
Malignant Neoplasm of Retina 71
Eye Cancer, Retinoblastoma 52
Neuroblastoma of Retina 12
Rb - Retinoblastoma 12
Retinal Neoplasms 71
Glioma, Retinal 25
Retinal Cancer 52
Retinal Tumor 52
Rb1 56

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31

GeneReviews:

24
Penetrance See genotype-phenotype correlations.

Classifications:

Orphanet: 58  
Rare eye diseases


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 Mitotic G1-G1/S phases. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and retina, and related phenotypes are retinoblastoma and strabismus

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 : 52 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 : 56 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 : 36 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 : 73 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 : 74 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 35.1 RBL2 RBL1 RB1 MYCN
2 unilateral retinoblastoma 35.1 RBL2 RBL1 RB1 MYCN
3 familial retinoblastoma 34.8 RBL1 RB1
4 ocular cancer 33.5 RBL2 RBL1 RB1 E2F1
5 retinal cancer 33.4 RBL2 RBL1 RB1 MYCN E2F1
6 small cell cancer of the lung 32.7 RB1 MALAT1 HOTAIR
7 cervical cancer 31.9 RB1 MIR503 MIR34A MEG3 MALAT1 HOTAIR
8 osteogenic sarcoma 31.2 RBL2 RB1 MEG3 MALAT1 HOTAIR E2F1
9 neuroblastoma 31.0 RB1 MYCN MIR34A MEG3 MALAT1 HOTAIR
10 medulloblastoma 30.8 RB1 PRDM2 MYCN MIR34A HOTAIR CCAT1
11 melanoma 30.6 RB1 MIR34A MEG3 MALAT1 HOTAIR E2F1
12 bladder cancer 30.6 RB1 MIR34A MEG3 MALAT1 HOTAIR E2F1
13 glioma 30.6 MIR34A MEG3 MALAT1 HOTAIR CCAT1
14 glioma susceptibility 1 30.3 MIR34A MEG3 MALAT1 HOTAIR
15 b-cell lymphoma 30.2 RB1 MIR34A MALAT1 HOTAIR
16 pituitary adenoma 30.2 MEG3 MALAT1 HOTAIR
17 bladder urothelial carcinoma 30.0 RB1 MEG3 MALAT1 HOTAIR
18 lung cancer susceptibility 3 30.0 RB1 MIR503 MEG3 MALAT1 HOTAIR E2F1
19 gastric cancer 30.0 RB1 PRDM2 MIR34A MEG3 MALAT1 HOTAIR
20 leukemia, acute myeloid 29.9 MYCN MIR34A MIR320A MEG3 MALAT1 HOTAIR
21 thyroid cancer, nonmedullary, 1 29.9 MEG3 MALAT1 HOTAIR BANCR
22 laryngeal squamous cell carcinoma 29.9 MIR34A MALAT1 HOTAIR CCAT1
23 gallbladder cancer 29.9 MEG3 MALAT1 HOTAIR CCAT1
24 malignant glioma 29.8 MEG3 MALAT1 HOTAIR CCAT1
25 esophageal cancer 29.7 RB1 MIR34A MEG3 MALAT1 HOTAIR CCAT1
26 hepatocellular carcinoma 29.7 RB1 PRDM2 MIR503 MIR34A MEG3 MALAT1
27 oral squamous cell carcinoma 29.7 MIR34A MEG3 MALAT1 HOTAIR CCAT1
28 ovarian cancer 29.3 RB1 MYCN MIR498 MIR34A MEG3 MALAT1
29 prostate cancer 29.2 RB1 MIR503 MIR498 MIR34A MIR320A MIR198
30 intraocular retinoblastoma 12.6
31 extraocular retinoblastoma 12.6
32 pediatric intraocular retinoblastoma 12.5
33 pediatric extraocular retinoblastoma 12.5
34 imprinting gene related to retinoblastoma 12.3
35 roberts syndrome 12.1
36 inherited cancer-predisposing syndrome 11.9
37 respiratory bronchiolitis-interstitial lung disease syndrome 11.6
38 chromosome 13q14 deletion syndrome 11.5
39 retinal disease 11.5
40 embryoma 11.5
41 autism 3 11.5
42 chromophobe renal cell carcinoma 11.4
43 idiopathic interstitial pneumonia 11.3
44 immunodeficiency 30 11.3
45 tongue carcinoma 11.2
46 norrie disease 11.2
47 sc phocomelia syndrome 11.1
48 desmoid tumor 11.1
49 gliosarcoma 11.1
50 hypotrichosis 11.1

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to Retinoblastoma

Symptoms & Phenotypes for Retinoblastoma

Human phenotypes related to Retinoblastoma:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinoblastoma 58 31 obligate (100%) Obligate (100%) HP:0009919
2 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
3 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
4 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
5 leukocoria 58 31 frequent (33%) Frequent (79-30%) HP:0000555
6 hypopyon 58 31 frequent (33%) Frequent (79-30%) HP:0031615
7 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
8 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
9 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
10 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
11 leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001909
12 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
13 osteosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002669
14 rhabdomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002859
15 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
16 retinal calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0007862
17 vitreous hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0007902
18 hyphema 58 31 occasional (7.5%) Occasional (29-5%) HP:0011886
19 subretinal pigment epithelium hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0025244
20 red eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0025337
21 leiomyosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100243
22 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
23 vitritis 31 occasional (7.5%) HP:0011531
24 cleft palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000175
25 glioma 58 31 very rare (1%) Very rare (<4-1%) HP:0009733
26 ewing sarcoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012254
27 pineoblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0030408
28 abnormal eye morphology 58 Occasional (29-5%)
29 pinealoma 31 HP:0010799

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Retinoblastoma

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

(show top 50) (show all 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
4
Nicotine Approved Phase 4 54-11-5 942 89594
5 Hormone Antagonists Phase 4
6 Hormones Phase 4
7 Anti-Infective Agents Phase 4
8 Antifungal Agents Phase 4
9 Cytochrome P-450 Enzyme Inhibitors Phase 4
10
Hydroxyitraconazole Phase 4
11 Cytochrome P-450 CYP3A Inhibitors Phase 4
12
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
13
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
14
Palbociclib Approved, Investigational Phase 3 571190-30-2 5005498 11431660 5330286
15
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
16 Anti-Infective Agents, Local Phase 3
17 Estrogen Antagonists Phase 3
18 Estrogen Receptor Antagonists Phase 3
19 Aromatase Inhibitors Phase 3
20 Estrogens Phase 3
21 Mitogens Phase 3
22 Protein Kinase Inhibitors Phase 3
23 Antibiotics, Antitubercular Phase 3
24
Liposomal doxorubicin Phase 3 31703
25 Anti-Bacterial Agents Phase 3
26 Podophyllotoxin Phase 3 518-28-5
27 Keratolytic Agents Phase 3
28
Ranibizumab Approved Phase 2 347396-82-1 459903
29
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
30
Goserelin Approved Phase 2 65807-02-5 5311128 47725
31
Bicalutamide Approved Phase 2 90357-06-5 2375 56069
32
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
33
Gemcitabine Approved Phase 2 95058-81-4 60750
34
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
35
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
36
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
37
Pertuzumab Approved Phase 1, Phase 2 380610-27-5, 145040-37-5 2540
38
Anastrozole Approved, Investigational Phase 1, Phase 2 120511-73-1 2187
39
Cetuximab Approved Phase 1, Phase 2 205923-56-4 56842117 2333
40
Iodine Approved, Investigational Phase 2 7553-56-2 807
41
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
42
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
43
Promethazine Approved, Investigational Phase 2 60-87-7 4927
44
Acetaminophen Approved Phase 2 103-90-2 1983
45
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
46
Melphalan Approved Phase 2 148-82-3 460612 4053
47
Metformin Approved Phase 2 657-24-9 14219 4091
48 Androgen Antagonists Phase 2
49 Androgens Phase 2
50 Nonsteroidal Anti-Androgens Phase 2

Interventional clinical trials:

(show top 50) (show all 145)
# 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 A Study of Unilateral Retinoblastoma With and Without Histopathologic High-Risk Features and the Role of Adjuvant Chemotherapy Unknown status NCT00335738 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
6 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
7 Trial of Systemic Neoadjuvant Chemotherapy for Group B Intraocular Retinoblastoma Completed NCT00079417 Phase 3 carboplatin;vincristine sulfate
8 GALOP II Protocol for the Treatment of Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
9 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 Recruiting NCT04047758 Phase 3 Palbociclib + Letrozole;Letrozole
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 Three Cycles Versus Six Cycles of Adjuvant Chemotherapy for the Patients With High-risk Retinoblastoma After Enucleation: Prospective Randomized Control Study Active, not recruiting NCT01906814 Phase 3 3 cycles chemotherapy;6 cycles chemotherapy
12 A Trial of Intensive Multi-Modality Therapy for Extra-Ocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Thiotepa;Vincristine Sulfate
13 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
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 A Randomized Phase II Study of Androgen Deprivation Therapy With or Without Palbociclib in RB-Positive Metastatic Hormone-Sensitive Prostate Cancer Completed NCT02059213 Phase 2 Ibrance;Bicalutamide;Zoladex;Lupron Depot
19 Treatment for Extrachoroidal or Metastatic Retinoblastoma Completed NCT00004006 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
20 Evaluation of Chemotherapy as Initial Treatment for Retinoblastoma Completed NCT00002794 Phase 2 carboplatin;vincristine sulfate
21 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
22 A TRIAL OF ADJUVANT CHEMOTHERAPY IN PATIENTS WITH INTRAOCULAR RETINOBLASTOMA Completed NCT00002675 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
23 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
24 Phase II Study of Arsenic Trioxide in Neuroblastoma and Other Pediatric Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
25 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
26 High-Dose Thiotepa With Autologous Stem Cell Rescue in Patients With Malignancies Refractory to Conventional Chemotherapy Completed NCT00003173 Phase 2 thiotepa
27 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
28 A Phase II Study of LEE011 (Ribociclib) in Patients With Advanced Neuroendocrine Tumors of Foregut Origin Completed NCT02420691 Phase 2 Ribociclib
29 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
30 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
31 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
32 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)
33 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
34 Abemaciclib for Treatment of Advanced Bone and Soft Tissue Sarcoma Identified as Having CDK Pathway Alteration Recruiting NCT04040205 Phase 2 Abemaciclib
35 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
36 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
37 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
38 A Phase 2 Study of Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
39 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
40 Targeted Therapy With CDK4/6 Inhibitors in Chemo-Refractory, Rb Wild-Type Extensive Small Cell Lung Cancer (SCLC), An Open Label Phase 2 Trial Recruiting NCT04010357 Phase 2 Abemaciclib,
41 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
42 CDK4/6 Inhibition in Locally Advanced/Metastatic Chordoma (NCT-PMO-1601) Recruiting NCT03110744 Phase 2 Palbociclib
43 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
44 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
45 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
46 Phase II Study Temozolomide for Retinoblastoma Metastatic to the Central Nervous System for Patients From Guatemala Terminated NCT01857752 Phase 2 Temozolomide
47 Intra-arterial Chemotherapy for the Treatment of Intraocular Retinoblastoma Terminated NCT01293539 Phase 2 Melphalan hydrochloride
48 A Phase II Trial of Proton Beam Radiation Therapy for Intra- and Periocular Retinoblastoma Terminated NCT00432445 Phase 2
49 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
50 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

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cyclophosphamide

Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

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

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

40
Eye, Breast, Retina, Lung, Prostate, Smooth Muscle, Bone

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 15956)
# 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. 24 56 6 61
12016586 2002
2
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. 61 6 56 54
10486322 1999
3
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. 6 56 54 61
1881452 1991
4
Detection of mosaic RB1 mutations in families with retinoblastoma. 24 61 54 56
19280657 2009
5
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 24 54 61 56
12541220 2003
6
Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. 56 24 54 61
9326321 1997
7
Spectrum of small length germline mutations in the RB1 gene. 56 61 6
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. 6 56 61
1352883 1992
9
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 61 56 6
2594029 1989
10
Mutations in the RB1 gene and their effects on transcription. 6 61 56
2601691 1989
11
RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 56 61 24
24688104 2014
12
Genotype-phenotype correlations in hereditary familial retinoblastoma. 61 24 56
17096365 2007
13
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma. 61 24 6
16988938 2007
14
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. 24 56 61
9342358 1997
15
Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. 56 24 61
8755916 1996
16
Expression of motility-related protein MRP1/CD9, N-cadherin, E-cadherin, alpha-catenin and beta-catenin in retinoblastoma. 54 56 61
17316610 2007
17
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. 61 54 6
17299438 2007
18
Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma. 56 54 61
12794701 2003
19
Structure and function of the N-cadherin/catenin complex in retinoblastoma. 61 56 54
11867572 2002
20
Molecular basis of low-penetrance retinoblastoma. 54 61 56
11709023 2001
21
Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing. 61 56 54
10631148 2000
22
Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). 56 61 54
9245987 1997
23
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 61 56 54
8651278 1996
24
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 61 54 6
8605116 1995
25
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 61 56 54
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. 6 54 61
7704558 1994
27
Cyclin A and the retinoblastoma gene product complex with a common transcription factor. 61 54 56
1830372 1991
28
Retinoblastoma in transgenic mice. 56 54 61
1689463 1990
29
Rb suppresses human cone-precursor-derived retinoblastoma tumours. 61 56
25252974 2014
30
A novel retinoblastoma therapy from genomic and epigenetic analyses. 61 56
22237022 2012
31
The human retinoblastoma gene is imprinted. 56 61
20041224 2009
32
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma. 61 24 54
18509746 2009
33
Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma. 24 61 54
18211953 2008
34
Secondary acute myelogenous leukemia in patients with retinoblastoma: is chemotherapy a factor? 61 56
17613328 2007
35
Retinoblastoma tumor vessel maturation impacts efficacy of vessel targeting in the LH(BETA)T(AG) mouse model. 56 61
17525173 2007
36
Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma. 56 61
17210724 2007
37
Diagnosis and current management of retinoblastoma. 56 61
16936756 2006
38
Late-onset retinoblastoma in a well-functioning fellow eye. 61 56
16631255 2006
39
Essential role of retinoblastoma protein in mammalian hair cell development and hearing. 56 61
16648263 2006
40
Abnormal gene expression profiles in unaffected parents of patients with hereditary-type retinoblastoma. 61 56
16585164 2006
41
Pineal cyst simulating pinealoblastoma in 11 children with retinoblastoma. 56 61
16606893 2006
42
The related retinoblastoma (pRb) and p130 proteins cooperate to regulate homeostasis in the intestinal epithelium. 56 61
16258171 2006
43
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 61 56
16463005 2006
44
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. 61 24 54
16127685 2005
45
Acidic fibroblast growth factor (FGF-1) and FGF receptor 1 signaling in human Y79 retinoblastoma. 61 56
15767480 2005
46
Proliferation of functional hair cells in vivo in the absence of the retinoblastoma protein. 56 61
15653467 2005
47
Human retinoblastoma cells are resistant to apoptosis induced by death receptors: role of caspase-8 gene silencing. 56 61
15623796 2005
48
Retinoblastoma protein functions as a molecular switch determining white versus brown adipocyte differentiation. 61 56
15024128 2004
49
Rapid identification of germline mutations in retinoblastoma by protein truncation testing. 61 56
14769601 2004
50
Acute mutation of retinoblastoma gene function is sufficient for cell cycle re-entry. 56 61
12853964 2003

Variations for Retinoblastoma

ClinVar genetic disease variations for Retinoblastoma:

6 (show top 50) (show all 798) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RB1 NC_000013.11:g.(?_48342599)_(48345199_?)deldeletion Pathogenic 417540 13:48916735-48919335 13:48342599-48345199
2 RB1 NM_000321.2(RB1):c.2029G>T (p.Glu677Ter)SNV Pathogenic 410885 rs1060503067 13:49033892-49033892 13:48459756-48459756
3 RB1 NM_000321.2(RB1):c.2194_2197del (p.Pro732fs)deletion Pathogenic 410922 rs1060503075 13:49037954-49037957 13:48463818-48463821
4 RB1 NM_000321.2(RB1):c.1696-12T>GSNV Pathogenic 410940 rs1060503088 13:49027117-49027117 13:48452981-48452981
5 RB1 NM_000321.2(RB1):c.1328C>A (p.Ser443Ter)SNV Pathogenic 410927 rs1060503079 13:48951166-48951166 13:48377030-48377030
6 RB1 NM_000321.2(RB1):c.1673_1674dup (p.Glu559fs)duplication Pathogenic 410928 rs1555286707 13:48955556-48955557 13:48381420-48381421
7 RB1 NM_000321.2(RB1):c.1960G>C (p.Val654Leu)SNV Pathogenic 410929 rs483352690 13:49030485-49030485 13:48456349-48456349
8 RB1 NM_000321.2(RB1):c.37_65del (p.Ala13fs)deletion Pathogenic 410951 rs1064792974 13:48878084-48878112 13:48303948-48303976
9 RB1 NM_000321.2(RB1):c.967G>T (p.Glu323Ter)SNV Pathogenic 410924 rs1060503077 13:48941657-48941657 13:48367521-48367521
10 RB1 NM_000321.2(RB1):c.19dup (p.Arg7fs)duplication Pathogenic 428670 rs1131690852 13:48878061-48878062 13:48303925-48303926
11 RB1 NM_000321.2(RB1):c.54_76dup (p.Pro26fs)duplication Pathogenic 428668 rs1555279210 13:48878093-48878094 13:48303957-48303958
12 RB1 NM_000321.2(RB1):c.644C>A (p.Ser215Ter)SNV Pathogenic 428743 rs768305224 13:48934189-48934189 13:48360053-48360053
13 RB1 NM_000321.2(RB1):c.751C>T (p.Arg251Ter)SNV Pathogenic 428681 rs1131690863 13:48936983-48936983 13:48362847-48362847
14 RB1 NM_000321.2(RB1):c.869del (p.Asn290fs)deletion Pathogenic 428726 rs1131690901 13:48939033-48939033 13:48364897-48364897
15 RB1 NM_000321.2(RB1):c.940-1G>ASNV Pathogenic 428678 rs1131690860 13:48941629-48941629 13:48367493-48367493
16 RB1 NM_000321.2(RB1):c.1345G>A (p.Gly449Arg)SNV Pathogenic 428669 rs1131690851 13:48953742-48953742 13:48379606-48379606
17 RB1 NM_000321.2(RB1):c.1706del (p.Leu569fs)deletion Pathogenic 428659 rs1131690842 13:49027137-49027137 13:48453001-48453001
18 RB1 NM_000321.2(RB1):c.2325+1G>ASNV Pathogenic 428709 rs1131690882 13:49039248-49039248 13:48465112-48465112
19 RB1 NM_000321.2(RB1):c.2520+1G>TSNV Pathogenic 428660 rs587778850 13:49047527-49047527 13:48473391-48473391
20 RB1 NM_000321.2(RB1):c.861G>C (p.Glu287Asp)SNV Pathogenic 458186 rs1555284956 13:48937093-48937093 13:48362957-48362957
21 RB1 NM_000321.2(RB1):c.1458del (p.Leu486fs)deletion Pathogenic 458123 rs1555286611 13:48954337-48954337 13:48380201-48380201
22 RB1 NC_000013.11:g.(?_48307274)_(48349029_?)deldeletion Pathogenic 458111 13:48881410-48923165 13:48307274-48349029
23 RB1 NM_000321.2(RB1):c.1278dup (p.Lys427Ter)duplication Pathogenic 458116 rs1555286236 13:48951113-48951114 13:48376977-48376978
24 RB1 NM_000321.2(RB1):c.2489+2T>CSNV Pathogenic 458151 rs1555294636 13:49039506-49039506 13:48465370-48465370
25 RB1 NM_000321.2(RB1):c.54_73dup (p.Pro25fs)duplication Pathogenic 458171 rs1555279212 13:48878094-48878095 13:48303958-48303959
26 RB1 NM_000321.2(RB1):c.1333-2A>GSNV Pathogenic 458120 rs1555286503 13:48953728-48953728 13:48379592-48379592
27 RB1 NM_000321.2(RB1):c.597_601dup (p.Ala201delinsAspTer)duplication Pathogenic 523357 rs1555283670 13:48923148-48923149 13:48349012-48349013
28 RB1 NC_000013.11:g.(?_48303907)_(48480077_?)deldeletion Pathogenic 527953 13:48878043-49054213 13:48303907-48480077
29 RB1 NC_000013.11:g.(?_48464992)_(48465374_?)deldeletion Pathogenic 527954 13:49039128-49039510 13:48464992-48465374
30 RB1 NM_000321.2(RB1):c.283A>T (p.Lys95Ter)SNV Pathogenic 527906 rs1555282775 13:48916753-48916753 13:48342617-48342617
31 RB1 NM_000321.2(RB1):c.1633_1640del (p.Glu545fs)deletion Pathogenic 527913 rs1555286695 13:48955517-48955524 13:48381381-48381388
32 RB1 NM_000321.2(RB1):c.1422-1G>ASNV Pathogenic 527931 rs1461382798 13:48954300-48954300 13:48380164-48380164
33 RB1 NM_000321.2(RB1):c.510del (p.Glu170fs)deletion Pathogenic 527905 rs1555283482 13:48921969-48921969 13:48347833-48347833
34 RB1 NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs)indel Pathogenic 527909 rs1555294626 13:49039465-49039468 13:48465329-48465332
35 RB1 NM_000321.2(RB1):c.380+3A>TSNV Pathogenic 527904 rs1555282811 13:48916853-48916853 13:48342717-48342717
36 RB1 NM_000321.2(RB1):c.861G>A (p.Glu287=)SNV Pathogenic 527929 rs1555284956 13:48937093-48937093 13:48362957-48362957
37 RB1 NM_000321.2(RB1):c.1332G>C (p.Gln444His)SNV Pathogenic 527917 rs1555286250 13:48951170-48951170 13:48377034-48377034
38 RB1 NM_000321.2(RB1):c.2211G>T (p.Glu737Asp)SNV Pathogenic 527898 rs587776787 13:49037971-49037971 13:48463835-48463835
39 RB1 NM_000321.2(RB1):c.2247_2248insAA (p.Asp750fs)insertion Pathogenic 527930 rs1555294600 13:49039169-49039170 13:48465033-48465034
40 RB1 NM_000321.2(RB1):c.1239_1240del (p.Ser414fs)deletion Pathogenic 527910 rs1555286220 13:48951076-48951077 13:48376940-48376941
41 RB1 NC_000013.11:g.(?_48476691)_(48477414_?)deldeletion Pathogenic 584131 13:49050827-49051550 13:48476691-48477414
42 RB1 NM_000321.2(RB1):c.1445_1446del (p.Phe482fs)deletion Pathogenic 576526 rs1566199059 13:48954321-48954322 13:48380185-48380186
43 RB1 NM_000321.2(RB1):c.1959dup (p.Val654fs)duplication Pathogenic 575455 rs1566234123 13:49030478-49030479 13:48456342-48456343
44 RB1 NM_000321.2(RB1):c.2172dup (p.Val725fs)duplication Pathogenic 573547 rs1566237098 13:49037930-49037931 13:48463794-48463795
45 RB1 NM_000321.2(RB1):c.772_776del (p.Asn258fs)deletion Pathogenic 576809 rs1566192530 13:48937001-48937005 13:48362865-48362869
46 RB1 NM_000321.2(RB1):c.2065C>T (p.Gln689Ter)SNV Pathogenic 572110 rs1566235470 13:49033928-49033928 13:48459792-48459792
47 RB1 NM_000321.2(RB1):c.2513C>G (p.Ser838Ter)SNV Pathogenic 579093 rs1131690908 13:49047519-49047519 13:48473383-48473383
48 RB1 NM_000321.2(RB1):c.2520+5G>TSNV Pathogenic 567155 rs1131690881 13:49047531-49047531 13:48473395-48473395
49 RB1 NC_000013.11:g.(?_48303903)_(48480081_?)deldeletion Pathogenic 583677 13:48878039-49054217 13:48303903-48480081
50 RB1 NC_000013.11:g.(?_48345074)_(48345205_?)deldeletion Pathogenic 583949 13:48919210-48919341 13:48345074-48345205

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

73 (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 top 50) (show all 55)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86647435 RB1 eye,retina,retinoblastoma,NS c.2106+2T>G p.? 13:48459835-48459835 18
2 COSM86634466 RB1 eye,retina,retinoblastoma,NS c.380+1G>T p.? 13:48342715-48342715 18
3 COSM86624550 RB1 eye,retina,retinoblastoma,NS c.1333C>T p.R445* 13:48379594-48379594 18
4 COSM86651352 RB1 eye,retina,retinoblastoma,NS c.1421G>A p.S474N 13:48380084-48380084 18
5 COSM86624126 RB1 eye,retina,retinoblastoma,NS c.751C>T p.R251* 13:48362847-48362847 18
6 COSM86624950 RB1 eye,retina,retinoblastoma,NS c.1183C>T p.Q395* 13:48373460-48373460 18
7 COSM86626226 RB1 eye,retina,retinoblastoma,NS c.958C>T p.R320* 13:48367512-48367512 18
8 COSM86647609 RB1 eye,retina,retinoblastoma,NS c.1960+2T>C p.? 13:48456351-48456351 18
9 COSM86625405 RB1 eye,retina,retinoblastoma,NS c.1666C>T p.R556* 13:48381414-48381414 18
10 COSM86626205 RB1 eye,retina,retinoblastoma,NS c.1363C>T p.R455* 13:48379624-48379624 18
11 COSM86628490 RB1 eye,retina,retinoblastoma,NS c.763C>T p.R255* 13:48362859-48362859 18
12 COSM86642443 RB1 eye,retina,retinoblastoma,NS c.2527G>T p.E843* 13:48476707-48476707 18
13 COSM86636835 RB1 eye,retina,retinoblastoma,NS c.2326-2A>C p.? 13:48465203-48465203 18
14 COSM86633737 RB1 eye,retina,retinoblastoma,NS c.967G>T p.E323* 13:48367521-48367521 18
15 COSM86624252 RB1 eye,retina,retinoblastoma,NS c.1215+1G>A p.? 13:48373493-48373493 18
16 COSM86631349 RB1 eye,retina,retinoblastoma,NS c.2158A>T p.K720* 13:48463782-48463782 18
17 COSM86627680 RB1 eye,retina,retinoblastoma,NS c.1166T>A p.L389* 13:48373443-48373443 18
18 COSM86638492 RB1 eye,retina,retinoblastoma,NS c.1216-2A>G p.? 13:48376916-48376916 18
19 COSM86629052 RB1 eye,retina,retinoblastoma,NS c.1961-1G>A p.? 13:48459687-48459687 18
20 COSM86640644 RB1 eye,retina,retinoblastoma,NS c.1467C>A p.C489* 13:48380210-48380210 18
21 COSM86635450 RB1 eye,retina,retinoblastoma,NS c.2053C>T p.Q685* 13:48459780-48459780 18
22 COSM86637950 RB1 eye,retina,retinoblastoma,NS c.265-2A>C p.? 13:48342597-48342597 18
23 COSM86629160 RB1 eye,retina,retinoblastoma,NS c.409G>T p.E137* 13:48345108-48345108 18
24 COSM86624395 RB1 eye,retina,retinoblastoma,NS c.2520+4A>G p.? 13:48473394-48473394 18
25 COSM86640590 RB1 eye,retina,retinoblastoma,NS c.1891C>T p.Q631* 13:48456280-48456280 18
26 COSM86656361 RB1 eye,retina,retinoblastoma,NS c.982A>C p.N328H 13:48367536-48367536 18
27 COSM86630951 RB1 eye,retina,retinoblastoma,NS c.1654C>T p.R552* 13:48381402-48381402 18
28 COSM86631559 RB1 eye,retina,retinoblastoma,NS c.1049+1G>T p.? 13:48367604-48367604 18
29 COSM86632900 RB1 eye,retina,retinoblastoma,NS c.2063T>C p.L688P 13:48459790-48459790 18
30 COSM86649095 RB1 eye,retina,retinoblastoma,NS c.2106+1G>T p.? 13:48459834-48459834 18
31 COSM86626876 RB1 eye,retina,retinoblastoma,NS c.2206C>T p.Q736* 13:48463830-48463830 18
32 COSM86637333 RB1 eye,retina,retinoblastoma,NS c.341C>A p.S114* 13:48342675-48342675 18
33 COSM86632739 RB1 eye,retina,retinoblastoma,NS c.1960+1G>A p.? 13:48456350-48456350 18
34 COSM86630352 RB1 eye,retina,retinoblastoma,NS c.862-5T>G p.? 13:48364889-48364889 18
35 COSM86632080 RB1 eye,retina,retinoblastoma,NS c.160G>T p.E54* 13:48307302-48307302 18
36 COSM86654450 RB1 eye,retina,retinoblastoma,NS c.2152G>A p.D718N 13:48463776-48463776 18
37 COSM86640621 RB1 eye,retina,retinoblastoma,NS c.1389+1G>C p.? 13:48379651-48379651 18
38 COSM86648958 RB1 eye,retina,retinoblastoma,NS c.1494T>A p.Y498* 13:48380237-48380237 18
39 COSM87132285 PIK3CA eye,retina,retinoblastoma,NS c.1634A>G p.E545G 3:179218304-179218304 18
40 COSM87804005 KRAS eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
41 COSM87804055 KRAS eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
42 COSM91859716 eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
43 COSM134990158 eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
44 COSM134614922 eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
45 COSM134990112 eye,retina,retinoblastoma,NS c.35G>A p.G12D 12:25245350-25245350 18
46 COSM148932691 eye,retina,retinoblastoma,NS c.1634A>G p.E545G 3:179218304-179218304 18
47 COSM134614978 eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
48 COSM150688162 eye,retina,retinoblastoma,NS c.160G>T p.E54* 13:48307302-48307302 18
49 COSM91859752 eye,retina,retinoblastoma,NS c.35G>T p.G12V 12:25245350-25245350 18
50 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 3

Copy number variations for Retinoblastoma from CNVD:

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

Expression for Retinoblastoma

Search GEO for disease gene expression data for Retinoblastoma.

Pathways for Retinoblastoma

Pathways related to Retinoblastoma according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110

Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 RBL2 RBL1 RBBP4 RB1 E2F1
2 12.22 RBL2 RBL1 RB1 E2F1
3 12.14 RBL2 RBL1 RB1 E2F1
4
Show member pathways
12.11 RBL2 RBL1 RB1 E2F1
5 11.85 RBL2 RBL1 RBBP4 RB1 E2F1
6 11.79 RBL2 RBL1 RB1 E2F1
7
Show member pathways
11.72 RBL2 RBL1 E2F1
8 11.63 RBBP4 RB1 E2F1
9 11.44 RBL2 RB1 E2F1
10 11.22 RBL2 RBL1 RBBP4 RB1 E2F1
11
Show member pathways
11.17 RBL2 RBL1 RBBP4 RB1
12
Show member pathways
10.95 RBL2 RBL1 RBBP4 RB1 E2F1
13 10.92 RB1 E2F1
14 10.89 RB1 E2F1
15 10.7 RBL2 RBL1 RB1
16 10.57 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 9.46 RBL2 RBL1 RB1 E2F1
2 chromatin GO:0000785 9.26 RBL2 RBL1 RB1 MYCN
3 Rb-E2F complex GO:0035189 8.62 RB1 E2F1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.92 RBL2 RBL1 RBBP4 RB1 E2F1
2 chromatin organization GO:0006325 9.87 RBL2 RBL1 RBBP4 RB1
3 negative regulation of gene expression GO:0010629 9.77 RBL2 RBL1 RB1 MYCN MIR492
4 cellular response to hypoxia GO:0071456 9.73 MIR34A MALAT1 E2F1
5 negative regulation of angiogenesis GO:0016525 9.71 MIR503 MIR492 MIR34A
6 gene silencing by miRNA GO:0035195 9.7 MIR503 MIR498 MIR492 MIR34A MIR320A MIR198
7 regulation of mitotic cell cycle GO:0007346 9.67 RBL2 RBL1 RB1
8 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.63 RBL2 RBL1 RB1
9 negative regulation of G0 to G1 transition GO:0070317 9.58 RBBP4 MIR503 E2F1
10 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.55 MIR503 MIR34A
11 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.51 MIR34A MIR320A
12 regulation of cell division GO:0051302 9.48 RBL2 RBL1
13 cellular response to xenobiotic stimulus GO:0071466 9.43 RB1 E2F1
14 negative regulation of vascular endothelial cell proliferation GO:1905563 9.43 MIR503 MIR492 MIR34A
15 regulation of cell cycle GO:0051726 9.35 RBL2 RBL1 RBBP4 RB1 E2F1
16 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.32 RB1 E2F1
17 regulation of lipid kinase activity GO:0043550 8.8 RBL2 RBL1 RB1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.35 MIR503 MIR492 MIR34A MIR320A MIR198
2 RNA polymerase II activating transcription factor binding GO:0001102 9.33 RBL2 RBL1 RB1
3 RNA polymerase II regulatory region DNA binding GO:0001012 8.8 RBL2 RBL1 RB1

Sources for Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA