MCID: FML008
MIFTS: 53

Familial Retinoblastoma

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

Aliases & Classifications for Familial Retinoblastoma

MalaCards integrated aliases for Familial Retinoblastoma:

Name: Familial Retinoblastoma 12 15 71
Retinoblastoma 43 71
Hereditary Retinoblastoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4648
MeSH 43 D012175
NCIt 49 C8495
UMLS 71 C0035335 C0751483

Summaries for Familial Retinoblastoma

MalaCards based summary : Familial Retinoblastoma, also known as retinoblastoma, is related to squamous cell papilloma and suppressor of tumorigenicity 3. An important gene associated with Familial Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include breast, eye and lung, and related phenotypes are cellular and growth/size/body region

Related Diseases for Familial Retinoblastoma

Diseases in the Retinoblastoma family:

Familial Retinoblastoma

Diseases related to Familial Retinoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 787)
# Related Disease Score Top Affiliating Genes
1 squamous cell papilloma 31.2 TP53 CDKN2A
2 suppressor of tumorigenicity 3 31.0 TP53 RB1 CDKN2A
3 papilloma 30.9 TP53 RBL1 RB1 CDKN2A
4 cervix uteri carcinoma in situ 30.6 TP53 RB1 CDKN2A
5 soft tissue sarcoma 30.4 TP53 MDM2
6 vulvar intraepithelial neoplasia 30.4 TP53 CDKN2A
7 merkel cell carcinoma 30.4 TP53 RB1 CDKN2A
8 adenocarcinoma 30.3 TP53 RB1 MDM2 CDKN2A CDK4
9 unilateral retinoblastoma 30.2 RBL1 RB1 E2F3
10 pleomorphic lipoma 30.2 TSPAN31 MDM2 CDK4
11 lung benign neoplasm 30.2 TP53 RB1 CDKN2A
12 malignant fibrous histiocytoma 30.1 TP53 RECQL4 MDM2 CDK4
13 gallbladder adenoma 30.1 RB1 CDKN2A
14 rhabdomyosarcoma 30.1 TP53 RB1 MDM2 CDKN2A CDK4
15 conjunctival squamous cell carcinoma 30.0 TP53 RB1
16 spindle cell lipoma 30.0 RB1 MDM2 CDK4
17 skin melanoma 30.0 TP53 MDM2 CDKN2A
18 leukemia, acute lymphoblastic 29.9 TP53 RB1 MDM2 CDKN2A CDK4
19 actinic cheilitis 29.9 TP53 MDM2
20 b-cell lymphoma 29.8 TP53 RB1 MDM2 CDKN2A CDK4
21 glioma susceptibility 1 29.8 TP53 MDM2 CDKN2A CDK4
22 small cell cancer of the lung 29.8 TP53 RB1 CDKN2A
23 ring chromosome 29.8 TP53 MDM2 CDK4
24 embryonal rhabdomyosarcoma 29.8 TP53 MDM2 CDK4
25 embryonal sarcoma 29.8 TP53 MDM2 CDK4
26 glioma 29.7 TP53 NF1 MDM2 CDKN2A CDK4
27 pleomorphic adenoma 29.7 TP53 MDM2 CDKN2A
28 telangiectatic osteogenic sarcoma 29.7 PRIM1 MDM2
29 myxoid liposarcoma 29.7 TP53 MDM2 CDK4
30 well-differentiated liposarcoma 29.6 TSPAN31 TP53 MDM2 CDKN2A CDK4
31 leiomyosarcoma 29.6 TP53 RB1 NF1 MDM2 CDKN2A CDK4
32 melanoma, uveal 29.6 TP53 NF1 MDM2 CDKN2A CDK4
33 neuroblastoma 29.6 TP53 RB1 NF1 MDM2 CDKN2A CDK4
34 ovary adenocarcinoma 29.5 TP53 MDM2 CDKN2A
35 hutchinson-gilford progeria syndrome 29.5 WRN TP53 CDKN2A
36 pleomorphic liposarcoma 29.5 MDM2 CDKN2A CDK4
37 lipomatosis, multiple 29.5 TSPAN31 NF1 MDM2 CDK4
38 rhabdomyosarcoma 2 29.5 RB1 MDM2 CDK4
39 bladder urothelial carcinoma 29.5 TP53 RB1 MDM2 CDKN2A
40 malignant glioma 29.5 TP53 MDM2 CDKN2A CDK4
41 liposarcoma 29.5 TSPAN31 TP53 RB1 MDM2 CDKN2A CDK4
42 suppression of tumorigenicity 12 29.5 TP53 MDM2 CDKN2A CDK4
43 diffuse large b-cell lymphoma 29.4 TP53 MDM2 CDKN2A CDK4
44 uterine carcinosarcoma 29.4 TP53 RB1 MDM2 CDKN2A
45 ewing sarcoma 29.3 TP53 NF1 MDM2 CDKN2A CDK4
46 colorectal adenocarcinoma 29.3 TP53 MDM2 CDKN2A
47 sarcoma 29.2 TSPAN31 TP53 RB1 MDM2 CDK4
48 cerebellum cancer 29.1 TP53 NF1
49 mantle cell lymphoma 29.1 TP53 RB1 MDM2 CDKN2A CDK4
50 medulloblastoma 29.1 WRN TP53 RB1 NF1 MDM2 CDKN2A

Graphical network of the top 20 diseases related to Familial Retinoblastoma:



Diseases related to Familial Retinoblastoma

Symptoms & Phenotypes for Familial Retinoblastoma

MGI Mouse Phenotypes related to Familial Retinoblastoma:

45 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
2 growth/size/body region MP:0005378 10.5 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F6
3 behavior/neurological MP:0005386 10.46 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F6
4 cardiovascular system MP:0005385 10.42 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F7
5 endocrine/exocrine gland MP:0005379 10.42 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
6 mortality/aging MP:0010768 10.42 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
7 embryo MP:0005380 10.4 CDK4 CDKN2A E2F3 E2F4 E2F7 E2F8
8 immune system MP:0005387 10.36 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F6
9 integument MP:0010771 10.35 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
10 craniofacial MP:0005382 10.34 CDK4 E2F3 E2F4 E2F5 MDM2 NF1
11 hematopoietic system MP:0005397 10.34 CDK4 CDKN2A E2F2 E2F4 E2F6 MDM2
12 digestive/alimentary MP:0005381 10.33 CDK4 CDKN2A E2F3 E2F4 MDM2 NF1
13 normal MP:0002873 10.18 CDK4 E2F2 E2F3 E2F4 E2F6 E2F7
14 nervous system MP:0003631 10.17 CDK4 CDKN2A E2F2 E2F3 E2F5 E2F6
15 neoplasm MP:0002006 10.16 CDK4 CDKN2A E2F4 MDM2 NF1 RB1
16 liver/biliary system MP:0005370 10.11 CDK4 CDKN2A E2F2 MDM2 NF1 RB1
17 limbs/digits/tail MP:0005371 10.07 MDM2 NF1 RB1 RBL1 RECQL4 TP53
18 reproductive system MP:0005389 10.03 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F6
19 muscle MP:0005369 10.02 CDK4 CDKN2A MDM2 NF1 RB1 RBL1
20 pigmentation MP:0001186 9.91 CDK4 CDKN2A MDM2 NF1 RB1 RECQL4
21 renal/urinary system MP:0005367 9.87 CDK4 E2F2 MDM2 NF1 RB1 RBL1
22 respiratory system MP:0005388 9.85 CDKN2A E2F2 E2F3 E2F4 E2F7 E2F8
23 skeleton MP:0005390 9.8 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F6
24 vision/eye MP:0005391 9.32 CDK4 CDKN2A E2F2 E2F3 NF1 RB1

Drugs & Therapeutics for Familial Retinoblastoma

Drugs for Familial 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 Anti-Infective Agents Phase 4
6 Antifungal Agents Phase 4
7 Hormone Antagonists Phase 4
8 Hormones 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
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 5005498 11431660 5330286
17 Anti-Infective Agents, Local Phase 3
18 Estrogen Antagonists Phase 3
19 Estrogen Receptor Antagonists Phase 3
20 Aromatase Inhibitors Phase 3
21 Estrogens Phase 3
22 Mitogens Phase 3
23 topoisomerase I inhibitors Phase 3
24 Antibiotics, Antitubercular Phase 3
25
Liposomal doxorubicin Phase 3 31703
26 Anti-Bacterial Agents Phase 3
27 Protein Kinase Inhibitors Phase 3
28 Podophyllotoxin Phase 3 518-28-5
29 Keratolytic Agents Phase 3
30
Ranibizumab Approved Phase 2 347396-82-1 459903
31
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
32
Gemcitabine Approved Phase 2 95058-81-4 60750
33
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
34
Goserelin Approved Phase 2 65807-02-5 5311128 47725
35
Bicalutamide Approved Phase 2 90357-06-5 2375 56069
36
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
37
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
38
Pertuzumab Approved Phase 1, Phase 2 380610-27-5, 145040-37-5 2540
39
Anastrozole Approved, Investigational Phase 1, Phase 2 120511-73-1 2187
40
Cetuximab Approved Phase 1, Phase 2 205923-56-4 56842117 2333
41
Iodine Approved, Investigational Phase 2 7553-56-2 807
42
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
43
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
44
Promethazine Approved, Investigational Phase 2 60-87-7 4927
45
Acetaminophen Approved Phase 2 103-90-2 1983
46
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
47
Melphalan Approved Phase 2 148-82-3 460612 4053
48
Metformin Approved Phase 2 657-24-9 14219 4091
49 Antiviral Agents Phase 2
50 3-Iodobenzylguanidine Phase 2

Interventional clinical trials:

(show top 50) (show all 144)
# 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 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
11 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
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 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
16 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
17 Chemotherapy Plus Local Surgical Treatment in Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2 Carboplatin;VP-16
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 Phase II Study of Arsenic Trioxide in Neuroblastoma and Other Pediatric Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
24 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
25 High-Dose Thiotepa With Autologous Stem Cell Rescue in Patients With Malignancies Refractory to Conventional Chemotherapy Completed NCT00003173 Phase 2 thiotepa
26 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
27 A Phase II Study of LEE011 (Ribociclib) in Patients With Advanced Neuroendocrine Tumors of Foregut Origin Completed NCT02420691 Phase 2 Ribociclib
28 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
29 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
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 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
35 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
36 Protocol for the Study and Treatment of Participants With Intraocular Retinoblastoma Recruiting NCT01783535 Phase 2 vincristine;topotecan;filgrastim;PEG-filgrastim;carboplatin;etoposide;cyclophosphamide;MESNA;doxorubicin
37 A Phase 2 Study of Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
38 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
39 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,
40 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
41 Abemaciclib for Treatment of Advanced Bone and Soft Tissue Sarcoma Identified as Having CDK Pathway Alteration Recruiting NCT04040205 Phase 2 Abemaciclib
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 Familial Retinoblastoma

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


Cyclophosphamide

Cochrane evidence based reviews: retinoblastoma

Genetic Tests for Familial Retinoblastoma

Anatomical Context for Familial Retinoblastoma

MalaCards organs/tissues related to Familial Retinoblastoma:

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

Publications for Familial Retinoblastoma

Articles related to Familial Retinoblastoma:

(show top 50) (show all 15929)
# Title Authors PMID Year
1
Cytogenetic abnormalities in patients with newly diagnosed multiple myeloma as a secondary primary malignancy: a retrospective study. 61
32345147 2020
2
Effectively suppressed angiogenesis-mediated retinoblastoma growth using celastrol nanomicelles. 61
32091275 2020
3
Inhibiting effect of MicroRNA-3619-5p/PSMD10 axis on liver cancer cell growth in vivo and in vitro. 61
32437796 2020
4
PRDM14 promotes malignant phenotype and correlates with poor prognosis in colorectal cancer. 61
31741141 2020
5
Outcome at the end of treatment of patients with common and curable childhood cancer types in Blantyre, Malawi. 61
32391955 2020
6
Abnormal Red Reflex: Etiologies in a Pediatric Ophthalmology Population. 61
32503396 2020
7
Glaucoma as the presenting sign of intraocular tumors: beware of the masquerading sign. 61
32198607 2020
8
HSulf‑1 and palbociclib exert synergistic antitumor effects on RB‑positive triple‑negative breast cancer. 61
32377705 2020
9
Linking population-based registries to identify familial cancer risk in childhood cancer. 61
32315449 2020
10
Enucleated globes with advanced retinoblastoma: correlation of histopathological features and reclassification of tumors according to the 8th edition of the American Joint Committee on Cancer (AJCC). 61
32193778 2020
11
Dysregulation of miR-204-3p Driven by the Viability and Motility of Retinoblastoma via Wnt/β-catenin Pathway In Vitro and In Vivo. 61
31482398 2020
12
Whole-body magnetic resonance imaging as surveillance for subsequent malignancies in preadolescent, adolescent, and young adult survivors of germline retinoblastoma: An update. 61
32386119 2020
13
Circular RNA (circ-0075804) promotes the proliferation of retinoblastoma via combining heterogeneous nuclear ribonucleoprotein K (HNRNPK) to improve the stability of E2F transcription factor 3 E2F3. 61
32065448 2020
14
A Rare Association of Retinoblastoma With Incontinentia Pigmenti. 61
32287098 2020
15
High levels of global genome methylation in patients with retinoblastoma. 61
32565997 2020
16
The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma. 61
32434110 2020
17
Ribociclib mitigates cisplatin-associated kidney injury through retinoblastoma-1 dependent mechanisms. 61
32229099 2020
18
Intra-arterial chemotherapy for retinoblastoma via the transradial route: Technique, feasibility, and case series. 61
32283473 2020
19
Selective repression of the Drosophila cyclin B promoter by retinoblastoma and E2F proteins. 61
32275964 2020
20
Low-intensity light-induced drug release from a dual delivery system comprising of a drug loaded liposome and a photosensitive conjugate. 61
31886709 2020
21
Restriction point regulation at the crossroads between quiescence and cell proliferation. 61
32564372 2020
22
Patients, Public and Service Users are Experts by Experience: An Overview from Ophthalmology Research in Canada, UK and Beyond. 61
32114666 2020
23
Ocular and Periocular Tumors in Asian Indian Children and Adolescents. 61
32221055 2020
24
Clear-cell variant of superficial cutaneous leiomyosarcoma associated with RB1 mutation: Clinical, dermoscopic, and histopathological characteristics. 61
31999365 2020
25
Red reflex examination in reproductive and child health clinics for early detection of paediatric cataract and ocular media disorders: cross-sectional diagnostic accuracy and feasibility studies from Kilimanjaro, Tanzania. 61
32546747 2020
26
Role of RB1 in human embryonic stem cell-derived retinal organoids. 61
32197890 2020
27
Inhibition of Rb phosphorylation leads to H2S-mediated inhibition of NF-kB in acute pancreatitis and associated lung injury in mice. 61
32402695 2020
28
Cell stemness is maintained upon concurrent expression of RB and the mitochondrial ribosomal protein S18-2. 61
32571933 2020
29
RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors. 61
32086342 2020
30
Pineoblastoma in children less than six years of age: The Head Start I, II, and III experience. 61
32187454 2020
31
MCPIP1 overexpression in human neuroblastoma cell lines causes cell-cycle arrest by G1/S checkpoint block. 61
31919874 2020
32
Clinical relevance of the comparative expression of immune checkpoint markers with the clinicopathological findings in patients with primary and chemoreduced retinoblastoma. 61
32100078 2020
33
Long non-coding RNA TP73-AS1 promotes TFAP2B-mediated proliferation, metastasis and invasion in retinoblastoma via decoying of miRNA-874-3p. 61
32067207 2020
34
Long Noncoding RNA ZFPM2-AS1 Knockdown Restrains the Development of Retinoblastoma by Modulating the MicroRNA-515/HOXA1/Wnt/β-Catenin Axis. 61
32561925 2020
35
LncRNA LINC00152 Increases the Aggressiveness of Human Retinoblastoma and Enhances Carboplatin and Adriamycin Resistance by Regulating MiR-613/Yes-Associated Protein 1 (YAP1) Axis. 61
32541644 2020
36
Molecular Genetics of Intraocular Tumors. 61
32507011 2020
37
Preimplantation genetic diagnosis for retinoblastoma survivors: a cost-effectiveness study. 61
32577540 2020
38
Functional genomics identifies new synergistic therapies for retinoblastoma. 61
32572160 2020
39
Benefit of Patching Therapy to Minimize Amblyopia After Retinoblastoma Treatment. 61
32507274 2020
40
Covid-19 and retinoblastoma: How we manage it. 61
32552159 2020
41
Sclero-conjunctival ischaemia secondary to intra-arterial chemotherapy for retinoblastoma. 61
32149200 2020
42
Clinical relevance of B7H3 expression in retinoblastoma. 61
32576886 2020
43
Let's Make Retinoblastoma a Zero-Death Cancer. 61
32507277 2020
44
Hypoxia-induced lncRNA ANRIL promotes cisplatin resistance in retinoblastoma cells through regulating ABCG2 expression. 61
32173903 2020
45
Expression Changes and Impact of the Extracellular Matrix on Etoposide Resistant Human Retinoblastoma Cell Lines. 61
32560557 2020
46
Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma. 61
32556071 2020
47
Impact of Systemic Chemotherapy and Delayed Enucleation on Survival of Children with Advanced Intraocular Retinoblastoma. 61
32387053 2020
48
Proteomic Profiling of Retinoblastoma-Derived Exosomes Reveals Potential Biomarkers of Vitreous Seeding. 61
32545553 2020
49
MiR-486-3p inhibits the proliferation, migration and invasion of retinoblastoma cells by targeting ECM1. 61
32401301 2020
50
Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult. 61
32543965 2020

Variations for Familial Retinoblastoma

Expression for Familial Retinoblastoma

Search GEO for disease gene expression data for Familial Retinoblastoma.

Pathways for Familial Retinoblastoma

Pathways related to Familial Retinoblastoma according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 TP53 RBL1 RB1 NF1 MDM2 E2F5
2
Show member pathways
13.72 TP53 RB1 MDM2 E2F5 E2F4 E2F3
3
Show member pathways
13.5 WRN TP53 RBL1 RB1 PRIM1 MDM2
4
Show member pathways
13.17 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
5
Show member pathways
13.01 WRN TP53 RBL1 MDM2 E2F7 E2F4
6
Show member pathways
12.98 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
7
Show member pathways
12.91 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
8
Show member pathways
12.88 RB1 E2F3 E2F2 CDKN2A CDK4
9 12.88 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
10
Show member pathways
12.85 TP53 RB1 MDM2 E2F3 E2F2 CDK4
11
Show member pathways
12.8 TP53 RB1 E2F3 E2F2 CDKN2A CDK4
12
Show member pathways
12.78 TP53 RBL1 RB1 MDM2 E2F5 E2F4
13
Show member pathways
12.77 TP53 RB1 NF1 MDM2 E2F3 E2F2
14 12.61 WRN TP53 RECQL4 RB1 PRIM1 MDM2
15 12.57 TP53 MDM2 E2F3 E2F2 CDKN2A
16
Show member pathways
12.51 RB1 E2F5 E2F4 E2F3 E2F2
17 12.47 TP53 RBL1 RB1 E2F4 CDK4
18
Show member pathways
12.42 TP53 RB1 MDM2 CDKN2A CDK4
19 12.42 TP53 RB1 E2F3 E2F2 CDKN2A CDK4
20
Show member pathways
12.41 TP53 RBL1 RB1 E2F5 E2F4 E2F3
21 12.37 TP53 RBL1 RB1 MDM2 CDKN2A CDK4
22
Show member pathways
12.37 TP53 RB1 MDM2 E2F5 E2F4 E2F3
23
Show member pathways
12.29 TP53 RB1 MDM2 E2F4 E2F2 CDK4
24
Show member pathways
12.24 RB1 E2F4 CDKN2A CDK4
25 12.2 TP53 RB1 NF1 MDM2 CDK4
26 12.11 TP53 RBL1 E2F5 E2F4
27 12.06 TP53 RB1 E2F5 CDK4
28 12.06 TP53 RBL1 RB1 MDM2 E2F6 E2F5
29 12.05 TP53 RBL1 RB1 MDM2 E2F5 E2F4
30 12 TP53 RB1 NF1 MDM2 E2F5 E2F4
31 11.99 TP53 RB1 MDM2 CDKN2A
32
Show member pathways
11.97 TP53 RBL1 E2F7 E2F4
33 11.97 TP53 RB1 PRIM1 MDM2 E2F3 E2F2
34 11.95 TP53 RB1 E2F3 E2F2 CDK4
35
Show member pathways
11.94 TP53 RB1 E2F5 E2F4 E2F3 E2F2
36
Show member pathways
11.92 TP53 RBL1 RB1 PRIM1 MDM2 E2F6
37 11.86 RBL1 E2F5 E2F4
38
Show member pathways
11.85 RBL1 RB1 E2F6 E2F5 E2F4 E2F3
39 11.84 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
40 11.83 RBL1 RB1 E2F7 E2F6 E2F5 E2F4
41 11.8 TP53 E2F3 CDK4
42
Show member pathways
11.75 TP53 MDM2 CDKN2A
43 11.75 TP53 MDM2 CDKN2A
44 11.73 TP53 RB1 MDM2 CDKN2A
45 11.63 RB1 MDM2 E2F4
46 11.61 TP53 MDM2 CDKN2A
47
Show member pathways
11.59 RBL1 RB1 E2F4
48 11.58 TP53 RB1 CDKN2A
49 11.57 TP53 RB1 MDM2 CDK4
50 11.51 TP53 MDM2 CDK4

GO Terms for Familial Retinoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.22 WRN TP53 RECQL4 RBL1 RB1 NF1
2 nucleoplasm GO:0005654 10.03 WRN TP53 RBL1 RB1 PRIM1 MDM2
3 nucleolus GO:0005730 9.97 WRN TP53 NF1 MDM2 E2F8 E2F5
4 nuclear chromatin GO:0000790 9.86 TP53 E2F8 E2F7 E2F6 E2F5 E2F4
5 RNA polymerase II transcription factor complex GO:0090575 9.5 E2F8 E2F7 E2F6 E2F5 E2F4 E2F3
6 transcription factor complex GO:0005667 9.36 TP53 RBL1 RB1 E2F8 E2F7 E2F6

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 TP53 RB1 E2F8 E2F7 E2F6 E2F5
2 positive regulation of transcription by RNA polymerase II GO:0045944 10 TP53 RBL1 RB1 E2F8 E2F7 E2F6
3 negative regulation of cell proliferation GO:0008285 9.97 TP53 RB1 NF1 E2F7 CDKN2A
4 negative regulation of gene expression GO:0010629 9.94 TP53 RBL1 RB1 MDM2
5 regulation of cell proliferation GO:0042127 9.9 TP53 NF1 E2F4 CDK4
6 negative regulation of transcription by RNA polymerase II GO:0000122 9.9 TP53 RBL1 RB1 MDM2 E2F8 E2F7
7 G1/S transition of mitotic cell cycle GO:0000082 9.8 RB1 PRIM1 E2F3 CDKN2A CDK4
8 negative regulation of protein kinase activity GO:0006469 9.79 RB1 NF1 CDKN2A
9 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.77 RBL1 RB1 E2F7 CDKN2A CDK4
10 Ras protein signal transduction GO:0007265 9.73 TP53 RB1 NF1 CDKN2A
11 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.72 TP53 MDM2 E2F8 E2F7 E2F4
12 cell cycle GO:0007049 9.7 TP53 RBL1 RB1 E2F8 E2F7 E2F6
13 cellular response to gamma radiation GO:0071480 9.67 WRN TP53 MDM2
14 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.65 TP53 E2F7
15 DNA unwinding involved in DNA replication GO:0006268 9.65 WRN RECQL4
16 trophoblast giant cell differentiation GO:0060707 9.64 E2F8 E2F7
17 cardiac septum morphogenesis GO:0060411 9.63 TP53 MDM2
18 replicative senescence GO:0090399 9.63 TP53 CDKN2A
19 hepatocyte differentiation GO:0070365 9.62 E2F8 E2F7
20 amyloid fibril formation GO:1990000 9.62 MDM2 CDKN2A
21 telomeric D-loop disassembly GO:0061820 9.61 WRN RECQL4
22 negative regulation of neuroblast proliferation GO:0007406 9.59 TP53 NF1
23 DNA strand renaturation GO:0000733 9.58 TP53 RECQL4
24 cellular response to UV-C GO:0071494 9.57 TP53 MDM2
25 negative regulation of cytokinesis GO:0032466 9.56 E2F8 E2F7
26 chorionic trophoblast cell differentiation GO:0060718 9.55 E2F8 E2F7
27 regulation of lipid kinase activity GO:0043550 9.54 RBL1 RB1
28 cellular response to actinomycin D GO:0072717 9.52 TP53 MDM2
29 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.51 RB1 E2F7
30 positive regulation of DNA endoreduplication GO:0032877 9.48 E2F8 E2F7
31 regulation of cell cycle GO:0051726 9.36 TP53 RBL1 RB1 E2F8 E2F7 E2F6

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 WRN TP53 RECQL4 RBL1 RB1 PRIM1
2 DNA binding GO:0003677 10.14 WRN TP53 RB1 E2F8 E2F7 E2F6
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.03 TP53 E2F8 E2F7 E2F6 E2F5 E2F4
4 sequence-specific DNA binding GO:0043565 10.02 E2F8 E2F7 E2F6 E2F5 E2F4 E2F3
5 DNA-binding transcription factor activity GO:0003700 9.91 TP53 RB1 E2F8 E2F7 E2F6 E2F5
6 protein dimerization activity GO:0046983 9.85 E2F6 E2F5 E2F4 E2F3 E2F2
7 promoter-specific chromatin binding GO:1990841 9.71 TP53 RBL1 E2F4
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.7 TP53 RBL1 RB1 E2F7 E2F6 E2F3
9 disordered domain specific binding GO:0097718 9.67 TP53 RB1 MDM2 CDKN2A
10 SUMO transferase activity GO:0019789 9.58 MDM2 CDKN2A
11 3'-5' DNA helicase activity GO:0043138 9.57 WRN RECQL4
12 RNA polymerase II regulatory region DNA binding GO:0001012 9.56 RBL1 RB1
13 bubble DNA binding GO:0000405 9.55 WRN RECQL4
14 four-way junction helicase activity GO:0009378 9.52 WRN RECQL4
15 telomeric D-loop binding GO:0061821 9.51 WRN RECQL4
16 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.5 E2F5 E2F4 E2F3
17 transcription factor binding GO:0008134 9.36 TP53 RBL1 RB1 E2F8 E2F7 E2F6
18 proximal promoter sequence-specific DNA binding GO:0000987 9.35 RB1 E2F8 E2F7 E2F3 E2F2

Sources for Familial Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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