MCID: FML008
MIFTS: 53

Familial Retinoblastoma

Categories: Cancer diseases, Eye diseases, Genetic 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 leukocoria 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 Miconazole and Itraconazole have been mentioned in the context of this disorder. Affiliated tissues include breast, eye and lung, and related phenotypes are shRNA abundance <= 50% and cellular

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 790)
# Related Disease Score Top Affiliating Genes
1 leukocoria 31.2 RB1 LPAR6
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 30.5 TP53 MDM2
6 adenocarcinoma 30.4 TP53 RB1 MDM2 CDKN2A CDK4
7 vulvar intraepithelial neoplasia 30.4 TP53 CDKN2A
8 anogenital venereal wart 30.4 TP53 RB1 CDKN2A
9 merkel cell carcinoma 30.4 TP53 RB1 CDKN2A
10 small cell carcinoma 30.3 TP53 MYCN CDKN2A
11 pleomorphic lipoma 30.3 MDM2 CDK4
12 glioma 30.3 TP53 NF1 MDM2 CDKN2A CDK4
13 histiocytoma 30.2 TP53 MDM2 CDKN2A CDK4
14 lung benign neoplasm 30.2 TP53 RB1 CDKN2A
15 lipomatosis, multiple 30.2 NF1 MDM2 CDK4
16 well-differentiated liposarcoma 30.2 MDM2 CDKN2A CDK4
17 leiomyosarcoma 30.1 TP53 RB1 NF1 MDM2 CDKN2A CDK4
18 melanoma, uveal 30.1 TP53 NF1 MDM2 CDKN2A CDK4
19 spindle cell lipoma 30.1 RB1 MDM2
20 skin melanoma 30.1 TP53 MDM2 CDKN2A
21 gallbladder adenoma 30.1 RB1 CDKN2A
22 actinic cheilitis 30.0 TP53 MDM2
23 glioma susceptibility 1 30.0 TP53 MDM2 CDKN2A CDK4
24 ring chromosome 30.0 TP53 MDM2 CDK4
25 b-cell lymphoma 30.0 TP53 RB1 MDM2 CDKN2A CDK4
26 embryonal sarcoma 29.9 TP53 MDM2 CDK4
27 conjunctival squamous cell carcinoma 29.9 TP53 RB1
28 pleomorphic adenoma 29.9 TP53 MDM2 CDKN2A
29 liposarcoma 29.8 TP53 RB1 MDM2 CDKN2A CDK4
30 rhabdomyosarcoma 29.7 TP53 RB1 MYCN MDM2 CDKN2A CDK4
31 neuroblastoma 29.7 TP53 RB1 NF1 MYCN MDM2 CDKN2A
32 ovary adenocarcinoma 29.7 TP53 MDM2 CDKN2A
33 malignant glioma 29.6 TP53 MDM2 CDKN2A CDK4
34 bladder urothelial carcinoma 29.6 TP53 RB1 MDM2 CDKN2A
35 diffuse large b-cell lymphoma 29.6 TP53 MDM2 CDKN2A CDK4
36 myxoid liposarcoma 29.5 TP53 MDM2 CDK4
37 lung cancer susceptibility 3 29.5 TP53 RB1 NF1 MDM2 CDKN2A CDK4
38 embryonal rhabdomyosarcoma 29.4 TP53 MYCN MDM2 CDK4
39 leukemia, acute myeloid 29.4 TP53 NF1 MYCN MDM2 CDKN2A CDK4
40 oligodendroglioma 29.4 TP53 NF1 MDM2 CDKN2A CDK4
41 ewing sarcoma 29.3 TP53 NF1 MYCN MDM2 CDKN2A CDK4
42 meningioma, familial 29.3 WRN TP53 NF1 MDM2 CDKN2A
43 grade iii astrocytoma 29.2 TP53 RB1 MDM2 CDKN2A CDK4
44 mantle cell lymphoma 29.2 TP53 RB1 MDM2 CDKN2A CDK4
45 rhabdomyosarcoma 2 29.2 TP53 MYCN MDM2 CDK4
46 unilateral retinoblastoma 29.2 RBL1 RB1 MYCN LPAR6 E2F3
47 suppression of tumorigenicity 12 29.1 TP53 MYCN MDM2 CDKN2A CDK4
48 medulloblastoma 29.1 WRN TP53 RB1 NF1 MYCN MDM2
49 adenoid cystic carcinoma 29.1 TP53 MDM2 CDKN2A CDK4
50 lynch syndrome 29.0 TP53 MDM2 E2F2 CDKN2A

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



Diseases related to Familial Retinoblastoma

Symptoms & Phenotypes for Familial Retinoblastoma

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 CDK4 E2F2 E2F4 E2F5 E2F7 E2F8

MGI Mouse Phenotypes related to Familial Retinoblastoma:

45 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.52 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
2 cardiovascular system MP:0005385 10.47 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F7
3 growth/size/body region MP:0005378 10.46 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F7
4 behavior/neurological MP:0005386 10.41 CDK4 CDKN2A E2F3 E2F4 E2F5 MDM2
5 embryo MP:0005380 10.41 CDK4 CDKN2A E2F3 E2F4 E2F7 E2F8
6 mortality/aging MP:0010768 10.41 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
7 endocrine/exocrine gland MP:0005379 10.4 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
8 craniofacial MP:0005382 10.39 CDK4 E2F3 E2F4 E2F5 MDM2 MYCN
9 hematopoietic system MP:0005397 10.39 CDK4 CDKN2A E2F2 E2F4 LPAR6 MDM2
10 digestive/alimentary MP:0005381 10.38 CDK4 CDKN2A E2F3 E2F4 MDM2 MYCN
11 integument MP:0010771 10.36 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
12 homeostasis/metabolism MP:0005376 10.35 CDK4 CDKN2A E2F3 E2F4 E2F5 MDM2
13 immune system MP:0005387 10.34 CDK4 CDKN2A E2F2 E2F3 E2F4 MDM2
14 nervous system MP:0003631 10.23 CDK4 CDKN2A E2F2 E2F3 E2F5 MDM2
15 liver/biliary system MP:0005370 10.18 CDK4 CDKN2A E2F2 MDM2 MYCN NF1
16 neoplasm MP:0002006 10.18 CDK4 CDKN2A E2F4 MDM2 NF1 RB1
17 normal MP:0002873 10.18 CDK4 E2F2 E2F3 E2F4 E2F7 E2F8
18 limbs/digits/tail MP:0005371 10.14 MDM2 MYCN NF1 RB1 RBL1 RECQL4
19 muscle MP:0005369 10.1 CDK4 CDKN2A MDM2 MYCN NF1 RB1
20 reproductive system MP:0005389 10.03 CDK4 CDKN2A E2F3 E2F4 E2F5 MDM2
21 no phenotypic analysis MP:0003012 9.98 CDKN2A E2F3 MDM2 MYCN RB1 RBL1
22 renal/urinary system MP:0005367 9.92 CDK4 E2F2 MDM2 MYCN NF1 RB1
23 pigmentation MP:0001186 9.91 CDK4 CDKN2A MDM2 NF1 RB1 RECQL4
24 respiratory system MP:0005388 9.9 CDKN2A E2F2 E2F3 E2F4 E2F7 E2F8
25 skeleton MP:0005390 9.77 CDK4 CDKN2A E2F3 E2F4 E2F5 MDM2
26 vision/eye MP:0005391 9.4 CDK4 CDKN2A E2F2 E2F3 MYCN NF1

Drugs & Therapeutics for Familial Retinoblastoma

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

(show top 50) (show all 125)
# 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 Anti-Infective Agents Phase 4
5 Antifungal Agents Phase 4
6 Hormone Antagonists Phase 4
7 Hormones Phase 4
8 Steroid Synthesis Inhibitors Phase 4
9 Cytochrome P-450 CYP3A Inhibitors Phase 4
10 Cytochrome P-450 Enzyme Inhibitors Phase 4
11
Hydroxyitraconazole Phase 4
12
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
13
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
14
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
15
Palbociclib Approved, Investigational Phase 3 571190-30-2 11431660 5005498 5330286
16
Lactitol Investigational Phase 3 585-86-4, 585-88-6 493591
17
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
18 Estrogens Phase 3
19 Aromatase Inhibitors Phase 3
20 Estrogen Receptor Antagonists Phase 3
21 Estrogen Antagonists Phase 3
22 Mitogens Phase 3
23 topoisomerase I inhibitors Phase 3
24 Anti-Bacterial Agents Phase 3
25 Antibiotics, Antitubercular Phase 3
26
Liposomal doxorubicin Phase 3 31703
27 Protein Kinase Inhibitors Phase 3
28 Podophyllotoxin Phase 3 518-28-5
29
Ranibizumab Approved Phase 2 347396-82-1 459903
30
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
31
Gemcitabine Approved Phase 2 95058-81-4 60750
32
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
33
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
34
Goserelin Approved Phase 2 65807-02-5, 1233494-97-7 47725 5311128
35
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
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
Acetaminophen Approved Phase 2 103-90-2 1983
44
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
45
Promethazine Approved, Investigational Phase 2 60-87-7 4927
46
Melphalan Approved Phase 2 148-82-3 4053 460612
47
Metformin Approved Phase 2 657-24-9 14219 4091
48 3-Iodobenzylguanidine Phase 2
49 Fertility Agents Phase 2
50 Nonsteroidal Anti-Androgens Phase 2

Interventional clinical trials:

(show top 50) (show all 137)
# 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 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
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 IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
28 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
29 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
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 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)
32 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
33 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
34 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
35 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
36 A Phase 2 Study of Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
37 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
38 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
39 Abemaciclib for Treatment of Advanced Bone and Soft Tissue Sarcoma Identified as Having CDK Pathway Alteration Recruiting NCT04040205 Phase 2 Abemaciclib
40 CDK4/6 Inhibition in Locally Advanced/Metastatic Chordoma (NCT-PMO-1601) Recruiting NCT03110744 Phase 2 Palbociclib
41 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
42 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
43 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
44 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,
45 Phase II Study Temozolomide for Retinoblastoma Metastatic to the Central Nervous System for Patients From Guatemala Terminated NCT01857752 Phase 2 Temozolomide
46 Intra-arterial Chemotherapy for the Treatment of Intraocular Retinoblastoma Terminated NCT01293539 Phase 2 Melphalan hydrochloride
47 A Phase II Trial of Proton Beam Radiation Therapy for Intra- and Periocular Retinoblastoma Terminated NCT00432445 Phase 2
48 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
49 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
50 A Phase II, Open Label Assessment of Neoadjuvant Intervention With Metformin Against Tumour Expression of Signaling Terminated NCT00881725 Phase 2 Metformin

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, Bone, Thyroid, Smooth Muscle

Publications for Familial Retinoblastoma

Articles related to Familial Retinoblastoma:

(show top 50) (show all 15702)
# Title Authors PMID Year
1
Polymorphism in MTHFR (at SNPs 677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children. 61
31976150 2020
2
Spatial-Temporal Cluster Analysis of Childhood Cancer in California. 61
31596791 2020
3
MicroRNA-598 acts as an inhibitor in retinoblastoma through targeting E2F1 and regulating AKT pathway. 61
31674056 2020
4
A Review of Literature on Health-Related Quality of Life of Retinoblastoma Survivors. 61
31762375 2020
5
Cytomegalovirus disease in a retinoblastoma cohort: The role of preemptive screening. 61
31793213 2020
6
MicroRNA‑936 inhibits the malignant phenotype of retinoblastoma by directly targeting HDAC9 and deactivating the PI3K/AKT pathway. 61
31922233 2020
7
UHRF1 downmodulation enhances antitumor effects of histone deacetylase inhibitors in retinoblastoma by augmenting oxidative stress-mediated apoptosis. 61
31782885 2020
8
LncRNA MIR7-3HG executes a positive role in retinoblastoma progression via modulating miR-27a-3p/PEG10 axis. 61
32035086 2020
9
Tumour size criteria for Group D and E eyes in the International Classification System for Retinoblastoma: effects on rates of globe salvage and high-risk histopathologic features. 61
31421017 2020
10
Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants. 61
31736278 2020
11
A History of Cancer Research: Tumor Suppressor Genes. 61
32015099 2020
12
Prediction of Core Signaling Pathway by Using Diffusion- and Perfusion-based MRI Radiomics and Next-generation Sequencing in Isocitrate Dehydrogenase Wild-type Glioblastoma. 61
31845844 2020
13
Multifunctional Nanoparticles for Multimodal Imaging-Guided Low-Intensity Focused Ultrasound/Immunosynergistic Retinoblastoma Therapy. 61
31940169 2020
14
ErbB-3 BINDING PROTEIN 1 Regulates Translation and Counteracts RETINOBLASTOMA RELATED to Maintain the Root Meristem. 61
31818906 2020
15
LINC00858 promotes retinoblastoma cell proliferation, migration and invasion by inhibiting miR-3182. 61
32010262 2020
16
Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment. 61
32009247 2020
17
Episcleral brachytherapy for retinoblastoma. 61
31122912 2020
18
Midkine-a Is Required for Cell Cycle Progression of Müller Glia during Neuronal Regeneration in the Vertebrate Retina. 61
31882403 2020
19
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. 61
31768671 2020
20
Long non-coding RNA LEF1-AS1 is involved in the progression of retinoblastoma through regulating the Wnt/β-catenin pathway. 61
31990064 2020
21
Eag1 Gene and Protein Expression in Human Retinoblastoma Tumors and its Regulation by pRb in HeLa Cells. 61
31973216 2020
22
Hypothesis: Retinoblastoma protein inactivation mediates effects of histone deacetylase inhibitor-induced Wnt hyperactivation in colorectal cancer cells. 61
31942190 2020
23
Craniofacial second primary tumors in patients with germline retinoblastoma previously treated with external beam radiotherapy: A retrospective institutional analysis. 61
31904159 2020
24
The zinc-finger protein ZCCHC2 suppresses retinoblastoma tumorigenesis by inhibiting HectH9-mediated K63-linked polyubiquitination and activation of c-Myc. 61
31677785 2020
25
SMAD6, positively regulated by the DNM3OS-miR-134-5p axis, confers promoting effects to cell proliferation, migration and EMT process in retinoblastoma. 61
31992960 2020
26
Unilateral retinocytoma associated with a variant in the RB1 gene. 61
31997559 2020
27
Loss of Rb1 Enhances Glycolytic Metabolism in Kras-Driven Lung Tumors In Vivo. 61
31963621 2020
28
Placenta-Specific 8 Is Overexpressed and Regulates Cell Proliferation in Low-Grade Human Pancreatic Neuroendocrine Tumors. 61
31018208 2020
29
Low-intensity light-induced drug release from a dual delivery system comprising of a drug loaded liposome and a photosensitive conjugate. 61
31886709 2020
30
SSi6 promotes cell death by apoptosis through cell cycle arrest and inhibits migration and invasion of MDA-MB-231 human breast cancer cells. 61
31490285 2020
31
MCPIP1 overexpression in human neuroblastoma cell lines causes cell-cycle arrest by G1/S checkpoint block. 61
31919874 2020
32
Preclinical activity of ribociclib in squamous cell carcinoma of the head and neck. 61
31924739 2020
33
The double dealing of cyclin D1. 61
31885322 2020
34
Identification of Significant Prognostic Tissue Markers Associated with Survival in Upper Urinary Tract Urothelial Carcinoma Patients Treated with Radical Nephroureterectomy: A Retrospective Immunohistochemical Analysis Using Tissue Microarray. 61
31291718 2020
35
Pancreatic High-Grade Neuroendocrine Neoplasms in the Korean Population: A Multicenter Study. 61
31319641 2020
36
An RB-Condensin II Complex Mediates Long-Range Chromosome Interactions and Influences Expression at Divergently Paired Genes. 61
31685548 2020
37
Clear-cell variant of superficial cutaneous leiomyosarcoma associated with RB1 mutation: Clinical, dermoscopic, and histopathological characteristics. 61
31999365 2020
38
Multimodal Imaging and Histopathological Evaluation of Berger's Space. 61
32002397 2020
39
Circular RNA hsa_circ_0006168 contributes to cell proliferation, migration and invasion in esophageal cancer by regulating miR-384/RBBP7 axis via activation of S6K/S6 pathway. 61
31957828 2020
40
Number, frequency and time interval of examinations under anesthesia in bilateral retinoblastoma. 61
31900643 2020
41
E2FB Interacts with RETINOBLASTOMA RELATED and Regulates Cell Proliferation during Leaf Development. 61
31694902 2020
42
Retinoblastoma Presentation and Survival: A four-year analysis from a tertiary care hospital. 61
31933609 2020
43
Retinoblastoma binding protein 7 is involved in Kiss1 mRNA upregulation in rodents. 61
31956172 2020
44
Survival and ocular preservation in a long-term cohort of Japanese patients with retinoblastoma. 61
31992242 2020
45
Clinical presentation and outcome of retinoblastoma based on age at presentation: a review of 1450 children. 61
31444587 2020
46
Intra-Arterial Chemotherapy for Retinoblastoma: Four-Year Results from Tertiary Center in India. 61
32002408 2020
47
lncRNA UCA1 Increases Proliferation and Multidrug Resistance of Retinoblastoma Cells Through Downregulating miR-513a-5p. 61
31702387 2020
48
Epidemiology and clinical features of retinoblastoma: A tertiary care center's experience in India. 61
31956625 2020
49
Histone deacetylase inhibitors differentially regulate c-Myc expression in retinoblastoma cells. 61
31897159 2020
50
SKP2, positively regulated by circ_ODC1/miR-422a axis, promotes the proliferation of retinoblastoma. 61
31297892 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 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 TP53 RBL1 RB1 NF1 MDM2 E2F5
2
Show member pathways
13.71 TP53 RB1 MDM2 E2F5 E2F4 E2F3
3
Show member pathways
13.46 WRN TP53 RBL1 RB1 MDM2 E2F5
4
Show member pathways
13.17 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
5
Show member pathways
13.01 TP53 RBL1 RB1 MDM2 LPAR6 CDK4
6
Show member pathways
13.01 WRN TP53 RBL1 MDM2 E2F7 E2F4
7
Show member pathways
12.98 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
8
Show member pathways
12.92 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
9 12.9 TP53 RB1 MDM2 LPAR6 E2F3 E2F2
10
Show member pathways
12.89 RB1 E2F3 E2F2 CDKN2A CDK4
11
Show member pathways
12.85 TP53 RB1 MDM2 E2F3 E2F2 CDK4
12
Show member pathways
12.8 TP53 RB1 E2F3 E2F2 CDKN2A CDK4
13
Show member pathways
12.77 TP53 RBL1 RB1 MDM2 E2F5 E2F4
14
Show member pathways
12.75 TP53 RB1 NF1 MDM2 E2F3 E2F2
15 12.58 WRN TP53 RECQL4 RB1 MDM2 CDKN2A
16 12.57 TP53 MDM2 E2F3 E2F2 CDKN2A
17
Show member pathways
12.51 RB1 E2F5 E2F4 E2F3 E2F2
18 12.47 TP53 RBL1 RB1 E2F4 CDK4
19
Show member pathways
12.47 TP53 RBL1 RB1 MDM2 E2F5 E2F4
20
Show member pathways
12.42 TP53 RB1 MDM2 CDKN2A CDK4
21 12.42 TP53 RB1 E2F3 E2F2 CDKN2A CDK4
22 12.37 TP53 RBL1 RB1 MDM2 CDKN2A CDK4
23
Show member pathways
12.37 TP53 RBL1 RB1 E2F5 E2F4 E2F3
24
Show member pathways
12.35 TP53 RB1 MDM2 E2F5 E2F4 E2F3
25
Show member pathways
12.28 TP53 RB1 MDM2 E2F4 E2F2 CDK4
26
Show member pathways
12.25 RB1 E2F4 CDKN2A CDK4
27 12.21 TP53 RB1 NF1 MDM2 CDK4
28 12.21 TP53 RBL1 RB1 MDM2 E2F5 E2F4
29 12.11 TP53 RBL1 E2F5 E2F4
30 12.06 TP53 RB1 E2F5 CDK4
31 11.99 TP53 RB1 MDM2 CDKN2A
32
Show member pathways
11.97 TP53 RBL1 E2F7 E2F4
33 11.96 TP53 RB1 E2F3 E2F2 CDK4
34 11.96 TP53 RB1 MDM2 E2F3 E2F2 CDK4
35
Show member pathways
11.92 TP53 RB1 E2F5 E2F4 E2F3 E2F2
36 11.86 RBL1 E2F5 E2F4
37 11.84 RBL1 RB1 E2F7 E2F5 E2F4 E2F3
38 11.81 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
39 11.8 TP53 E2F3 CDK4
40
Show member pathways
11.8 RBL1 RB1 E2F5 E2F4 E2F3 E2F2
41
Show member pathways
11.75 TP53 MDM2 CDKN2A
42 11.75 TP53 MDM2 CDKN2A
43 11.73 TP53 RB1 MDM2 CDKN2A
44 11.7 TP53 RB1 NF1 MDM2 E2F5 E2F4
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 11.53 TP53 RBL1 RB1 MDM2 E2F5 E2F4

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 10.27 WRN TP53 RECQL4 RBL1 RB1 NF1
2 nucleoplasm GO:0005654 10.1 WRN TP53 RBL1 RB1 MYCN MDM2
3 nuclear chromatin GO:0000790 9.92 TP53 MYCN E2F8 E2F7 E2F5 E2F4
4 nucleolus GO:0005730 9.81 WRN TP53 NF1 MYCN MDM2 E2F8
5 chromatin GO:0000785 9.71 RBL1 RB1 MYCN CDK4
6 RNA polymerase II transcription factor complex GO:0090575 9.43 E2F8 E2F7 E2F5 E2F4 E2F3 E2F2
7 transcription factor complex GO:0005667 9.32 TP53 RBL1 RB1 E2F8 E2F7 E2F5

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.09 TP53 RB1 MYCN E2F8 E2F7 E2F5
2 negative regulation of cell proliferation GO:0008285 9.99 TP53 RB1 NF1 E2F7 CDKN2A
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.96 TP53 RBL1 RB1 MDM2 E2F8 E2F7
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.9 TP53 RBL1 RB1 MYCN E2F8 E2F7
5 regulation of cell proliferation GO:0042127 9.88 TP53 NF1 E2F4 CDK4
6 negative regulation of gene expression GO:0010629 9.88 TP53 RBL1 RB1 MYCN MDM2
7 G1/S transition of mitotic cell cycle GO:0000082 9.82 RB1 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 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.72 TP53 MDM2 E2F8 E2F7 E2F4
11 Ras protein signal transduction GO:0007265 9.71 TP53 RB1 NF1 CDKN2A
12 cellular response to gamma radiation GO:0071480 9.67 WRN TP53 MDM2
13 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.66 TP53 E2F7
14 response to hyperoxia GO:0055093 9.65 TP53 CDK4
15 DNA unwinding involved in DNA replication GO:0006268 9.65 WRN RECQL4
16 cell cycle GO:0007049 9.65 TP53 RBL1 RB1 E2F8 E2F7 E2F4
17 cardiac septum morphogenesis GO:0060411 9.64 TP53 MDM2
18 replicative senescence GO:0090399 9.64 TP53 CDKN2A
19 hepatocyte differentiation GO:0070365 9.63 E2F8 E2F7
20 trophoblast giant cell differentiation GO:0060707 9.63 E2F8 E2F7
21 amyloid fibril formation GO:1990000 9.62 MDM2 CDKN2A
22 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.61 TP53 MYCN
23 telomeric D-loop disassembly GO:0061820 9.61 WRN RECQL4
24 DNA strand renaturation GO:0000733 9.6 TP53 RECQL4
25 cellular response to UV-C GO:0071494 9.58 TP53 MDM2
26 negative regulation of cytokinesis GO:0032466 9.57 E2F8 E2F7
27 negative regulation of neuroblast proliferation GO:0007406 9.56 TP53 NF1
28 chorionic trophoblast cell differentiation GO:0060718 9.55 E2F8 E2F7
29 regulation of lipid kinase activity GO:0043550 9.54 RBL1 RB1
30 cellular response to actinomycin D GO:0072717 9.52 TP53 MDM2
31 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.51 RB1 E2F7
32 positive regulation of DNA endoreduplication GO:0032877 9.46 E2F8 E2F7
33 regulation of cell cycle GO:0051726 9.32 TP53 RBL1 RB1 E2F8 E2F7 E2F5

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 10.39 WRN TP53 RECQL4 RBL1 RB1 PDE6G
2 DNA binding GO:0003677 10.06 WRN TP53 RB1 MYCN E2F8 E2F7
3 sequence-specific DNA binding GO:0043565 9.99 E2F8 E2F7 E2F5 E2F4 E2F3 E2F2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.97 TP53 MYCN E2F8 E2F7 E2F5 E2F4
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.96 TP53 MYCN E2F8 E2F7 E2F4
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.93 TP53 MYCN E2F4 E2F3 E2F2
7 DNA-binding transcription factor activity GO:0003700 9.81 TP53 RB1 MYCN E2F8 E2F7 E2F5
8 protein dimerization activity GO:0046983 9.8 MYCN E2F5 E2F4 E2F3 E2F2
9 RNA polymerase II activating transcription factor binding GO:0001102 9.7 TP53 RBL1 RB1
10 promoter-specific chromatin binding GO:1990841 9.67 TP53 RBL1 E2F4
11 3'-5' DNA helicase activity GO:0043138 9.58 WRN RECQL4
12 RNA polymerase II regulatory region DNA binding GO:0001012 9.57 RBL1 RB1
13 disordered domain specific binding GO:0097718 9.56 TP53 RB1 MDM2 CDKN2A
14 bubble DNA binding GO:0000405 9.55 WRN RECQL4
15 four-way junction helicase activity GO:0009378 9.48 WRN RECQL4
16 telomeric D-loop binding GO:0061821 9.46 WRN RECQL4
17 proximal promoter sequence-specific DNA binding GO:0000987 9.35 RB1 E2F8 E2F7 E2F3 E2F2
18 transcription factor binding GO:0008134 9.32 TP53 RBL1 RB1 E2F8 E2F7 E2F5

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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