MCID: FML008
MIFTS: 49

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 70
Hereditary Retinoblastoma 12 29 54
Retinoblastoma 44 70

Classifications:



External Ids:

Disease Ontology 12 DOID:4648
MeSH 44 D012175
NCIt 50 C8495
UMLS 70 C0035335 C0751483

Summaries for Familial Retinoblastoma

MalaCards based summary : Familial Retinoblastoma, also known as hereditary retinoblastoma, is related to small cell cancer of the lung and squamous cell papilloma. 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 Nicotine and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include pineal, myeloid and retina, and related phenotypes are cellular and cardiovascular system

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 829)
# Related Disease Score Top Affiliating Genes
1 small cell cancer of the lung 31.7 TP53 RB1 CDKN2A
2 squamous cell papilloma 31.0 TP53 CDKN2A
3 papilloma 30.8 TP53 RBL1 RB1 CDKN2A
4 suppressor of tumorigenicity 3 30.8 TP53 RB1 CDKN2A
5 soft tissue sarcoma 30.8 TP53 MDM2
6 melanoma 30.7 TP53 RB1 MDM2 E2F3 E2F2 CDKN2A
7 cervix uteri carcinoma in situ 30.4 TP53 RB1 CDKN2A
8 adenocarcinoma 30.4 TP53 RB1 MDM2 CDKN2A CDK4
9 merkel cell carcinoma 30.2 TP53 RB1 CDKN2A
10 vulvar intraepithelial neoplasia 30.2 TP53 CDKN2A
11 anogenital venereal wart 30.2 TP53 RB1 CDKN2A
12 pleomorphic lipoma 30.2 TSPAN31 MDM2 CDK4
13 human papillomavirus infectious disease 30.1 TP53 CDKN2A
14 malignant fibrous histiocytoma 30.1 TP53 RECQL4 MDM2 CDK4
15 lymphoma 30.1 TP53 RB1 MDM2 CDKN2A CDK4
16 oral cancer 30.0 TP53 MDM2 CDKN2A
17 burkitt lymphoma 30.0 TP53 RB1 E2F4 CDKN2A CDK4
18 lung benign neoplasm 30.0 TP53 RB1 CDKN2A
19 unilateral retinoblastoma 30.0 RBL1 RB1 E2F3
20 glioma 30.0 TP53 NF1 MDM2 CDKN2A CDK4
21 bilateral retinoblastoma 30.0 RBL1 RB1 ESD E2F8
22 gallbladder adenoma 29.9 RB1 CDKN2A
23 spindle cell lipoma 29.9 RB1 MDM2 CDK4
24 leiomyosarcoma 29.9 TP53 RB1 NF1 MDM2 CDKN2A CDK4
25 conjunctival squamous cell carcinoma 29.9 TP53 RB1
26 melanoma, uveal 29.8 TP53 NF1 MDM2 CDKN2A CDK4
27 ring chromosome 29.8 TP53 MDM2 CDK4
28 embryonal rhabdomyosarcoma 29.8 TP53 MDM2 CDK4
29 bone sarcoma 29.8 TP53 MDM2 CDK4
30 actinic cheilitis 29.7 TP53 MDM2
31 well-differentiated liposarcoma 29.7 TSPAN31 TP53 MDM2 CDKN2A CDK4
32 pleomorphic adenoma 29.7 TP53 MDM2 CDKN2A
33 rhabdomyosarcoma 29.7 TP53 RB1 NF1 MDM2 CDKN2A CDK4
34 myxoid liposarcoma 29.7 TP53 MDM2 CDK4
35 lipomatosis, multiple 29.7 TSPAN31 NF1 MDM2 CDK4
36 high grade glioma 29.6 TP53 NF1 CDKN2A CDK4
37 cerebellum cancer 29.6 TP53 NF1
38 malignant astrocytoma 29.6 TP53 NF1 MDM2 CDKN2A CDK4
39 diffuse large b-cell lymphoma 29.6 TP53 MDM2 CDKN2A CDK4
40 glioblastoma 29.6 TP53 RB1 NF1 MDM2 CDKN2A CDK4
41 embryonal sarcoma 29.5 TP53 MDM2 CDK4
42 ewing sarcoma 29.5 TP53 NF1 MDM2 CDKN2A CDK4
43 pancreatic adenocarcinoma 29.5 TP53 MDM2 CDKN2A CDK4
44 pleomorphic liposarcoma 29.5 MDM2 CDKN2A CDK4
45 rhabdomyosarcoma 2 29.5 RB1 MDM2 CDK4
46 mucosal melanoma 29.4 TP53 NF1 CDKN2A
47 medulloblastoma 29.4 WRN TP53 RB1 NF1 MDM2 CDKN2A
48 myeloma, multiple 29.3 TP53 RECQL4 NF1 MDM2 CDKN2A CDK4
49 endometrial cancer 29.3 TP53 RB1 MDM2 E2F3 CDKN2A CDK4
50 skin melanoma 29.3 TP53 NF1 MDM2 CDKN2A CDK4

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:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 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 10.42 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F6
4 endocrine/exocrine gland MP:0005379 10.4 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
5 mortality/aging MP:0010768 10.39 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
6 behavior/neurological MP:0005386 10.38 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F6
7 embryo MP:0005380 10.38 CDK4 CDKN2A E2F3 E2F4 E2F7 E2F8
8 immune system MP:0005387 10.34 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F6
9 craniofacial MP:0005382 10.32 CDK4 E2F3 E2F4 E2F5 MDM2 NF1
10 digestive/alimentary MP:0005381 10.32 CDK4 CDKN2A E2F3 E2F4 MDM2 NF1
11 integument MP:0010771 10.32 CDK4 CDKN2A E2F2 E2F3 E2F4 E2F5
12 hematopoietic system MP:0005397 10.31 CDK4 CDKN2A E2F2 E2F4 E2F6 MDM2
13 normal MP:0002873 10.15 CDK4 E2F2 E2F3 E2F4 E2F6 E2F7
14 nervous system MP:0003631 10.14 CDK4 CDKN2A E2F2 E2F3 E2F5 E2F6
15 neoplasm MP:0002006 10.13 CDK4 CDKN2A E2F4 MDM2 NF1 RB1
16 limbs/digits/tail MP:0005371 10.1 MDM2 NF1 PRIM1 RB1 RBL1 RECQL4
17 liver/biliary system MP:0005370 10.08 CDK4 CDKN2A E2F2 MDM2 NF1 RB1
18 reproductive system MP:0005389 10.03 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F6
19 pigmentation MP:0001186 9.87 CDK4 CDKN2A MDM2 NF1 RB1 RECQL4
20 respiratory system MP:0005388 9.85 CDKN2A E2F2 E2F3 E2F4 E2F7 E2F8
21 skeleton MP:0005390 9.77 CDK4 CDKN2A E2F3 E2F4 E2F5 E2F6
22 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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 942 89594
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
5
Molgramostim Investigational Phase 4 99283-10-0
6 Antifungal Agents Phase 4
7 Cytochrome P-450 CYP3A Inhibitors Phase 4
8
Hydroxyitraconazole Phase 4 108222
9 Cytochrome P-450 Enzyme Inhibitors Phase 4
10 Hormone Antagonists Phase 4
11 Hormones Phase 4
12
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
15 Anti-Infective Agents, Local Phase 3
16 Antibiotics, Antitubercular Phase 3
17
Liposomal doxorubicin Phase 3 31703
18 Anti-Bacterial Agents Phase 3
19 Keratolytic Agents Phase 3
20 Podophyllotoxin Phase 3 518-28-5
21 Immunologic Factors Phase 3
22 Adjuvants, Immunologic Phase 3
23
Ranibizumab Approved Phase 2 347396-82-1 459903
24
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
25
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 5330286 11431660
26
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
27
Iodine Approved, Investigational Phase 2 7553-56-2 807
28
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
30
Acetaminophen Approved Phase 2 103-90-2 1983
31
Promethazine Approved, Investigational Phase 2 60-87-7 4927
32
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
33
Melphalan Approved Phase 2 148-82-3 4053 460612
34
Cadexomer iodine Experimental Phase 2 94820-09-4
35 topoisomerase I inhibitors Phase 2
36 Protein Kinase Inhibitors Phase 2
37 3-Iodobenzylguanidine Phase 2
38 Immunoglobulins Phase 2
39 Antibodies Phase 2
40 Antibodies, Monoclonal Phase 2
41 Cyclosporins Phase 2
42 Calcineurin Inhibitors Phase 2
43
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
44
Polymyxin B Approved, Vet_approved Phase 1 1404-26-8
45
Simvastatin Approved Phase 1 79902-63-9 54454
46
Sirolimus Approved, Investigational Phase 1 53123-88-9 6436030 5284616
47
Thalidomide Approved, Investigational, Withdrawn Phase 1 50-35-1 5426
48
Mesna Approved, Investigational Phase 1 3375-50-6 598
49
Busulfan Approved, Investigational Phase 1 55-98-1 2478
50
Amifostine Approved, Investigational Phase 1 20537-88-6 2141

Interventional clinical trials:

(show top 50) (show all 108)
# Name Status NCT ID Phase Drugs
1 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 Unknown status NCT02933333 Phase 4
2 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
3 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
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 Completed NCT00335738 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
6 Trial of Systemic Neoadjuvant Chemotherapy for Group B Intraocular Retinoblastoma Completed NCT00079417 Phase 3 carboplatin;vincristine sulfate
7 Choice of Topotecan or Melphalan in Retinoblastoma Patients Recruiting NCT04799002 Phase 3 Topotecan;Melphalan
8 Ocular Conservative Treatment for Retinoblastoma: Efficacy of the New Management Strategies and Visual Outcome - RETINO 2018 Recruiting NCT04681417 Phase 2, Phase 3 Melphalan or Melphalan + Topotecan;etoposide, carboplatin and vincristine;Carboplatin administered on Day 1;Intravitreal Melphalan chemotherapy injections (local treatment)
9 GALOP II Protocol for the Treatment of Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
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 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
14 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Terminated NCT01987596 Phase 3
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 Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma Completed NCT00901238 Phase 1, Phase 2
18 Chemotherapy Plus Local Surgical Treatment in Children With Intraocular Germ-Line Retinoblastoma Completed NCT00179920 Phase 2 Carboplatin;VP-16
19 Treatment for Extrachoroidal or Metastatic Retinoblastoma Completed NCT00004006 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
20 A TRIAL OF ADJUVANT CHEMOTHERAPY IN PATIENTS WITH INTRAOCULAR RETINOBLASTOMA Completed NCT00002675 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
21 Evaluation of Chemotherapy as Initial Treatment for Retinoblastoma Completed NCT00002794 Phase 2 carboplatin;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 High-Dose Thiotepa With Autologous Stem Cell Rescue in Patients With Malignancies Refractory to Conventional Chemotherapy Completed NCT00003173 Phase 2 thiotepa
25 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
26 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
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 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
29 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
30 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,
31 Conservative Treatments of Retinoblastoma Recruiting NCT02866136 Phase 2 VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
32 A Phase 2 Study of Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer Recruiting NCT03130439 Phase 2 Abemaciclib
33 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
34 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
35 A Phase II Prospective International Multicenter Clinical Trial for Eyes With Relapsed Retinoblastoma, With Randomization Depending on the Site of Relapse or on Previous Treatment Not yet recruiting NCT04455139 Phase 2 Topotecan;Melphalan
36 Phase II Study Temozolomide for Retinoblastoma Metastatic to the Central Nervous System for Patients From Guatemala Terminated NCT01857752 Phase 2 Temozolomide
37 A Phase II Trial of Proton Beam Radiation Therapy for Intra- and Periocular Retinoblastoma Terminated NCT00432445 Phase 2
38 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
39 Intra-arterial Chemotherapy for the Treatment of Intraocular Retinoblastoma Terminated NCT01293539 Phase 2 Melphalan hydrochloride
40 Intra-arterial Chemotherapy for Advanced Intraocular Retinoblastoma Withdrawn NCT01151748 Phase 2
41 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa, Etoposide and Carboplatin) and Autologous Stem Cell Rescue Withdrawn NCT00003273 Phase 2 carboplatin;cisplatin;cyclophosphamide;etoposide;leucovorin calcium;methotrexate;temozolomide;thiotepa;vincristine sulfate
42 Phase I Dose-Escalation Study of Seneca Valley Virus (SVV-001), a Replication-Competent Picornavirus, in Patients With Advanced Solid Tumors With Neuroendocrine Features Unknown status NCT00314925 Phase 1 Seneca Valley Virus (biological agent)
43 Phase I Study of Intrathecal 131-I-3F8 Monoclonal Antibody in Patients With GD2 Positive Leptomeningeal Neoplasms Completed NCT00003022 Phase 1
44 Toxicity and Activity of Periocular Topotecan in Children With Retinoblastoma Completed NCT00460876 Phase 1 Topotecan
45 Intravitreal Carboplatin for the Treatment of Participants With Recurrent or Refractory Intraocular Retinoblastoma Completed NCT02792036 Phase 1 Carboplatin;Maxitrol®
46 A Phase 1 Study Using Simvastatin in Combination With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors Completed NCT02390843 Phase 1 Simvastatin;Cyclophosphamide;Topotecan;Myeloid growth factor
47 Phase I Study of Intrathecal Spartaject-Busulfan in Children With Neoplastic Meningitis Completed NCT00006246 Phase 1 busulfan
48 High Dose Carboplatin Combined With Oral VP-16 In The Treatment Of Pediatric CNS Malignancies Completed NCT00053118 Phase 1 carboplatin;etoposide
49 A PHASE I STUDY OF FLAVOPIRIDOL (NSC# 649890; IND# 46211) IN PATIENTS WITH RELAPSED OR REFRACTORY PEDIATRIC SOLID TUMORS OR LYMPHOMAS Completed NCT00012181 Phase 1 alvocidib
50 A Phase 1 Dose Escalation Study of Seneca Valley Virus (NTX-010), A Replication-Competent Picornavirus, in Relapsed/Refractory Pediatric Patients With Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features Completed NCT01048892 Phase 1 cyclophosphamide

Search NIH Clinical Center for Familial Retinoblastoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Cyclophosphamide

Cochrane evidence based reviews: retinoblastoma

Genetic Tests for Familial Retinoblastoma

Genetic tests related to Familial Retinoblastoma:

# Genetic test Affiliating Genes
1 Hereditary Retinoblastoma 29

Anatomical Context for Familial Retinoblastoma

MalaCards organs/tissues related to Familial Retinoblastoma:

40
Pineal, Myeloid, Retina, Bone Marrow, Bone, Liver, Skin

Publications for Familial Retinoblastoma

Articles related to Familial Retinoblastoma:

(show top 50) (show all 357)
# Title Authors PMID Year
1
Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. 54 61
18386058 2008
2
Crystal structure of the retinoblastoma protein N domain provides insight into tumor suppression, ligand interaction, and holoprotein architecture. 54 61
17996702 2007
3
[Retinoblatoma: a review]. 54 61
16930963 2006
4
Retinoblastoma. 54 61
16934146 2006
5
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation. 61 54
16343894 2006
6
Conservation of the RB1 gene in human and primates. 61 54
15776430 2005
7
Retinoblastoma: revisiting the model prototype of inherited cancer. 61 54
15264269 2004
8
Detection of allelic imbalance in the gene expression of hMSH2 or RB1 in lymphocytes from pedigrees of hereditary, nonpolyposis, colorectal cancer and retinoblastoma by an RNA difference plot. 54 61
15480874 2004
9
A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma. 54 61
12011162 2002
10
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. 54 61
10486322 1999
11
[Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma]. 61 54
9621119 1998
12
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online. 61 54
10671068 1998
13
Role of the retinoblastoma protein in the pathogenesis of human cancer. 54 61
9363859 1997
14
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 61 54
8651278 1996
15
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 61 54
8605116 1995
16
[Genetics of retinoblastoma]. 54 61
8538043 1995
17
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 61 54
7795591 1995
18
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. 54 61
7927327 1994
19
Molecular analysis of alleles segregation at RFLPs within RB-1 gene in four families with hereditary retinoblastoma. 61 54
7603079 1994
20
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 54 61
7704558 1994
21
Utilization of a polymorphic variable-number-tandem-repeat DNA region within the RB1 gene for early diagnosis of hereditary retinoblastoma. 61 54
8100222 1993
22
Molecular characterization of the retinoblastoma susceptibility gene. 61 54
8504130 1993
23
An association of the RB gene with osteosarcoma: molecular genetic evaluation of a case of hereditary retinoblastoma. 61 54
8217129 1993
24
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis. 61 54
1577465 1992
25
The retinoblastoma gene and gene product. 54 61
1638547 1992
26
Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors. 61
33473166 2021
27
[Orbital leiomyosarcoma post-irradiated hereditary retinoblastoma: A case study]. 61
33280903 2021
28
Low-grade glioma: A rare second tumor in retinoblastoma survivors. 61
33063942 2021
29
13q interstitial deletion in a moroccan child with hereditary retinoblastoma and intellectual disability: A case report. 61
33224486 2020
30
Isolated choroidal melanocytosis: clinical update on 37 cases. 61
32902757 2020
31
Secondary acute myeloid leukemia in a child treated for retinoblastoma: A case report with review of literature. 61
33532438 2020
32
Central Serous Chorioretinopathy in a Case of Regressed Familial Retinoblastoma. 61
33133447 2020
33
Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries. 61
32933936 2020
34
Retinoblastoma in Infancy with Subsequent Bladder Leiomyosarcoma in Adulthood: Genomic Considerations. 61
32197986 2020
35
Magnetic Resonance Imaging Screening for Trilateral Retinoblastoma: The Memorial Sloan Kettering Cancer Center Experience 2006-2016. 61
31948910 2020
36
Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma with Myxoid Stroma in a Hereditary Retinoblastoma Survivor. 61
32258014 2020
37
Secondary Sarcomas: Biology, Presentation, and Clinical Care. 61
32213089 2020
38
Bone and Soft-Tissue Sarcoma Risk in Long-Term Survivors of Hereditary Retinoblastoma Treated With Radiation. 61
31622129 2019
39
Patterns of Cause-Specific Mortality Among 2053 Survivors of Retinoblastoma, 1914-2016. 61
30698734 2019
40
CLINICALLY INVISIBLE RETINOBLASTOMA RECURRENCE IN AN INFANT. 61
28248744 2019
41
Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. 61
30449636 2019
42
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy. 61
30031154 2019
43
Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? 61
29336617 2018
44
Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma. 61
29151167 2018
45
Clinical pattern of Retinoblastoma in Pakistani population: Review of 403 eyes in 295 patients. 61
29540871 2018
46
Parental occupational exposures and the risk of childhood sporadic retinoblastoma: a report from the Children's Oncology Group. 61
29074554 2018
47
Quadruple Neoplasms following Radiation Therapy for Congenital Bilateral Retinoblastoma. 61
29344496 2017
48
Venous Loop Reveals an Occult Retinoblastoma Tumor. 61
28902340 2017
49
[The progress and prospect of application of genetic testing technology-based gene detection technology in the diagnosis and treatment of hereditary cancer]. 61
28763932 2017
50
Psychosocial determinants for treatment decisions in familial retinoblastoma. 61
28085520 2017

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
13.49 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
11.95 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 10.13 WRN TP53 RBL1 RB1 PRIM1 MDM2
3 nucleolus GO:0005730 9.97 WRN TP53 NF1 MDM2 E2F8 E2F5
4 chromatin GO:0000785 9.9 TP53 RBL1 RB1 E2F8 E2F7 E2F6
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 10.13 TP53 RB1 E2F8 E2F7 E2F6 E2F5
2 regulation of transcription by RNA polymerase II GO:0006357 10.11 TP53 RBL1 RB1 MDM2 E2F8 E2F7
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.07 TP53 RBL1 RB1 MDM2 E2F8 E2F7
4 negative regulation of cell proliferation GO:0008285 10 TP53 RB1 NF1 E2F7 CDKN2A
5 negative regulation of gene expression GO:0010629 9.95 TP53 RBL1 RB1 MDM2
6 negative regulation of protein kinase activity GO:0006469 9.8 RB1 NF1 CDKN2A
7 G1/S transition of mitotic cell cycle GO:0000082 9.8 RB1 PRIM1 E2F3 CDKN2A CDK4
8 regulation of cell cycle GO:0051726 9.8 TP53 RBL1 RB1 E2F5 E2F2 CDK4
9 Ras protein signal transduction GO:0007265 9.76 TP53 RB1 NF1 CDKN2A
10 positive regulation of transcription by RNA polymerase II GO:0045944 9.7 TP53 RBL1 RB1 MDM2 E2F8 E2F7
11 cellular response to gamma radiation GO:0071480 9.69 WRN TP53 MDM2
12 DNA unwinding involved in DNA replication GO:0006268 9.65 WRN RECQL4
13 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.65 RBL1 RB1 E2F7 CDKN2A CDK4
14 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.64 TP53 E2F7
15 hepatocyte differentiation GO:0070365 9.64 E2F8 E2F7
16 trophoblast giant cell differentiation GO:0060707 9.63 E2F8 E2F7
17 cardiac septum morphogenesis GO:0060411 9.63 TP53 MDM2
18 amyloid fibril formation GO:1990000 9.62 MDM2 CDKN2A
19 telomeric D-loop disassembly GO:0061820 9.61 WRN RECQL4
20 DNA strand renaturation GO:0000733 9.61 TP53 RECQL4
21 replicative senescence GO:0090399 9.61 WRN TP53 CDKN2A
22 cellular response to UV-C GO:0071494 9.59 TP53 MDM2
23 negative regulation of cytokinesis GO:0032466 9.58 E2F8 E2F7
24 negative regulation of neuroblast proliferation GO:0007406 9.58 TP53 NF1
25 chorionic trophoblast cell differentiation GO:0060718 9.57 E2F8 E2F7
26 regulation of lipid kinase activity GO:0043550 9.56 RBL1 RB1
27 cellular response to actinomycin D GO:0072717 9.55 TP53 MDM2
28 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.55 TP53 MDM2 E2F8 E2F7 E2F4
29 negative regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0071930 9.54 RB1 E2F7
30 positive regulation of DNA endoreduplication GO:0032877 9.49 E2F8 E2F7
31 cell cycle GO:0007049 9.36 TP53 RBL1 RB1 E2F8 E2F7 E2F6

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.49 WRN TSPAN31 TP53 RECQL4 RBL1 RB1
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 10.08 TP53 E2F8 E2F7 E2F6 E2F5 E2F4
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10.06 TP53 E2F8 E2F7 E2F6 E2F5 E2F4
5 sequence-specific double-stranded DNA binding GO:1990837 9.99 E2F8 E2F7 E2F4 E2F3 E2F2
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.95 TP53 MDM2 E2F4 E2F3 E2F2
7 DNA-binding transcription factor activity GO:0003700 9.92 TP53 E2F8 E2F7 E2F6 E2F5 E2F4
8 protein dimerization activity GO:0046983 9.83 E2F6 E2F5 E2F4 E2F3 E2F2
9 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.8 TP53 RBL1 RB1 E2F7 E2F6 E2F3
10 p53 binding GO:0002039 9.75 TP53 MDM2 CDKN2A
11 promoter-specific chromatin binding GO:1990841 9.71 TP53 RBL1 E2F4
12 transcription factor binding GO:0008134 9.7 TP53 RBL1 RB1 E2F5 E2F4 E2F2
13 disordered domain specific binding GO:0097718 9.67 TP53 RB1 MDM2 CDKN2A
14 SUMO transferase activity GO:0019789 9.61 MDM2 CDKN2A
15 3'-5' DNA helicase activity GO:0043138 9.6 WRN RECQL4
16 MDM2/MDM4 family protein binding GO:0097371 9.58 TP53 CDKN2A
17 bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding GO:0001217 9.57 E2F8 E2F7
18 bubble DNA binding GO:0000405 9.56 WRN RECQL4
19 four-way junction helicase activity GO:0009378 9.52 WRN RECQL4
20 telomeric D-loop binding GO:0061821 9.49 WRN RECQL4
21 proximal promoter sequence-specific DNA binding GO:0000987 9.35 TP53 E2F8 E2F7 E2F3 E2F2
22 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 8.92 TP53 E2F5 E2F4 E2F3

Sources for Familial Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....