RB
MCID: RTN024
MIFTS: 70

Retinoblastoma (RB) malady

Eye, Cancer categories

Summaries for Retinoblastoma

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 Retinoblastoma (rb) is a rare type of eye cancer in the retina that typically develops before the age of 5. it usually affects only one eye, but 1/3 of children with rb develop cancer in both eyes. the first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. other signs and symptoms include strabismus; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). retinoblastoma is caused by mutations in the rb1 gene. in about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. in the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). retinoblastoma that occurs in only one eye is usually not inherited. retinoblastoma that occurs in both eyes is thought to be inherited. last updated: 4/4/2012

MalaCards: Retinoblastoma, also known as RB, is related to bilateral retinoblastoma and trilateral retinoblastoma, and has symptoms including retinoblastomaand autosomal dominant inheritance. An important gene associated with Retinoblastoma is RB1 (retinoblastoma 1), and among its related pathways are Cell Cycle and E2F transcription factor network. The drug cyclophosphamide and the compounds polypropylene glycol and hpvs have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and cellular.

Disease Ontology:8 A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives from the tissues of the retina.

Genetics Home Reference:21 Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.

Wikipedia:64 Retinoblastoma (Rb) is a rapidly developing cancer that develops from the immature cells of a retina,... more...

Description from OMIM:47 180200

GeneReviews summary for retinoblastoma

Aliases & Classifications for Retinoblastoma

Sources:
43NIH Rare Diseases, 61UMLS, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 20GeneTests, 22GTR, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
retinoblastoma:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

retinoblastoma 8 9 64 19 43 21 47 10 45 49 61
rb 8 64 43 21
retinoblastomas 8 20 22
papillorenal syndrome 19 61
glioma, retinal 64 21
malignant neoplasm of retina 61
eye cancer, retinoblastoma 43
neuroblastoma of retina 8
neuroblastoma, retinal 64
glioblastoma, retinal 64
rb - retinoblastoma 8
retinoblastoma nos 8
retinal neoplasms 61
retinal cancer 43
retinal tumor 43


External Ids:

Disease Ontology8 DOID:768
OMIM47 180200
NCIt40 C7541, C6956
MeSH35 D012175
ICD10 via Orphanet26 C69.2
SNOMED-CT via Orphanet58 19906005, 370967009
UMLS via Orphanet62 C0035335
MESH via Orphanet36 D012175

Related Diseases for Retinoblastoma

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Retinoblastoma family:

familial retinoblastoma bilateral retinoblastoma
unilateral retinoblastoma

Diseases related to Retinoblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1bilateral retinoblastoma10.9
2trilateral retinoblastoma10.8
3unilateral retinoblastoma10.8
4familial retinoblastoma10.6
5renal coloboma syndrome10.6
6squamous cell carcinoma10.5
7cellulitis10.4
8adenocarcinoma10.4
9orbital cellulitis10.3
10roberts syndrome10.3
11small cell carcinoma10.3
12adenoma10.3
13acute leukemia10.3
14retinitis pigmentosa10.2
15coats disease10.2
16bladder carcinoma10.2
17pineal cyst10.2
18audiogenic seizures10.2
19pituitary tumors10.2
20squamous cell papilloma10.2
21pediatric extraocular retinoblastoma10.2
22leukocoria10.2
23pediatric intraocular retinoblastoma10.2
24astrocytoma10.2
25t-cell leukemia10.2
26retinoblastoma fa - friedreich ataxia10.2
27hypoxia10.2
28coloboma10.1
29microphthalmia10.1
30wilson disease10.1
31merkel cell carcinoma10.1
32colorectal cancer10.1
33esophageal squamous cell carcinoma10.1
34oral cancer10.1
35respiratory bronchiolitis - interstitial lung disease10.1
36potter's syndrome10.1
37papillary carcinoma10.1
38fibrous histiocytoma10.1
39panophthalmitis10.1
40thyroid cancer10.1
41cervical intraepithelial neoplasia10.1
42soft tissue sarcoma10.1
43lung cancer susceptibility10.1
44bronchiolitis10.0
45cholera10.0
46hydronephrosis10.0
47basal cell carcinoma10.0
481p36 deletion syndrome10.0
49breast cancer10.0E2F1, ARID4A, ARID4B, RB1, RBBP8, RBL2
50melanoma10.0E2F1, ARID4A, RB1, RBL2, RBL1

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to retinoblastoma

Clinical Features for Retinoblastoma

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

180200

Clinical synopsis from OMIM:

180200

Symptoms:

49
  • retinoblastoma
  • autosomal dominant inheritance

Drugs & Therapeutics for Retinoblastoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Retinoblastoma

Drug clinical trials:

Search ClinicalTrials for Retinoblastoma

Search NIH Clinical Center for Retinoblastoma

Search CenterWatch for Retinoblastoma

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Retinoblastoma

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Retinoblastoma:

id Genetic test Affiliating Genes
1 Retinoblastoma20 22 RB1

Anatomical Context for Retinoblastoma

Animal Models for Retinoblastoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Retinoblastoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200611.9E2F1, KDM5A, PRDM2, RBL1, RBL2, RBBP8
2MP:000538411.9RBBP8, KDM5A, ARID4B, RBL1, UBR4, E2F1
3MP:001076811.9RB1, KDM5A, PRDM2, RBL1, RBL2, RBBP8
4MP:000538011.7RB1, RBBP8, RBL2, RBL1, E2F1, RBBP7
5MP:000538811.4ARID4A, ARID4B, RB1, RBL2, RBL1, E2F1

Publications for Retinoblastoma

Sources:
51PubMed
See all sources

Articles related to Retinoblastoma:

(show top 50)    (show all 2187)
idTitleAuthorsYear
1
Heritable retinoblastoma and accelerated aortic valve disease. (23595191)
2013
2
Carboplatin +/- topotecan ophthalmic artery chemosurgery for intraocular retinoblastoma. (23991112)
2013
3
Novel roles of plant RETINOBLASTOMA-RELATED (RBR) protein in cell proliferation and asymmetric cell division. (24323507)
2013
4
Orthotopic transplantation of retinoblastoma cells into vitreous cavity of zebrafish for screening of anticancer drugs. (23835085)
2013
5
Posttranslational modifications of the retinoblastoma tumor suppressor protein as determinants of function. (23634251)
2012
6
Intra-arterial chemotherapy for retinoblastoma. (22858038)
2012
7
Retinoblastoma 94 enhances radiation treatment of esophageal squamous cell carcinoma in vitro and in vivo. (22302052)
2012
8
Sarcomas in hereditary retinoblastoma. (23036192)
2012
9
Bilateral retinoblastoma presenting at retinopathy of prematurity screening. (20576664)
2010
10
Successful treatment of trilateral retinoblastoma with conventional and high-dose chemotherapy plus radiotherapy: a case report. (20881869)
2010
11
Sonic hedgehog signaling induces vascular smooth muscle cell proliferation via induction of the G1 cyclin-retinoblastoma axis. (20720195)
2010
12
Interaction between HMGA1 and retinoblastoma protein is required for adipocyte differentiation. (19633359)
2009
13
SRPK1: a cisplatin sensitive protein expressed in retinoblastoma. (17091485)
2008
14
Apigenin-induced cell cycle arrest is mediated by modulation of MAPK, PI3K-Akt, and loss of cyclin D1 associated retinoblastoma dephosphorylation in human prostate cancer cells. (17457054)
2007
15
Dexamethasone inhibits paclitaxel-induced cytotoxic activity through retinoblastoma protein dephosphorylation in non-small cell lung cancer cells. (17143528)
2007
16
Structure of the retinoblastoma protein bound to adenovirus E1A reveals the molecular basis for viral oncoprotein inactivation of a tumor suppressor. (17974914)
2007
17
Retinoblastoma-related geneRb2/p130 are rarely mutated in Burkitt's lymphoma from Brazil. (16955460)
2007
18
Expression of motility-related protein MRP1/CD9, N-cadherin, E-cadherin, alpha-catenin and beta-catenin in retinoblastoma. (17316610)
2007
19
Small molecule inhibition of HDM2 leads to p53-mediated cell death in retinoblastoma cells. (16966622)
2006
20
NF-kappa B-dependent induction of cyclin D1 by retinoblastoma protein (pRB) family proteins and tumor-derived pRB mutants. (12594215)
2003
21
The retinoblastoma protein interacts with Bag-1 in human colonic adenoma and carcinoma derived cell lines. (12845674)
2003
22
Protein Phosphatase 1 binds strongly to the retinoblastoma protein but not to p107 or p130 in vitro and in vivo. (12434308)
2002
23
The retinoblastoma gene product interacts with maintenance human DNA (cytosine-5) methyltransferase and modulates its activity. (11847125)
2002
24
Characterization of the gene encoding mouse retinoblastoma binding protein-7, a component of chromatin-remodeling complexes. (12376095)
2002
25
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. (12011162)
2002
26
Retinoblastoma presenting as panophthalmitis: clinicopathological study of a case. (12051285)
2002
27
Altered expression of retinoblastoma protein-interacting zinc finger gene, RIZ, in human leukaemia. (12472571)
2002
28
Brief report: conservative treatment in unilateral retinoblastoma: a preliminary report. (11984807)
2002
29
Retinoblastoma family proteins induce differentiation and regulate B-myb expression in neuroblastoma cells. (11464857)
2001
30
Differential regulation of retinoblastoma tumor suppressor protein by G(1) cyclin-dependent kinase complexes in vivo. (11416152)
2001
31
Loss of heterozygosity on chromosomes 3, 9, 13, and 17, including the retinoblastoma locus, in uveal melanoma. (11581185)
2001
32
A geminivirus replication protein interacts with the retinoblastoma protein through a novel domain to determine symptoms and tissue specificity of infection in plants. (10880461)
2000
33
Immunohistochemical expression of retinoblastoma gene product (Rb), p53 protein, MDM2, c-erbB-2, HLA-DR and proliferation indices in human urinary bladder carcinoma. (10963116)
2000
34
p53 regulation of G(2) checkpoint is retinoblastoma protein dependent. (10825186)
2000
35
Frequency and nature of germline Rb-1 gene mutations in a series of patients with sporadic unilateral retinoblastoma. (10673998)
1999
36
PTEN tumour suppressor is linked to the cell cycle control through the retinoblastoma protein. (10602505)
1999
37
RB1 gene mutations in retinoblastoma. (10502774)
1999
38
The retinoblastoma tumor suppressor inhibits cellular proliferation through two distinct mechanisms: inhibition of cell cycle progression and induction of cell death. (10498874)
1999
39
The promyelocytic leukemia gene product (PML) forms stable complexes with the retinoblastoma protein. (9448006)
1998
40
Triple ribozyme-mediated down-regulation of the retinoblastoma gene. (9683181)
1998
41
Proposal for a New Staging Scheme for Intraocular and Extraocular Retinoblastoma Based on an Analysis of 103 Globes. (10388023)
1997
42
Loss of heterozygosity in the VNTR region of intron 1 of P53 in two retinoblastoma cases. (8735341)
1996
43
Failure to detect mutations in the retinoblastoma protein-binding domain of the transcription factor E2F-1 in human cancers. (9045954)
1996
44
Treatment of intraocular retinoblastoma with carboplatin and etoposide chemotherapy. (9003332)
1996
45
Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16. (7777060)
1995
46
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. (7704558)
1994
47
Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease. (8432554)
1993
48
High frequency of monoallelic retinoblastoma gene deletion in B-cell chronic lymphoid leukemia shown by interphase cytogenetics. (8471770)
1993
49
Trilateral retinoblastoma. (3784984)
1986
50
Spontaneous regression of unilateral retinoblastoma in a father of three sons with bilateral retinoblastoma. (4094733)
1985

Genetic Variations for Retinoblastoma

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Retinoblastoma:

63 (show all 22)
id Symbol AA change Variation SNP ID
1RB1p.Glu72GlnVAR_005572
2RB1p.Glu137AspVAR_005573
3RB1p.Ile185ThrVAR_005574
4RB1p.Arg358GlnVAR_005575
5RB1p.Met457ArgVAR_005576
6RB1p.His549TyrVAR_005578
7RB1p.Ser567LeuVAR_005579
8RB1p.Ala635ProVAR_005580
9RB1p.Val654GluVAR_005581
10RB1p.Arg661TrpVAR_005582
11RB1p.Leu662ProVAR_005583
12RB1p.His673ProVAR_005584
13RB1p.Gln685ProVAR_005585
14RB1p.Cys706TyrVAR_005586
15RB1p.Cys712ArgVAR_005587
16RB1p.Asn803LysVAR_005588
17RB1p.Arg358GlyVAR_010046
18RB1p.Lys447GlnVAR_010048
19RB1p.Lys530ArgVAR_010049
20RB1p.Leu657ProVAR_010050
21RB1p.Arg500GlyVAR_011580
22RB1p.Lys616GluVAR_011581

Expression for genes affiliated with Retinoblastoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Retinoblastoma

Search GEO for disease gene expression data for Retinoblastoma.

Pathways for genes affiliated with Retinoblastoma

Sources:
54Reactome, 38NCBI BioSystems Database, 4Cell Signaling Technology, 52QIAGEN, 12EMD Millipore, 30KEGG
See all sources

Pathways related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.5NDC80, E2F1, RB1, RBL2, RBBP7, RBBP4
211.4RBL1, RBBP4, RBL2, RBBP8, RB1, E2F1
311.4RBBP5, RBBP7, RBBP4, RNF40, KDM5A, KDM5B
4
Hide members
11.2RB1, RBL2, RBBP7, RBBP4, RBL1
5
Hide members
11.2E2F1, RB1, RBL2, RBBP4, RBL1
6
Cell cycle Cell cycle (generic schema)
Hide members
11.2E2F1, RB1, RBL2, RBBP4, RBL1
7
Transcription P53 signaling pathway
Hide members
11.1RBBP4, RBBP7, RB1, E2F1
8
Hide members
11.1E2F1, RB1, RBBP8, RNF40
9
Hide members
11.1ARID4A, ARID4B, RBBP7, RBBP4
10
Hide members
11.1RBL1, RBL2, RB1, E2F1
11
Hide members
11.1E2F1, RB1, RBL2, RBL1
1211.1E2F1, RB1, RBL2, RBL1
1311.1UBR4, RB1, RBL2, RBL1
14
Hide members
10.9RBBP8, RBBP7, RBBP4
1510.9E2F1, RB1, RBBP8
1610.9RBBP8, RB1, E2F1
1710.9RBL1, RBBP4, RBBP7
1810.9E2F1, RBBP7, RBBP4
1910.9RBL1, RBL2, RB1
2010.9RBL2, RB1, E2F1
2110.8RB1, E2F1
2210.8RB1, E2F1

Compounds for genes affiliated with Retinoblastoma

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Retinoblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polypropylene glycol4511.1RBL1, RBL2, RB1
2hpvs4511.1RB1, RBL2, RBL1
3dihydrofolate4511.0RBL1, RB1, E2F1
4flavopiridol45 1112.0E2F1, RB1, RBL1
5tgf beta14510.9RBL1, RBL2, E2F1
6lactacystin4510.8RBL1, RBL2, E2F1
7butyrolactone i4510.8RB1, E2F1
8lovastatin45 50 60 29 1114.6E2F1, RB1, RBL1

GO Terms for genes affiliated with Retinoblastoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Retinoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00563413.0KDM5B, NDC80, UBR4, E2F1, ARID4A, ARID4B
2nucleoplasmGO:00565411.3RBBP4, RBL1, RBBP7, E2F1, RB1, RBL2
3Rb-E2F complexGO:03518910.8RB1, E2F1
4NuRD complexGO:01658110.8RBBP4, RBBP7
5ESC/E(Z) complexGO:03509810.5RBBP4, RBBP7

Biological processes related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-dependentGO:00635112.4E2F1, ARID4B, RBBP5, RB1, RBL2, RBBP7
2regulation of transcription, DNA-dependentGO:00635511.6E2F1, ARID4B, RBBP5, RBL2, RBBP4, DDX1
3mitotic cell cycleGO:00027811.6NDC80, E2F1, RB1, RBL2, RBBP4, RBL1
4regulation of lipid kinase activityGO:04355011.2RBL1, RBL2, RB1
5histone H3-K9 trimethylationGO:03612411.0ARID4A, ARID4B
6chromatin modificationGO:01656810.9KDM5A, RBL1, RBL2
7negative regulation of transcription involved in G1/S transition of mitotic cell cycleGO:07193010.9RB1, E2F1
8histone H4-K20 trimethylationGO:03477310.9ARID4B, ARID4A
9CENP-A containing nucleosome assembly at centromereGO:03408010.8RBBP4, RBBP7
10cell cycle checkpointGO:00007510.7RB1, RBBP8
11regulation of gene expression by genetic imprintingGO:00634910.5ARID4B, ARID4A

Molecular functions related to Retinoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.8RBBP4, RNF40, DDX1, RBL1, RBBP7, RBL2
2DNA bindingGO:00367711.8KDM5B, DDX1, KDM5A, PRDM2, RBL2, RB1
3zinc ion bindingGO:00827011.4RNF40, PRDM2, RBBP6, UBR4, KDM5B, KDM5A
4sequence-specific DNA binding transcription factor activityGO:00370011.3E2F1, KDM5B, KDM5A, PRDM2, RB1, ARID4A
5oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donGO:01670610.5KDM5B, KDM5A

Products for genes affiliated with Retinoblastoma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinoblastoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet