RB
MCID: RTN024
MIFTS: 86

Retinoblastoma (RB) malady

Eye diseases, Cancer diseases, Neuronal diseases categories

Summaries for Retinoblastoma

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 breast cancer and osteosarcoma, 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. Affiliated tissues include retina, eye and breast, and 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:63 Retinoblastoma (Rb) is a rapidly developing cancer that develops from the immature cells of a retina,... more...

Description from OMIM:46 180200

GeneReviews summary for retinoblastoma

Aliases & Classifications for Retinoblastoma

About this section
Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
retinoblastoma:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

retinoblastoma 8 9 63 19 42 21 46 10 44 48 60
rb 8 63 42 21
retinoblastomas 8 20 22
glioma, retinal 63 21
malignant neoplasm of retina 60
eye cancer, retinoblastoma 42
neuroblastoma of retina 8
neuroblastoma, retinal 63
glioblastoma, retinal 63
papillorenal syndrome 60
rb - retinoblastoma 8
retinoblastoma nos 8
retinal neoplasms 60
retinal cancer 42
retinal tumor 42


External Ids:

Disease Ontology8 DOID:768
OMIM46 180200
NCIt39 C7541, C6956
MeSH34 D012175
ICD10 via Orphanet26 C69.2
SNOMED-CT via Orphanet57 19906005, 370967009
UMLS via Orphanet61 C0035335
MESH via Orphanet35 D012175

Related Diseases for Retinoblastoma

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Retinoblastoma family:

Familial Retinoblastoma

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

(show top 50)    (show all 263)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.8ARID4B, ARID4A, E2F1, RB1, RBBP8, RBL2
2osteosarcoma30.7RB1, E2F1, RBL2, RBL1
3lung cancer30.7E2F1, RBL1, RB1, PRDM2, RBL2
4melanoma30.6E2F1, ARID4A, RB1, RBL2, RBL1
5neuroblastoma30.4DDX1
6lung small cell carcinoma30.3RB1, E2F1, RBL2, RBL1
7cervical cancer30.2RB1
8papilloma30.2E2F1, RBL2, RBL1, RB1
9medulloblastoma30.0PRDM2, E2F1
10ovarian cancer29.9RB1, E2F1, PRDM2
11bilateral retinoblastoma10.9
12familial retinoblastoma10.8
13intraocular retinoblastoma10.8
14trilateral retinoblastoma10.8
15unilateral retinoblastoma10.7
16renal coloboma syndrome10.6
17retinitis10.5
18neuronitis10.5
19prostatitis10.5
20squamous cell carcinoma10.5
21leukemia10.4
22extraocular retinoblastoma10.4
23sarcoma10.4
24cervicitis10.4
25adenocarcinoma10.3
26prostate cancer10.3
27thyroiditis10.3
28cellulitis10.3
29orbital cellulitis10.3
30small cell carcinoma10.3
31leiomyosarcoma10.3
32roberts syndrome10.3
33esophagitis10.3
34acute leukemia10.2
35hepatocellular carcinoma10.2
36pineoblastoma10.2
37coats disease10.2
38bladder carcinoma10.2
39non-small cell lung carcinoma10.2
40adenoma10.2
41myeloma10.2
42pancreatitis10.2
43pediatric extraocular retinoblastoma10.1
44leukocoria10.1
45pediatric intraocular retinoblastoma10.1
46astrocytoma10.1
47esophageal cancer10.1
48multiple myeloma10.1
49primitive neuroectodermal tumor10.1
50retinoblastoma fa - friedreich ataxia10.1

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to retinoblastoma

Clinical Features for Retinoblastoma

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

180200

Clinical synopsis from OMIM:

180200

Symptoms:

48
  • retinoblastoma
  • autosomal dominant inheritance

Drugs & Therapeutics for Retinoblastoma

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Retinoblastoma

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Retinoblastoma:

id Genetic test Affiliating Genes
1 Retinoblastoma20 22 RB1

Anatomical Context for Retinoblastoma

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Retinoblastoma:

32
Retina, Eye, Breast, Lung, Prostate, Pituitary, Thyroid, Endothelial, T cells, Bone, Pineal, Adipocyte, B cells, Smooth muscle, Colon, Liver, Monocytes, Brain, Myeloid, Testes, Skin, Pancreas, Spinal cord, Cervix, Nk cells, Placenta, Salivary gland, Cardiac myocytes, Testis, Bone marrow

Animal Models for Retinoblastoma or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Retinoblastoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200611.9KDM5A, E2F1, ARID4A, ARID4B, RB1, RBBP8
2MP:000538411.9UBR4, E2F1, ARID4A, ARID4B, RBBP6, RB1
3MP:001076811.9ARID4B, ARID4A, E2F1, UBR4, RBBP6, RB1
4MP:000538011.7UBR4, E2F1, RBBP6, RB1, RBBP8, RBL2
5MP:000538811.4ARID4A, ARID4B, RB1, RBL2, RBL1, E2F1

Publications for Retinoblastoma

About this section
Sources:
50PubMed
See all sources

Articles related to Retinoblastoma:

(show top 50)    (show all 2172)
idTitleAuthorsYear
1
Post-chemoreduction cryptic optic nerve relapse in a patient with bilateral retinoblastoma. (23172878)
2013
2
Clinical Pharmacokinetics of Intra-arterial Melphalan and Topotecan Combination in Patients with Retinoblastoma. (24359624)
2013
3
Retinoblastoma. (24100372)
2013
4
Increased leaf mesophyll porosity following transient retinoblastoma-related protein silencing is revealed by microcomputed tomography imaging and leads to a system-level physiological response to the altered cell division pattern. (24118480)
2013
5
Arterial territory-specific phosphorylated retinoblastoma protein species and CDK2 promote differences in the vascular smooth muscle cell response to mitogens. (24240190)
2013
6
Anti-apoptotic function of the E2F transcription factor 4 (E2F4)/p130, a member of retinoblastoma gene family in cardiac myocytes. (22985930)
2012
7
Selective ophthalmic arterial injection therapy for intraocular retinoblastoma: the long-term prognosis. (21715012)
2011
8
Periocular topotecan for intraocular retinoblastoma. (21670340)
2011
9
Detection of survivin protein in aqueous humor and serum of retinoblastoma patients and its clinical significance. (19913527)
2010
10
B55alpha PP2A holoenzymes modulate the phosphorylation status of the retinoblastoma-related protein p107 and its activation. (20663872)
2010
11
Paclitaxel and beta-lapachone synergistically induce apoptosis in human retinoblastoma Y79 cells by downregulating the levels of phospho-Akt. (19918798)
2010
12
Isolated group B streptococcal endogenous endophthalmitis simulating retinoblastoma or persistent fetal vasculature in a healthy full-term infant. (20637664)
2010
13
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma. (18509746)
2009
14
The p53-mediated sensitivity of cancer cells to chemotherapeutic agents is conditioned by the status of the retinoblastoma protein. (19731257)
2009
15
Expression of cyclin D1 and retinoblastoma protein in Paget's disease of the vulva and breast: an immunohistochemical study of 108 cases. (19919588)
2009
16
Expression of retinoblastoma and cyclin D1 in gastric carcinoma. (19152247)
2009
17
Role of DEAD box 1 in retinoblastoma and neuroblastoma. (17927523)
2007
18
A functional genetic screen identifies TFE3 as a gene that confers resistance to the anti-proliferative effects of the retinoblastoma protein and transforming growth factor-beta. (16737956)
2006
19
Expression of altered retinoblastoma protein inversely correlates with tumor invasion in gastric carcinoma. (17131485)
2006
20
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. (15884040)
2005
21
Retinoic acid modulates the retinoblastoma protein during adipocyte terminal differentiation. (15949692)
2005
22
A retinoic acid receptor beta/gamma-selective prodrug (tazarotene) plus a retinoid X receptor ligand induces extracellular signal-regulated kinase activation, retinoblastoma hypophosphorylation, G0 arrest, and cell differentiation. (15383624)
2004
23
Human pituitary adenomas infrequently contain inactivation of retinoblastoma 1 gene and activation of cyclin dependent kinase 4 gene. (12940460)
2003
24
Binding of phosphatase-1 delta to the retinoblastoma protein pRb involves domains that include substrate recognition residues and a pRB binding motif. (11162467)
2001
25
Src family kinase activity is required for Kit-mediated mitogen-activated protein (MAP) kinase activation, however loss of functional retinoblastoma protein makes MAP kinase activation unnecessary for growth of small cell lung cancer cells. (10910097)
2000
26
p16INK4A is regularly expressed in Hodgkin's disease: comparison with retinoblastoma, p53 and MDM2 protein status, and the presence of Epstein-Barr virus. (10574604)
1999
27
Distinct roles for PP1 and PP2A in phosphorylation of the retinoblastoma protein. PP2a regulates the activities of G(1) cyclin-dependent kinases. (10542219)
1999
28
Inhibition of myeloma cell growth by all-trans retinoic acid is associated with upregulation of p21WAF1 and dephosphorylation of the retinoblastoma protein. (10706449)
1999
29
Nasopharyngeal carcinomas frequently lack the p16/MTS1 tumor suppressor protein but consistently express the retinoblastoma gene product. (9546345)
1998
30
Cyclin D1 and retinoblastoma protein expression in Kaposi's sarcoma. (9449484)
1997
31
The retinoblastoma family member p107 binds to B-MYB and suppresses its autoregulatory activity. (8910512)
1996
32
Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma. (8900237)
1996
33
Retinoblastoma protein positively regulates terminal adipocyte differentiation through direct interaction with C/EBPs. (8946919)
1996
34
Constitutional nonsense germline mutations in the RB1 gene detected in patients with early onset unilateral retinoblastoma. (8983285)
1996
35
Abnormalities and the implication of retinoblastoma locus and its protein product in head and neck cancers. (8687109)
1996
36
The retinoblastoma susceptibility gene product regulates Myc-mediated transcription. (7838535)
1995
37
Functional interactions between the retinoblastoma (Rb) protein and Sp-family members: superactivation by Rb requires amino acids necessary for growth suppression. (7732011)
1995
38
Cyclin D1 expression is regulated by the retinoblastoma protein. (8159685)
1994
39
The retinoblastoma gene in human pituitary tumors. (7690360)
1993
40
PCR detection of Xbal polymorphism in the human Rb gene of retinoblastoma patients. (7906172)
1993
41
Cloning of a new member of the retinoblastoma gene family (pRb2) which binds to the E1A transforming domain. (8361765)
1993
42
Use of a retinoblastoma gene probe to investigate clonality in Richter's syndrome. (8231258)
1993
43
The T/E1A-binding domain of the retinoblastoma product can interact selectively with a sequence-specific DNA-binding protein. (1828394)
1991
44
An immunohistopathologic study of trilateral retinoblastoma. (3591877)
1987
45
Concurrent pineoblastoma and unilateral retinoblastoma: a forme fruste of trilateral retinoblastoma? (4047365)
1985
46
Case of the month No. 69. Bilateral retinoblastoma. (6703911)
1984
47
Trilateral retinoblastoma. Report of two cases. (6696673)
1984
48
The management of unilateral retinoblastoma without primary enucleation. (7103808)
1982
49
Trilateral retinoblastoma. (6106753)
1980
50
Familial retinoblastoma--a cautionary tale. (1018213)
1976

Genetic Variations for Retinoblastoma

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Retinoblastoma:

62 (show all 22)
id Symbol AA change Variation ID 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

About this section
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology, 51QIAGEN, 12EMD Millipore, 29KEGG
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
11.5E2F1, NDC80, RB1, RBL2, RBBP7, RBBP4
211.4RBL1, RBBP4, E2F1, RB1, RBBP8, RBL2
311.4RNF40, KDM5B, KDM5A, RBBP4, RBBP7, RBBP5
4
Hide members
11.2RBL1, RBBP4, RBBP7, RBL2, RB1
5
Hide members
11.2E2F1, RB1, RBL2, RBBP4, RBL1
6
Cell cycle Cell cycle (generic schema)
Hide members
11.2RBL2, RB1, RBL1, E2F1, RBBP4
7
Transcription P53 signaling pathway
Hide members
11.1E2F1, RB1, RBBP7, RBBP4
8
Hide members
11.1E2F1, RB1, RBBP8, RNF40
9
Hide members
11.1RBBP4, RBBP7, ARID4A, ARID4B
10
Hide members
11.1RB1, RBL2, RBL1, E2F1
11
Hide members
11.1RBL1, RBL2, E2F1, RB1
1211.1RB1, E2F1, RBL2, RBL1
1311.1RBL2, RB1, UBR4, RBL1
14
Hide members
10.9RBBP8, RBBP7, RBBP4
1510.9E2F1, RB1, RBBP8
1610.9E2F1, RBBP8, RB1
1710.9RBL1, RBBP7, RBBP4
1810.9RBBP7, E2F1, RBBP4
1910.9RB1, RBL2, RBL1
2010.9RBL2, RB1, E2F1
2110.8E2F1, RB1
2210.8RB1, E2F1

Compounds for genes affiliated with Retinoblastoma

About this section
Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Retinoblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polypropylene glycol4411.1RB1, RBL1, RBL2
2hpvs4411.1RBL1, RBL2, RB1
3dihydrofolate4411.0RB1, RBL1, E2F1
4flavopiridol44 1112.0E2F1, RB1, RBL1
5tgf beta14410.9E2F1, RBL2, RBL1
6lactacystin4410.8E2F1, RBL2, RBL1
7butyrolactone i4410.8RB1, E2F1
8lovastatin44 49 59 28 1114.6RBL1, RB1, E2F1

GO Terms for genes affiliated with Retinoblastoma

About this section
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:00635112.4KDM5B, RBBP4, RBBP7, RBL2, RB1, RBBP5
2regulation of transcription, DNA-dependentGO:00635511.6RBBP4, PRDM2, DDX1, ARID4B, RBL2, RBBP5
3mitotic cell cycleGO:00027811.6RBL1, RBBP4, RBL2, RB1, E2F1, NDC80
4regulation of lipid kinase activityGO:04355011.2RBL1, RBL2, RB1
5histone H3-K9 trimethylationGO:03612411.0ARID4B, ARID4A
6chromatin modificationGO:01656810.9RBL1, KDM5A, RBL2
7negative regulation of transcription involved in G1/S transition of mitotic cell cycleGO:07193010.9RB1, E2F1
8histone H4-K20 trimethylationGO:03477310.9ARID4A, ARID4B
9CENP-A containing nucleosome assembly at centromereGO:03408010.8RBBP7, RBBP4
10cell cycle checkpointGO:00007510.7RB1, RBBP8
11regulation of gene expression by genetic imprintingGO:00634910.5ARID4A, ARID4B

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinoblastoma

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet