RB
MCID: RTN024
MIFTS: 82

Retinoblastoma (RB) malady

Genetic diseases, Rare diseases, Eye diseases, Cancer diseases, Neuronal diseases categories
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Summaries for Retinoblastoma

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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 based summary: Retinoblastoma, also known as retinoblastomas, is related to osteosarcoma and breast cancer, and has symptoms including retinoblastomaand autosomal dominant inheritance. An important gene associated with Retinoblastoma is RB1 (retinoblastoma 1), and among its related pathways are MNAR-PELP1 and Estrogen Receptor Interaction and Inhibition of Ribosome Biogenesis by p14(ARF). The drug cyclophosphamide and the compounds butyrolactone i and dihydrofolate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and breast, and related mouse phenotypes are respiratory system and liver/biliary system.

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:65 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

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Retinoblastoma, Aliases & Descriptions:

Name: Retinoblastoma 8 9 65 19 42 21 46 10 44 48 62
Retinoblastomas 8 20 22 62
Rb 8 65 42 21
Neuroblastoma of Retina 8 62
Glioma, Retinal 65 21
Retinal Cancer 42 62
 
Retinal Tumor 42 62
Eye Cancer, Retinoblastoma 42
Neuroblastoma, Retinal 65
Glioblastoma, Retinal 65
Rb - Retinoblastoma 8
Retinoblastoma Nos 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
retinoblastoma:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology8 DOID:768
NCIt39 C7541, C6956
OMIM46 180200
MeSH34 D012175
UMLS via Orphanet63 C0035335
MESH via Orphanet35 D012175
ICD10 via Orphanet26 C69.2

Related Diseases for Retinoblastoma

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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 275)
idRelated DiseaseScoreTop Affiliating Genes
1osteosarcoma31.0E2F1, RB1, RBL1, RBL2
2breast cancer31.0RBL2, RB1, E2F1, ARID4A
3lung cancer30.9RB1, RBL2, RBL1, E2F1, PRDM2
4melanoma30.8ARID4A, RBL1, RBL2, RB1, E2F1
5papilloma30.6RBL1, RBL2, RB1, E2F1
6prostate cancer30.6E2F1, PRDM2, RB1, RBL2, RBL1
7glioblastoma30.6RBL1, E2F1, RB1, RBL2
8b-cell lymphomas30.5E2F1, PRDM2, RBL1, RB1
9cervical intraepithelial neoplasia30.4RBL1, RB1
10bilateral retinoblastoma10.9
11trilateral retinoblastoma10.8
12intraocular retinoblastoma10.8
13unilateral retinoblastoma10.8
14familial retinoblastoma10.6
15retinitis10.5
16neuronitis10.5
17prostatitis10.5
18leukemia10.5
19extraocular retinoblastoma10.4
20sarcoma10.4
21cervicitis10.4
22adenocarcinoma10.4
23thyroiditis10.4
24cellulitis10.3
25leiomyosarcoma10.3
26endotheliitis10.3
27roberts syndrome10.3
28hepatocellular carcinoma10.3
29orbital cellulitis10.3
30esophagitis10.3
31neuroblastoma10.3
32pineoblastoma10.3
33coats disease10.3
34audiogenic seizures10.2
35non-small cell lung carcinoma10.2
36neuroectodermal tumor10.2
37adenoma10.2
38myeloma10.2
39pancreatitis10.2
40pituitary tumors10.2
41lung small cell carcinoma10.2RBL1, RBL2, RB1, E2F1
42bladder carcinoma10.2
43cervical cancer10.2
44multiple myeloma10.2
45pediatric extraocular retinoblastoma10.2
46pediatric intraocular retinoblastoma10.2
47leukocoria10.2
48astrocytoma10.2
49uveal melanoma10.2
50retinoblastoma fa - friedreich ataxia10.2

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to retinoblastoma

Symptoms for Retinoblastoma

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Symptoms by clinical synopsis from OMIM:

180200

Clinical features from OMIM:

180200

Symptoms:

48
  • retinoblastoma
  • autosomal dominant inheritance

HPO human phenotypes related to Retinoblastoma:

(show all 13)
id Description Frequency HPO Source Accession
1 retinoblastoma hallmark (90%) HP:0009919
2 autosomal dominant inheritance HP:0000006
3 cleft palate HP:0000175
4 leukocoria HP:0000555
5 somatic mutation HP:0001428
6 leukemia HP:0001909
7 lymphoma HP:0002665
8 osteosarcoma HP:0002669
9 sporadic HP:0003745
10 retinal calcification HP:0007862
11 vitreous hemorrhage HP:0007902
12 retinoblastoma HP:0009919
13 ewing's sarcoma HP:0012254

Drugs & Therapeutics for Retinoblastoma

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Drug clinical trials:

Search ClinicalTrials for Retinoblastoma

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Retinoblastoma

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Genetic tests related to Retinoblastoma:

id Genetic test Affiliating Genes
1 Retinoblastoma20 22 RB1

Anatomical Context for Retinoblastoma

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MalaCards organs/tissues related to Retinoblastoma:

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

Animal Models for Retinoblastoma or affiliated genes

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Publications for Retinoblastoma

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Articles related to Retinoblastoma:

(show top 50)    (show all 2196)
idTitleAuthorsYear
1
Chromatin remodelers HELLS and UHRF1 mediate the epigenetic deregulation of genes that drive retinoblastoma tumor progression. (25338120)
2014
2
The Ba8^ regulatory subunit of protein phosphatase 2A mediates the dephosphorylation of rice retinoblastoma-related protein-1. (25398395)
2014
3
Treatment outcome of osteosarcoma after bilateral retinoblastoma: a retrospective study of eight cases. (24795337)
2014
4
Expression of CDC25A and CDC25B phosphatase proteins in human retinoblastoma and its correlation with clinicopathological parameters. (25326518)
2014
5
Trilateral retinoblastoma: a systematic review and meta-analysis. (25126964)
2014
6
Pathologic risk-based adjuvant chemotherapy for unilateral retinoblastoma following enucleation. (24577551)
2014
7
Salvage/adjuvant brachytherapy after ophthalmic artery chemosurgery for intraocular retinoblastoma. (23953635)
2013
8
White spot syndrome virus IE1 and WSV056 modulate the G1/S transition by binding to the host retinoblastoma protein. (24027329)
2013
9
Histone demethylase retinoblastoma binding protein 2 is overexpressed in hepatocellular carcinoma and negatively regulated by hsa-miR-212. (23922798)
2013
10
Post-chemoreduction cryptic optic nerve relapse in a patient with bilateral retinoblastoma. (23172878)
2013
11
Heritable retinoblastoma and accelerated aortic valve disease. (23595191)
2013
12
Extraocular retinoblastoma in Indian children: clinical, imaging and histopathological features. (23991383)
2013
13
RB1 mutations and second primary malignancies after hereditary retinoblastoma. (22205104)
2012
14
Predictors of long-term visual outcome after chemoreduction for management of intraocular retinoblastoma. (22300311)
2012
15
The TAg-RB murine retinoblastoma cell of origin has immunohistochemical features of differentiated Muller glia with progenitor properties. (21862643)
2011
16
Bilateral retinoblastoma presenting at retinopathy of prematurity screening. (20576664)
2010
17
Genome-wide changes accompanying the knockdown of Ep-CAM in retinoblastoma. (20461151)
2010
18
Relationship between vasculogenic mimicry and clinical pathological characters in retinoblastoma]. (19575963)
2009
19
Genomic differences between retinoma and retinoblastoma. (18785023)
2008
20
Retinoblastoma presenting as Coats' disease. (18049483)
2008
21
R-(+)-alpha-lipoic acid inhibits endothelial cell apoptosis and proliferation: involvement of Akt and retinoblastoma protein/E2F-1. (17566113)
2007
22
Ki-67 cell proliferation in familial and in esporadic unilateral retinoblastoma: case report. (17589712)
2007
23
Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. (16613925)
2006
24
The retinoblastoma protein in osteoblast differentiation and osteosarcoma. (17100605)
2006
25
Correlation of clinicopathological features with immunohistochemical expression of cell cycle regulatory proteins p16 and retinoblastoma: distinct association with keratinisation and differentiation in oral cavity squamous cell carcinoma. (16467168)
2006
26
Functional interaction of the retinoblastoma and Ini1/Snf5 tumor suppressors in cell growth and pituitary tumorigenesis. (16912184)
2006
27
Retinoblastoma: a proposal for a multimodal treatment concept for intraocular retinoblastoma in Austria. (16489522)
2006
28
Major histocompatibility antigens and antigen-processing molecules in retinoblastoma. (14983503)
2004
29
The study on the correlation between telomerase and histopathologic features of retinoblastoma]. (15268829)
2004
30
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. (12016586)
2002
31
Retinoblastoma family proteins induce differentiation and regulate B-myb expression in neuroblastoma cells. (11464857)
2001
32
Molecular detection of metastatic retinoblastoma cells by reverse transcription polymerase reaction for interphotoreceptor retinoid-binding protein mRNA. (11301407)
2001
33
Protein phosphatase 1alpha-mediated stimulation of apoptosis is associated with dephosphorylation of the retinoblastoma protein. (11593419)
2001
34
Chemoreduction and local ophthalmic therapy for intraocular retinoblastoma. (10623688)
2000
35
Extraocular retinoblastoma. (10881012)
2000
36
Cytosine methylation transforms an E2F site in the retinoblastoma gene promoter into a binding site for the general repressor methylcytosine-binding protein 2 (MeCP2). (10390525)
1999
37
Tissue transglutaminase-dependent posttranslational modification of the retinoblastoma gene product in promonocytic cells undergoing apoptosis. (9315663)
1997
38
Expression of retinoblastoma gene product (pRb) in mantle cell lymphomas. Correlation with cyclin D1 (PRAD1/CCND1) mRNA levels and proliferative activity. (8623927)
1996
39
Radiologic-pathologic correlation. Bilateral retinoblastoma with coexistent pinealoblastoma (trilateral retinoblastoma). (7900586)
1995
40
cDNA sequence and chromosomal localization of a novel human protein, RBQ-1 (RBBP6), that binds to the retinoblastoma gene product. (8595913)
1995
41
Immunohistochemical detection of the cyclin-dependent kinase inhibitor 2/multiple tumor suppressor gene 1 (CDKN2/MTS1) product p16INK4A in archival human solid tumors: correlation with retinoblastoma protein expression. (8521382)
1995
42
The helix-loop-helix protein Id-2 enhances cell proliferation and binds to the retinoblastoma protein. (7926730)
1994
43
Restriction fragment length polymorphism of Bam HI and Rsa I loci in the retinoblastoma gene]. (7924860)
1994
44
Trans-activation of the adenovirus E2 promoter by human papillomavirus type 16 E7 is mediated by retinoblastoma-dependent and -independent pathways. (8245866)
1993
45
Retinoblastoma. Interphotoreceptor retinoid binding protein mRNA analysis by polymerase chain reaction. (8115118)
1993
46
The retinoblastoma gene in human pituitary tumors. (7690360)
1993
47
The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity. (3657987)
1987
48
Case of the month No. 69. Bilateral retinoblastoma. (6703911)
1984
49
Trilateral retinoblastoma: bilateral retinoblastoma with pinealoblastoma. (6713268)
1984
50
Bilateral retinoblastoma: the prognosis for vision. (6882716)
1983

Variations for Retinoblastoma

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UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

64 (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

Clinvar genetic disease variations for Retinoblastoma:

6 (show all 88)
id Gene Name Type Significance SNP ID Assembly Location
1RB1NM_000321.2(RB1): c.1723C> T (p.Gln575Ter)single nucleotide variantPathogenicGRCh37Chr 13, 49027156: 49027156
2RB1NM_000321.2(RB1): c.1735C> T (p.Arg579Ter)single nucleotide variantPathogenicrs121913305GRCh37Chr 13, 49027168: 49027168
3RB1NM_000321.2(RB1): c.1738G> T (p.Glu580Ter)single nucleotide variantPathogenicGRCh37Chr 13, 49027171: 49027171
4NG_009009.1: g.154289dupAduplicationPathogenic
5RB1NM_000321.2(RB1): c.1909C> T (p.Gln637Ter)single nucleotide variantPathogenicGRCh37Chr 13, 49030434: 49030434
6RB1NM_000321.2(RB1): c.1925T> A (p.Leu642Ter)single nucleotide variantPathogenicGRCh37Chr 13, 49030450: 49030450
7RB1NM_000321.2(RB1): c.1927A> G (p.Lys643Glu)single nucleotide variantPathogenicGRCh37Chr 13, 49030452: 49030452
8RB1NM_000321.2(RB1): c.1960+5G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 49030490: 49030490
9RB1NM_000321.2(RB1): c.1961-2A> Tsingle nucleotide variantPathogenicGRCh37Chr 13, 49033822: 49033822
10RB1NM_000321.2(RB1): c.1973C> A (p.Ala658Asp)single nucleotide variantPathogenicGRCh37Chr 13, 49033836: 49033836
11RB1NM_000321.2(RB1): c.2101G> A (p.Asp701Asn)single nucleotide variantPathogenicGRCh37Chr 13, 49033964: 49033964
12RB1NM_000321.2(RB1): c.2107-1G> Csingle nucleotide variantPathogenicGRCh37Chr 13, 49037866: 49037866
13RB1NM_000321.2(RB1): c.2164A> T (p.Lys722Ter)single nucleotide variantPathogenicGRCh37Chr 13, 49037924: 49037924
14RB1NM_000321.2(RB1): c.2197C> T (p.His733Tyr)single nucleotide variantPathogenicGRCh37Chr 13, 49037957: 49037957
15RB1NM_000321.2(RB1): c.2209G> T (p.Glu737Ter)single nucleotide variantPathogenicGRCh37Chr 13, 49037969: 49037969
16NG_009009.1: g.1662319T> Asingle nucleotide variantPathogenic
17RB1NM_000321.2(RB1): c.2227_2230dupTTGA (p.Lys745Aspfs)duplicationPathogenicGRCh37Chr 13, 49039149: 49039152
18RB1NM_000321.2(RB1): c.2247T> A (p.Tyr749Ter)single nucleotide variantPathogenicGRCh37Chr 13, 49039169: 49039169
19NG_009009.1: g.166501C> Gsingle nucleotide variantPathogenic
20RB1NM_000321.2(RB1): c.2453delG (p.Gly818Valfs)deletionPathogenicGRCh37Chr 13, 49039468: 49039468
21RB1NM_000321.2(RB1): c.2490-1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 49047495: 49047495
22RB1NM_000321.2(RB1): c.2520+1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 49047527: 49047527
23RB1NM_000321.2(RB1): c.2525dupC (p.Glu843Terfs)duplicationPathogenicGRCh37Chr 13, 49050841: 49050841
24RB1NM_000321.2(RB1): c.2663+2T> Csingle nucleotide variantPathogenicGRCh37Chr 13, 49050981: 49050981
25RB1NM_000321.2(RB1): c.304_305delTG (p.Cys102Tyrfs)deletionPathogenicGRCh37Chr 13, 48916774: 48916775
26RB1NM_000321.2(RB1): c.305_306delGT (p.Cys102Tyrfs)deletionPathogenicGRCh37Chr 13, 48916775: 48916776
27RB1NM_000321.2(RB1): c.409G> T (p.Glu137Ter)single nucleotide variantPathogenicrs121913296GRCh37Chr 13, 48919244: 48919244
28RB1NM_000321.2(RB1): c.438_441delTGCT (p.Asn146Lysfs)deletionPathogenicGRCh37Chr 13, 48919273: 48919276
29RB1NM_000321.2(RB1): c.446C> G (p.Ser149Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48919281: 48919281
30RB1NM_000321.2(RB1): c.463dupT (p.Tyr155Leufs)duplicationPathogenicGRCh37Chr 13, 48919298: 48919298
31RB1NM_000321.2(RB1): c.508G> T (p.Glu170Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48921968: 48921968
32NG_009009.1: g.5168-?_5303+?(2)undetermined variantPathogenic
33RB1NM_000321.2(RB1): c.72_74delGCC (p.Pro29del)deletionPathogenicGRCh37Chr 13, 48878120: 48878122
34RB1NM_000321.2(RB1): c.103C> T (p.Gln35Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48878151: 48878151
35NG_009009.1: g.5279_5281delGCCInsCTinsertionPathogenic
36RB1NM_000321.2(RB1): c.763C> T (p.Arg255Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48936995: 48936995
37RB1NM_000321.2(RB1): c.795delA (p.Lys265Asnfs)deletionPathogenicGRCh37Chr 13, 48937027: 48937027
38RB1NM_000321.2(RB1): c.884dupA (p.Asn295Lysfs)duplicationPathogenicGRCh37Chr 13, 48939052: 48939052
39RB1NM_000321.2(RB1): c.937G> T (p.Glu313Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48939105: 48939105
40RB1NM_000321.2(RB1): c.958C> T (p.Arg320Ter)single nucleotide variantPathogenicrs121913300GRCh37Chr 13, 48941648: 48941648
41RB1NM_000321.2(RB1): c.1021A> T (p.Lys341Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48941711: 48941711
42RB1NM_000321.2(RB1): c.1024delA (p.Thr342Leufs)deletionPathogenicGRCh37Chr 13, 48941714: 48941714
43RB1NM_000321.2(RB1): c.1049+1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 48941740: 48941740
44RB1NM_000321.2(RB1): c.1060_1061delCA (p.Gln354Glufs)deletionPathogenicGRCh37Chr 13, 48942673: 48942674
45RB1NM_000321.2(RB1): c.1147dupC (p.Gln383Profs)duplicationPathogenicGRCh37Chr 13, 48947560: 48947560
46RB1NM_000321.2(RB1): c.1166T> A (p.Leu389Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48947579: 48947579
47RB1NM_000321.2(RB1): c.1215+1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 48947629: 48947629
48RB1NM_000321.2(RB1): c.1216-1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 48951053: 48951053
49RB1NM_000321.2(RB1): c.1332+1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 48951171: 48951171
50RB1NM_000321.2(RB1): c.1332+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 13, 48951171: 48951171
51RB1NM_000321.2(RB1): c.1346G> T (p.Gly449Val)single nucleotide variantPathogenicGRCh37Chr 13, 48953743: 48953743
52RB1NM_000321.2(RB1): c.1363C> T (p.Arg455Ter)single nucleotide variantPathogenicrs121913302GRCh37Chr 13, 48953760: 48953760
53RB1NM_000321.2(RB1): c.1456_1457delTT (p.Leu486Ilefs)deletionPathogenicGRCh37Chr 13, 48954335: 48954336
54RB1NM_000321.2(RB1): c.1472T> C (p.Leu491Pro)single nucleotide variantPathogenicGRCh37Chr 13, 48954351: 48954351
55RB1NM_000321.2(RB1): c.1654C> T (p.Arg552Ter)single nucleotide variantPathogenicrs121913303GRCh37Chr 13, 48955538: 48955538
56RB1NM_000321.2(RB1): c.1688G> A (p.Trp563Ter)single nucleotide variantPathogenicGRCh37Chr 13, 48955572: 48955572
57RB1NM_000321.2(RB1): c.1695+1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 48955580: 48955580
58RB1NM_000321.2(RB1): c.217delA (p.Arg73Glufs)deletionPathogenicGRCh37Chr 13, 48881495: 48881495
59RB1NM_000321.2(RB1): c.219_220delAG (p.Arg73Serfs)deletionPathogenicGRCh37Chr 13, 48881497: 48881498
60RB1NM_000321.2(RB1): c.227_228dupTA (p.Thr77Terfs)duplicationPathogenicGRCh37Chr 13, 48881505: 48881506
61RB1NM_000321.2(RB1): c.2520+1delGdeletionPathogenicGRCh37Chr 13, 49047527: 49047527
62RB1NM_000321.2(RB1): c.1960+2T> Csingle nucleotide variantPathogenicGRCh37Chr 13, 49030487: 49030487
63RB1NM_000321.2(RB1): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs3092891GRCh37Chr 13, 48953730: 48953730
64RB1NM_000321.2(RB1): c.1700C> T (p.Ser567Leu)single nucleotide variantPathogenicrs137853292GRCh37Chr 13, 49027133: 49027133
65RB1NM_000321.2(RB1): c.2359C> T (p.Arg787Ter)single nucleotide variantPathogenicrs137853293GRCh37Chr 13, 49039374: 49039374
66RB1NM_000321.2(RB1): c.2244delG (p.Glu748Aspfs)deletionPathogenicGRCh37Chr 13, 49039166: 49039166
67RB1NM_000321.2(RB1): c.1049+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 13, 48941740: 48941740
68RB1NM_000321.2(RB1): c.1072C> T (p.Arg358Ter)single nucleotide variantPathogenicrs121913301GRCh37Chr 13, 48942685: 48942685
69RB1RB1, 5-BP DEL, EX8deletionPathogenic
70RB1NM_000321.2(RB1): c.979_1033dup55 (p.Thr345Lysfs)duplicationPathogenicGRCh37Chr 13, 48941669: 48941723
71RB1NM_000321.2(RB1): c.1760_1769delAATCTGCTTG (p.Glu587Valfs)deletionPathogenicGRCh37Chr 13, 49027193: 49027202
72RB1NM_000321.2(RB1): c.1949_1957delTTTATAAAA (p.Phe650Ter)deletionPathogenicGRCh37Chr 13, 49030474: 49030482
73RB1NM_000321.2(RB1): c.2212-1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 49039133: 49039133
74RB1NM_000321.2(RB1): c.-189G> Tsingle nucleotide variantPathogenicrs387906520GRCh37Chr 13, 48877860: 48877860
75RB1NM_000321.2(RB1): c.-198G> Asingle nucleotide variantPathogenicrs387906521GRCh37Chr 13, 48877851: 48877851
76RB1NM_000321.2(RB1): c.1981C> T (p.Arg661Trp)single nucleotide variantPathogenicrs137853294GRCh37Chr 13, 49033844: 49033844
77RB1RB1, GLN675TERsingle nucleotide variantPathogenic
78RB1NM_000321.2(RB1): c.2211G> A (p.Glu737=)single nucleotide variantPathogenicGRCh37Chr 13, 49037971: 49037971
79RB1NM_000321.2(RB1): c.1666C> T (p.Arg556Ter)single nucleotide variantPathogenicrs121913304GRCh37Chr 13, 48955550: 48955550
80RB1NM_000321.2(RB1): c.1439_1441delACA (p.Asn480del)deletionPathogenicGRCh37Chr 13, 48954318: 48954320
81RB1NM_000321.2(RB1): c.2134T> C (p.Cys712Arg)single nucleotide variantPathogenicrs137853296GRCh37Chr 13, 49037894: 49037894
82RB1NM_000321.2(RB1): c.607+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 13, 48923160: 48923160
83RB1NM_000321.2(RB1): c.1818T> A (p.Tyr606Ter)single nucleotide variantPathogenicrs137853297GRCh37Chr 13, 49030343: 49030343
84RB1NM_000321.2(RB1): c.43_65dup23 (p.Pro23Leufs)duplicationPathogenicGRCh37Chr 13, 48878091: 48878113
85RB1NM_000321.2(RB1): c.2490-1398A> Gsingle nucleotide variantPathogenicGRCh37Chr 13, 49046098: 49046098
86RB1NM_000321.2(RB1): c.1421+12_1421+32deldeletionPathogenicGRCh37Chr 13, 48954232: 48954252
87RB1NM_000321.2(RB1): c.1907delT (p.Phe636Serfs)deletionPathogenicGRCh37Chr 13, 49030432: 49030432
88RB1NM_000321.2(RB1): c.1399C> T (p.Arg467Ter)single nucleotide variantPathogenicrs398123331GRCh37Chr 13, 48954198: 48954198

Expression for genes affiliated with Retinoblastoma

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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

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Pathways related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1RB1, E2F1
210.1RB1, E2F1
310.0E2F1, RB1, RBBP8
4
Show member pathways
10.0E2F1, RB1, RBBP8
5
Show member pathways
9.9RB1, RBL1, E2F1
69.9RBBP4, RBBP7, RBL1
79.9RBBP7, E2F1, RBBP4
89.9RBL1, RBL2, RB1
99.9RBL1, RBL2, RB1
109.8E2F1, RB1, RBL2
119.7E2F1, RB1, RBBP4, RBBP7
12
Show member pathways
9.7RB1, E2F1, RBBP7, RBBP4
139.7E2F1, RBBP7, RB1, RBBP4
14
Show member pathways
9.6RB1, RBBP8, RNF40, E2F1
15
Show member pathways
Cell cycle37
9.6E2F1, RB1, RBL2, RBL1
16
Show member pathways
9.6RBL1, E2F1, RB1, RBL2
179.6E2F1, RB1, RBL2, RBL1
18
Show member pathways
Cell cycle ESR1 regulation of G1 S transition60
Immune response MIF JAB1 signaling60
Cell cycle Cell cycle generic schema 60
9.6E2F1, RB1, RBL1, RBL2
199.6UBR4, RB1, RBL2, RBL1
20
Show member pathways
Development Notch Signaling Pathway60
Transcription Sin3 and NuRD in transcription regulation60
9.6ARID4A, ARID4B, RBBP4, RBBP7
219.6RBL2, RBBP4, RBL1, E2F1
22
Show member pathways
9.5RBL1, RBBP7, RB1, RBL2, RBBP4
23
Show member pathways
9.4RBL1, E2F1, RB1, RBL2, RBBP4
249.3RBBP4, RBBP7, RBBP5, KDM5A, KDM5B, RNF40
259.3E2F1, RB1, RBL2, RBL1, RBBP8, RBBP4
26
Show member pathways
8.9NDC80, RB1, RBL1, RBBP7, E2F1, RBL2

Compounds for genes affiliated with Retinoblastoma

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Compounds related to Retinoblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1butyrolactone i4410.2E2F1, RB1
2dihydrofolate4410.1E2F1, RB1, RBL1
3polypropylene glycol4410.1RB1, RBL2, RBL1
4flavopiridol44 1111.1RBL1, RB1, E2F1
5hpvs4410.1RB1, RBL2, RBL1
6lovastatin44 50 61 28 1113.9RB1, RBL1, E2F1
75fluorouracil449.9RBL1, RB1, E2F1
8lactacystin449.9RBL1, RBL2, E2F1
9tgf beta1449.7E2F1, RBL2, RBL1
10leucine449.5RBL1, RB1, PRDM2, E2F1

GO Terms for genes affiliated with Retinoblastoma

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Cellular components related to Retinoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rb-E2F complexGO:03518910.1RB1, E2F1
2NuRD complexGO:01658110.1RBBP7, RBBP4
3ESC/E(Z) complexGO:0350989.8RBBP4, RBBP7
4nucleoplasmGO:0056549.2E2F1, RBBP4, RBL1, RBL2, RB1, RBBP7
5nucleolusGO:0057308.7RBL2, RBL1, RBBP8, RBBP6, RBBP5, UBR4
6nucleusGO:0056346.7ARID4A, DDX1, KDM5A, KDM5B, E2F1, RNF40

Biological processes related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription involved in G1/S transition of mitotic cell cycleGO:07193010.4E2F1, RB1
2cell cycle checkpointGO:00007510.3RB1, RBBP8
3histone H3-K9 trimethylationGO:03612410.2ARID4A, ARID4B
4histone H4-K20 trimethylationGO:03477310.2ARID4A, ARID4B
5regulation of lipid kinase activityGO:04355010.1RB1, RBL2, RBL1
6regulation of gene expression by genetic imprintingGO:00634910.0ARID4B, ARID4A
7regulation of cell cycleGO:05172610.0RBL2, RBL1, RBBP4
8chromatin modificationGO:01656810.0RBL1, RBL2, KDM5A
9G1/S transition of mitotic cell cycleGO:00008210.0E2F1, RB1, RBBP8
10CENP-A containing nucleosome assembly at centromereGO:0340809.8RBBP7, RBBP4
11negative regulation of transcription from RNA polymerase II promoterGO:0001229.7RBBP8, E2F1, RBL1, RBBP7
12negative regulation of transcription, DNA-templatedGO:0458929.6KDM5B, RB1, ARID4A, E2F1
13regulation of transcription, DNA-templatedGO:0063559.4DDX1, PRDM2, RBBP5, RBBP4, ARID4B, E2F1
14mitotic cell cycleGO:0002789.4RBBP4, E2F1, RB1, NDC80, RBL1, RBL2
15transcription, DNA-templatedGO:0063518.6RBBP5, E2F1, PRDM2, ARID4B, RBBP4, RBL1

Molecular functions related to Retinoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1core promoter bindingGO:00104710.1RB1, E2F1
2oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donorsGO:0167069.8KDM5B, KDM5A
3sequence-specific DNA binding transcription factor activityGO:0037009.4KDM5A, KDM5B, E2F1, PRDM2, RB1, ARID4A
4zinc ion bindingGO:0082709.1KDM5A, KDM5B, RNF40, PRDM2, UBR4, RBBP6
5DNA bindingGO:0036778.6DDX1, KDM5A, KDM5B, E2F1, PRDM2, RB1
6protein bindingGO:0055157.3ARID4B, DDX1, KDM5B, E2F1, RNF40, UBR4

Products for genes affiliated with Retinoblastoma

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  • Antibodies
  • Proteins
  • Lysates

Sources for Retinoblastoma

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet