RB
MCID: RTN024
MIFTS: 81

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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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 breast cancer and osteosarcoma, and has symptoms including autosomal dominant inheritanceand retinoblastoma. 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 retina, eye 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:47 180200

GeneReviews summary for retinoblastoma

Aliases & Classifications for Retinoblastoma

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8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
retinoblastoma:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

retinoblastoma 8 9 65 19 43 21 47 10 45 49 62
rb 8 65 43 21
retinoblastomas 8 20 22
glioma, retinal 65 21
malignant neoplasm of retina 62
eye cancer, retinoblastoma 43
neuroblastoma of retina 8
neuroblastoma, retinal 65
glioblastoma, retinal 65
papillorenal syndrome 62
rb - retinoblastoma 8
retinoblastoma nos 8
retinal neoplasms 62
retinal cancer 43
retinal tumor 43


External Ids:

Disease Ontology8 DOID:768
NCIt40 C7541, C6956
OMIM47 180200
MeSH35 D012175
ICD10 via Orphanet26 C69.2
SNOMED-CT via Orphanet59 19906005, 370967009
UMLS via Orphanet63 C0035335
MESH via Orphanet36 D012175

Related Diseases for Retinoblastoma

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17GeneCards, 18GeneDecks
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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 265)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.9ARID4A, RBL2, RB1, E2F1
2osteosarcoma30.8E2F1, RB1, RBL2, RBL1
3lung cancer30.8RBL1, RBL2, RB1, PRDM2, E2F1
4melanoma30.7E2F1, RB1, RBL2, RBL1, ARID4A
5prostate cancer30.5E2F1, PRDM2, RB1, RBL2, RBL1
6papilloma30.3E2F1, RB1, RBL2, RBL1
7b-cell lymphomas30.2E2F1, PRDM2, RB1, RBL1
8cervical intraepithelial neoplasia30.2RBL1, RB1
9bilateral retinoblastoma10.9
10trilateral retinoblastoma10.8
11intraocular retinoblastoma10.8
12unilateral retinoblastoma10.7
13familial retinoblastoma10.6
14retinitis10.5
15neuronitis10.5
16prostatitis10.5
17leukemia10.5
18sarcoma10.5
19extraocular retinoblastoma10.4
20cervicitis10.4
21adenocarcinoma10.4
22thyroiditis10.4
23cellulitis10.3
24orbital cellulitis10.3
25leiomyosarcoma10.3
26endotheliitis10.3
27roberts syndrome10.3
28esophagitis10.3
29neuroblastoma10.3
30hepatocellular carcinoma10.3
31pineoblastoma10.3
32coats disease10.2
33audiogenic seizures10.2
34adenoma10.2
35myeloma10.2
36non-small cell lung carcinoma10.2
37pancreatitis10.2
38pituitary tumors10.2
39pediatric extraocular retinoblastoma10.2
40leukocoria10.2
41pediatric intraocular retinoblastoma10.2
42astrocytoma10.2
43bladder carcinoma10.2
44cervical cancer10.2
45multiple myeloma10.2
46primitive neuroectodermal tumor10.2
47retinoblastoma fa - friedreich ataxia10.2
48hypoxia10.2
49microphthalmia10.1
50nasopharyngitis10.1

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to retinoblastoma

Symptoms for Retinoblastoma

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

180200

Clinical features from OMIM:

180200

Symptoms:

49
  • autosomal dominant inheritance
  • retinoblastoma

Drugs & Therapeutics for Retinoblastoma

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Retinoblastoma

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Retinoblastoma

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Retinoblastoma:

33
Retina, Eye, Breast, Lung, Prostate, Pituitary, Thyroid, Endothelial, Bone, T cells, Adipocyte, Pineal, B cells, Smooth muscle, Colon, Liver, Brain, Monocytes, Testes, Skin, Myeloid, Pancreas, Spinal cord, Nk cells, Cervix, Testis, Placenta, Bone marrow, Salivary gland, Cardiac myocytes

Animal Models for Retinoblastoma or affiliated genes

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37MGI
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Publications for Retinoblastoma

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52PubMed
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Articles related to Retinoblastoma:

(show top 50)    (show all 2151)
idTitleAuthorsYear
1
Salvage/adjuvant brachytherapy after ophthalmic artery chemosurgery for intraocular retinoblastoma. (23953635)
2013
2
White spot syndrome virus IE1 and WSV056 modulate the G1/S transition by binding to the host retinoblastoma protein. (24027329)
2013
3
Post-chemoreduction cryptic optic nerve relapse in a patient with bilateral retinoblastoma. (23172878)
2013
4
Heritable retinoblastoma and accelerated aortic valve disease. (23595191)
2013
5
Extraocular retinoblastoma in Indian children: clinical, imaging and histopathological features. (23991383)
2013
6
Bilateral retinoblastoma in early infancy. (23584660)
2013
7
RB1 mutations and second primary malignancies after hereditary retinoblastoma. (22205104)
2012
8
Predictors of long-term visual outcome after chemoreduction for management of intraocular retinoblastoma. (22300311)
2012
9
Correlation between clinical features, magnetic resonance imaging, and histopathologic findings in retinoblastoma: a prospective study. (22218144)
2012
10
The TAg-RB murine retinoblastoma cell of origin has immunohistochemical features of differentiated Muller glia with progenitor properties. (21862643)
2011
11
Bilateral retinoblastoma presenting at retinopathy of prematurity screening. (20576664)
2010
12
Genome-wide changes accompanying the knockdown of Ep-CAM in retinoblastoma. (20461151)
2010
13
Relationship between vasculogenic mimicry and clinical pathological characters in retinoblastoma]. (19575963)
2009
14
Genomic differences between retinoma and retinoblastoma. (18785023)
2008
15
Retinoblastoma presenting as Coats' disease. (18049483)
2008
16
R-(+)-alpha-lipoic acid inhibits endothelial cell apoptosis and proliferation: involvement of Akt and retinoblastoma protein/E2F-1. (17566113)
2007
17
Ki-67 cell proliferation in familial and in esporadic unilateral retinoblastoma: case report. (17589712)
2007
18
Retinoblastoma protein prevents staurosporine-induced cell death in a retinoblastoma-defective human glioma cell line. (17496430)
2007
19
Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. (16613925)
2006
20
The retinoblastoma protein in osteoblast differentiation and osteosarcoma. (17100605)
2006
21
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
22
Functional interaction of the retinoblastoma and Ini1/Snf5 tumor suppressors in cell growth and pituitary tumorigenesis. (16912184)
2006
23
Retinoblastoma: a proposal for a multimodal treatment concept for intraocular retinoblastoma in Austria. (16489522)
2006
24
Distinct action of the retinoblastoma pathway on the DNA replication machinery defines specific roles for cyclin-dependent kinase complexes in prereplication complex assembly and S-phase progression. (16908528)
2006
25
Major histocompatibility antigens and antigen-processing molecules in retinoblastoma. (14983503)
2004
26
The study on the correlation between telomerase and histopathologic features of retinoblastoma]. (15268829)
2004
27
Retinoblastoma presenting as orbital cellulitis: report of four cases with a review of the literature. (15559956)
2004
28
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. (12016586)
2002
29
Retinoblastoma family proteins induce differentiation and regulate B-myb expression in neuroblastoma cells. (11464857)
2001
30
Molecular detection of metastatic retinoblastoma cells by reverse transcription polymerase reaction for interphotoreceptor retinoid-binding protein mRNA. (11301407)
2001
31
Protein phosphatase 1alpha-mediated stimulation of apoptosis is associated with dephosphorylation of the retinoblastoma protein. (11593419)
2001
32
Retinoblastoma protein complexes with C/EBP proteins and activates C/EBP-mediated transcription. (11596110)
2001
33
Chemoreduction and local ophthalmic therapy for intraocular retinoblastoma. (10623688)
2000
34
Extraocular retinoblastoma. (10881012)
2000
35
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
36
Tissue transglutaminase-dependent posttranslational modification of the retinoblastoma gene product in promonocytic cells undergoing apoptosis. (9315663)
1997
37
Expression of retinoblastoma gene product (pRb) in mantle cell lymphomas. Correlation with cyclin D1 (PRAD1/CCND1) mRNA levels and proliferative activity. (8623927)
1996
38
Radiologic-pathologic correlation. Bilateral retinoblastoma with coexistent pinealoblastoma (trilateral retinoblastoma). (7900586)
1995
39
cDNA sequence and chromosomal localization of a novel human protein, RBQ-1 (RBBP6), that binds to the retinoblastoma gene product. (8595913)
1995
40
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
41
The helix-loop-helix protein Id-2 enhances cell proliferation and binds to the retinoblastoma protein. (7926730)
1994
42
Restriction fragment length polymorphism of Bam HI and Rsa I loci in the retinoblastoma gene]. (7924860)
1994
43
The retinoblastoma gene is involved in malignant progression of astrocytomas. (7979217)
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1 (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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Sources:
2BioGPS, 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

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Sources:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 5Cell Signaling Technology, 30KEGG
See all sources

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 cycle38
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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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Retinoblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1butyrolactone i4510.2RB1, E2F1
2dihydrofolate4510.1E2F1, RB1, RBL1
3polypropylene glycol4510.1RBL1, RBL2, RB1
4flavopiridol45 1111.1RBL1, RB1, E2F1
5hpvs4510.1RBL1, RBL2, RB1
6lovastatin45 51 61 29 1113.9RBL1, RB1, E2F1
75fluorouracil459.9RBL1, RB1, E2F1
8lactacystin459.9E2F1, RBL2, RBL1
9tgf beta1459.7RBL1, RBL2, E2F1
10leucine459.5E2F1, PRDM2, RB1, RBL1

GO Terms for genes affiliated with Retinoblastoma

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Sources:
16Gene Ontology
See all sources

Cellular components related to Retinoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rb-E2F complexGO:03518910.1RB1, E2F1
2NuRD complexGO:01658110.1RBBP4, RBBP7
3ESC/E(Z) complexGO:0350989.8RBBP4, RBBP7
4nucleoplasmGO:0056549.2E2F1, RBBP7, RB1, RBL2, RBL1, RBBP4
5nucleolusGO:0057308.7DDX1, KDM5A, UBR4, RBBP5, RBBP6, RBBP9
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:07193010.4RB1, E2F1
2cell cycle checkpointGO:00007510.3RBBP8, RB1
3histone H3-K9 trimethylationGO:03612410.2ARID4B, ARID4A
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:00008210.0RBBP8, RB1, E2F1
10CENP-A containing nucleosome assembly at centromereGO:0340809.8RBBP4, RBBP7
11negative regulation of transcription from RNA polymerase II promoterGO:0001229.7RBBP8, RBL1, RBBP7, E2F1
12negative regulation of transcription, DNA-templatedGO:0458929.6KDM5B, E2F1, RB1, ARID4A
13regulation of transcription, DNA-templatedGO:0063559.4DDX1, E2F1, PRDM2, RBBP5, RBBP4, ARID4B
14mitotic cell cycleGO:0002789.4NDC80, RBBP4, RBL1, RBL2, RB1, E2F1
15transcription, DNA-templatedGO:0063518.6ARID4B, DDX1, KDM5B, E2F1, PRDM2, RBBP5

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
  • Antibodies

Sources for Retinoblastoma

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet