MCID: FML008
MIFTS: 39

Familial Retinoblastoma

Categories: Cancer diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Retinoblastoma

MalaCards integrated aliases for Familial Retinoblastoma:

Name: Familial Retinoblastoma 12 15 73
Hereditary Retinoblastoma 12 59 55
Retinoblastoma 44 73

Characteristics:

Orphanet epidemiological data:

59
hereditary retinoblastoma
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:4648
MeSH 44 D012175
NCIt 50 C8495
Orphanet 59 ORPHA357027
ICD10 via Orphanet 34 C69.2
UMLS via Orphanet 74 C0751483

Summaries for Familial Retinoblastoma

MalaCards based summary : Familial Retinoblastoma, also known as hereditary retinoblastoma, is related to bilateral retinoblastoma and non-hereditary retinoblastoma. An important gene associated with Familial Retinoblastoma is RB1 (RB Transcriptional Corepressor 1). The drugs Ibrance and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and retina, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Familial Retinoblastoma

Diseases in the Retinoblastoma family:

Familial Retinoblastoma

Diseases related to Familial Retinoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 271)
# Related Disease Score Top Affiliating Genes
1 bilateral retinoblastoma 33.7 MYCN RB1
2 non-hereditary retinoblastoma 33.2 MYCN RB1
3 small cell cancer of the lung 29.4 MYCN RB1
4 intraocular retinoblastoma 12.5
5 unilateral retinoblastoma 12.4
6 extraocular retinoblastoma 12.4
7 pediatric intraocular retinoblastoma 12.3
8 pediatric extraocular retinoblastoma 12.3
9 imprinting gene related to retinoblastoma 12.0
10 chromosome 13q14 deletion syndrome 11.3
11 ocular cancer 11.3
12 retinal cancer 11.3
13 norrie disease 11.0
14 autism 3 11.0
15 embryoma 11.0
16 retinal disease 11.0
17 retinoblastoma 10.5
18 melanoma 10.3
19 squamous cell carcinoma 10.3
20 breast cancer 10.3
21 leukemia 10.3
22 leiomyosarcoma 10.3
23 adenocarcinoma 10.3
24 prostate cancer 10.2
25 lymphoma 10.2
26 hypoxia 10.2
27 neuroblastoma 10.2
28 cellulitis 10.2
29 orbital cellulitis 10.2
30 hepatocellular carcinoma 10.2
31 melanoma, uveal 10.1
32 cataract 10.1
33 osteogenic sarcoma 10.1
34 pineoblastoma 10.1
35 bladder cancer 10.1
36 lymphocytic leukemia 10.1
37 blind hypotensive eye 10.1
38 coats disease 10.1
39 colorectal cancer 10.0
40 gastric cancer 10.0
41 cervical cancer 10.0
42 leukemia, acute lymphoblastic 10.0
43 glioma 10.0
44 pituitary tumors 10.0
45 nervous system cancer 10.0 MYCN RB1
46 retinal detachment 10.0
47 strabismus 10.0
48 myeloma, multiple 10.0
49 wilson disease 10.0
50 microphthalmia 10.0

Graphical network of the top 20 diseases related to Familial Retinoblastoma:



Diseases related to Familial Retinoblastoma

Symptoms & Phenotypes for Familial Retinoblastoma

GenomeRNAi Phenotypes related to Familial Retinoblastoma according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 RB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.55 MDM4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.55 MYCN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.55 RB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.55 MYCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.55 RB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.55 MDM4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.55 RB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.55 MDM4 MYCN RB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.55 MDM4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.55 RB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 RB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.55 MDM4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.55 RB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 RB1

MGI Mouse Phenotypes related to Familial Retinoblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.83 MDM4 MYCN NDUFS3 PTH1R RB1
2 growth/size/body region MP:0005378 9.8 APRT MDM4 MYCN NDUFS3 PTH1R RB1
3 hematopoietic system MP:0005397 9.73 APRT MDM4 MYCN NDUFS3 PTH1R RB1
4 craniofacial MP:0005382 9.71 MDM4 MYCN PTH1R RB1
5 digestive/alimentary MP:0005381 9.67 MDM4 MYCN PTH1R RB1
6 limbs/digits/tail MP:0005371 9.55 ASPN MDM4 MYCN PTH1R RB1
7 liver/biliary system MP:0005370 9.26 MDM4 MYCN PTH1R RB1
8 renal/urinary system MP:0005367 8.92 APRT MDM4 MYCN RB1

Drugs & Therapeutics for Familial Retinoblastoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Ibrance 18 49 PALBOCICLIB Pfizer February 2015

Drugs for Familial Retinoblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI Screening of Second Primary Cancer Occurring Within Radiation Fields After Treatment by External Beam Radiation Therapy for Hereditary Retinoblastoma (DepiSCARRH) Recruiting NCT03026998 Not Applicable
2 SPT Screening in Irradiated Hereditary Retinoblastoma Survivors Recruiting NCT02329002
3 Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma Active, not recruiting NCT02193724

Search NIH Clinical Center for Familial Retinoblastoma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: retinoblastoma

Genetic Tests for Familial Retinoblastoma

Anatomical Context for Familial Retinoblastoma

MalaCards organs/tissues related to Familial Retinoblastoma:

41
Eye, Lung, Retina, Brain, Thyroid, T Cells, Myeloid

Publications for Familial Retinoblastoma

Articles related to Familial Retinoblastoma:

(show top 50) (show all 134)
# Title Authors Year
1
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy. ( 30031154 )
2018
2
Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma. ( 29151167 )
2018
3
A polymorphism in mir-34b/c as a potential biomarker for early onset of hereditary retinoblastoma. ( 28106538 )
2017
4
Psychosocial determinants for treatment decisions in familial retinoblastoma. ( 28085520 )
2017
5
Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome. ( 28348883 )
2017
6
Erratum to: "Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma". ( 28331555 )
2017
7
Pineal cysts-A benign association with familial retinoblastoma. ( 27689687 )
2016
8
Knowledge of genetics in familial retinoblastoma. ( 27427836 )
2016
9
Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene. ( 26763876 )
2016
10
Prenatal versus Postnatal Screening for Familial Retinoblastoma. ( 27712844 )
2016
11
"Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma". ( 26753011 )
2016
12
Malignant melanoma of the nasal septum, a rare tumor, occurring in a 54-year-old patient after hereditary retinoblastoma treatment. ( 26929670 )
2016
13
Simultaneous Low- and High-Grade Primary Leiomyosarcomas in Two Separate Organs in a Thirty-Year Survivor of Hereditary Retinoblastoma. ( 26843997 )
2015
14
Risk of subsequent malignant neoplasms in long-term hereditary retinoblastoma survivors after chemotherapy and radiotherapy. ( 25185089 )
2014
15
Second cranio-facial malignancies in hereditary retinoblastoma survivors previously treated with radiation therapy: clinic and radiologic characteristics and survival outcomes. ( 23415887 )
2013
16
Whole-body magnetic resonance imaging (WB-MRI) as surveillance for subsequent malignancies in survivors of hereditary retinoblastoma: A pilot study. ( 24402721 )
2013
17
Radical radiotherapy for radiation-induced malignancy in the context of Hereditary retinoblastoma. ( 23357193 )
2013
18
A 10-year experience of outcome in chemotherapy-treated hereditary retinoblastoma. ( 24119165 )
2013
19
Recurring multifocal leiomyosarcoma of the urinary bladder 22 years after therapy for bilateral (hereditary) retinoblastoma: a case report and review of the literature. ( 22716012 )
2012
20
Sarcomas in hereditary retinoblastoma. ( 23036192 )
2012
21
Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma. ( 22027510 )
2012
22
Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. ( 22180099 )
2012
23
RB1 mutations and second primary malignancies after hereditary retinoblastoma. ( 22205104 )
2012
24
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study. ( 21921957 )
2011
25
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma. ( 21814224 )
2011
26
Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up? ( 21538077 )
2011
27
Cutaneous leiomyosarcoma and intramuscular myxoid liposarcoma in a patient with hereditary retinoblastoma. ( 20534095 )
2010
28
G2-phase chromosomal radiosensitivity of primary fibroblasts from hereditary retinoblastoma family members and some apparently normal controls. ( 20041760 )
2010
29
Familial retinoblastoma in developing countries. ( 19434730 )
2009
30
Familial retinoblastoma with unilateral and unifocal involvement in 2 families. ( 18779498 )
2008
31
Radiation sensitivity of primary fibroblasts from hereditary retinoblastoma family members and some apparently normal controls: colony formation ability during continuous low-dose-rate gamma irradiation. ( 18439048 )
2008
32
Hereditary retinoblastoma transmitted by maternal germline mosaicism. ( 18661485 )
2008
33
Intramucosal leiomyosarcoma of the stomach following hereditary retinoblastoma in childhood - a case report and review of the literature. ( 19077296 )
2008
34
Osteosarcoma as a second neoplasm after chemotherapeutic treatment of hereditary retinoblastoma: a case report. ( 19088959 )
2008
35
Genotype-phenotype correlations in hereditary familial retinoblastoma. ( 17096365 )
2007
36
Risk of soft tissue sarcomas by individual subtype in survivors of hereditary retinoblastoma. ( 17202110 )
2007
37
The accidental cancer geneticist: hilário de gouvêa and hereditary retinoblastoma. ( 17592249 )
2007
38
Incidence of new tumor formation in patients with hereditary retinoblastoma treated with primary systemic chemotherapy: is there a preventive effect? ( 17628684 )
2007
39
Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. ( 16613925 )
2006
40
De novo intraocular retinoblastoma development after chemotherapy in patients with hereditary retinoblastoma. ( 16603962 )
2006
41
An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma. ( 18521424 )
2005
42
Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient. ( 15139006 )
2004
43
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. ( 12569181 )
2003
44
Sarcoma and familial retinoblastoma. ( 14516425 )
2003
45
Simultaneous presentation of retinopathy of prematurity and bilateral familial retinoblastoma in a premature infant. ( 12691233 )
2003
46
Thermochemotherapy in hereditary retinoblastoma. ( 12488270 )
2003
47
Soft tissue, pelvic, and urinary bladder leiomyosarcoma as second neoplasm following hereditary retinoblastoma. ( 12610106 )
2003
48
Thermochemotherapy in hereditary retinoblastoma. ( 14609861 )
2003
49
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
50
Unexpected sensitivity to radiation of fibroblasts from unaffected parents of children with hereditary retinoblastoma. ( 12115515 )
2002

Variations for Familial Retinoblastoma

Expression for Familial Retinoblastoma

Search GEO for disease gene expression data for Familial Retinoblastoma.

Pathways for Familial Retinoblastoma

GO Terms for Familial Retinoblastoma

Cellular components related to Familial Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.62 MYCN RB1

Biological processes related to Familial Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.13 MDM4 PTH1R RB1
2 bone mineralization GO:0030282 8.62 ASPN PTH1R

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

# Name GO ID Score Top Affiliating Genes
1 kinase binding GO:0019900 8.62 MYCN RB1

Sources for Familial Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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