MCID: FML008
MIFTS: 34

Familial Retinoblastoma

Categories: Eye diseases, Rare diseases, Neuronal diseases, Cancer diseases, Genetic 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
UMLS 73 C0751483

Summaries for Familial Retinoblastoma

MalaCards based summary : Familial Retinoblastoma, also known as hereditary retinoblastoma, is related to non-hereditary retinoblastoma and 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 breast, eye 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 all 13)
# Related Disease Score Top Affiliating Genes
1 non-hereditary retinoblastoma 33.3 MYCN RB1
2 retinoblastoma 10.3
3 bilateral retinoblastoma 10.0 MYCN RB1
4 nervous system cancer 9.7 MYCN RB1
5 retinitis 9.7
6 exudative vitreoretinopathy 1 9.6
7 small cell cancer of the lung 9.6
8 ataxia-telangiectasia 9.6
9 lung cancer 9.6
10 aging 9.6
11 sarcoma 9.6
12 ewing's family of tumors 9.6
13 pineal cyst 9.6

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 RB1 MDM4 MYCN
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 MYCN NDUFS3 PTH1R APRT RB1 MDM4
3 hematopoietic system MP:0005397 9.73 MYCN NDUFS3 PTH1R APRT RB1 MDM4
4 craniofacial MP:0005382 9.71 MYCN PTH1R RB1 MDM4
5 digestive/alimentary MP:0005381 9.67 MDM4 MYCN PTH1R RB1
6 limbs/digits/tail MP:0005371 9.55 MYCN PTH1R RB1 ASPN MDM4
7 liver/biliary system MP:0005370 9.26 MYCN PTH1R RB1 MDM4
8 renal/urinary system MP:0005367 8.92 MYCN APRT RB1 MDM4

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
Breast, Eye, Retina, Pineal, Lung

Publications for Familial Retinoblastoma

Articles related to Familial Retinoblastoma:

(show top 50) (show all 63)
# Title Authors Year
1
A polymorphism in mir-34b/c as a potential biomarker for early onset of hereditary retinoblastoma. ( 28106538 )
2017
2
Psychosocial determinants for treatment decisions in familial retinoblastoma. ( 28085520 )
2017
3
Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome. ( 28348883 )
2017
4
Pineal cysts-A benign association with familial retinoblastoma. ( 27689687 )
2016
5
Knowledge of genetics in familial retinoblastoma. ( 27427836 )
2016
6
Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene. ( 26763876 )
2016
7
Prenatal versus Postnatal Screening for Familial Retinoblastoma. ( 27712844 )
2016
8
Second cranio-facial malignancies in hereditary retinoblastoma survivors previously treated with radiation therapy: clinic and radiologic characteristics and survival outcomes. ( 23415887 )
2013
9
Whole-body magnetic resonance imaging (WB-MRI) as surveillance for subsequent malignancies in survivors of hereditary retinoblastoma: A pilot study. ( 24402721 )
2013
10
Radical radiotherapy for radiation-induced malignancy in the context of Hereditary retinoblastoma. ( 23357193 )
2013
11
A 10-year experience of outcome in chemotherapy-treated hereditary retinoblastoma. ( 24119165 )
2013
12
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
13
Sarcomas in hereditary retinoblastoma. ( 23036192 )
2012
14
Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma. ( 22027510 )
2012
15
Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. ( 22180099 )
2012
16
RB1 mutations and second primary malignancies after hereditary retinoblastoma. ( 22205104 )
2012
17
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study. ( 21921957 )
2011
18
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma. ( 21814224 )
2011
19
Cutaneous leiomyosarcoma and intramuscular myxoid liposarcoma in a patient with hereditary retinoblastoma. ( 20534095 )
2010
20
Familial retinoblastoma in developing countries. ( 19434730 )
2009
21
Familial retinoblastoma with unilateral and unifocal involvement in 2 families. ( 18779498 )
2008
22
Genotype-phenotype correlations in hereditary familial retinoblastoma. ( 17096365 )
2007
23
Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. ( 16613925 )
2006
24
De novo intraocular retinoblastoma development after chemotherapy in patients with hereditary retinoblastoma. ( 16603962 )
2006
25
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. ( 12569181 )
2003
26
Sarcoma and familial retinoblastoma. ( 14516425 )
2003
27
Simultaneous presentation of retinopathy of prematurity and bilateral familial retinoblastoma in a premature infant. ( 12691233 )
2003
28
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
29
A microsatellite fluorescent method for linkage analysis in familial retinoblastoma and deletion detection at the RB1 locus in retinoblastoma and osteosarcoma. ( 11277399 )
2001
30
At what age could screening for familial retinoblastoma be stopped? A register based study 1945-98. ( 11004105 )
2000
31
Multiple acral fibromas in a patient with familial retinoblastoma: a cutaneous marker of tumour-suppressor gene germline mutation? ( 11069472 )
2000
32
A case of naevus sebaceous associated with familial retinoblastoma, multiple lipomata and meningioma. ( 10886176 )
2000
33
Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. ( 10561222 )
1999
34
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. ( 10486322 )
1999
35
[Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma]. ( 9621119 )
1998
36
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. ( 10671068 )
1998
37
Familial retinoblastoma: where and when? ( 9686848 )
1998
38
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. ( 9342358 )
1997
39
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. ( 8651278 )
1996
40
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. ( 8605116 )
1995
41
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. ( 7795591 )
1995
42
[New retinal tumors in hereditary retinoblastoma]. ( 7609378 )
1995
43
Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors. ( 8152792 )
1994
44
Molecular analysis of alleles segregation at RFLPs within RB-1 gene in four families with hereditary retinoblastoma. ( 7603079 )
1994
45
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. ( 7704558 )
1994
46
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. ( 7927327 )
1994
47
An association of the RB gene with osteosarcoma: molecular genetic evaluation of a case of hereditary retinoblastoma. ( 8217129 )
1993
48
Utilization of a polymorphic variable-number-tandem-repeat DNA region within the RB1 gene for early diagnosis of hereditary retinoblastoma. ( 8100222 )
1993
49
Prophylactic retinal radiotherapy has an exceptional place in the management of familial retinoblastoma. ( 8398703 )
1993
50
Mechanisms of oncogenesis in patients with familial retinoblastoma. ( 8217609 )
1993

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

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein kinase activity GO:0006469 9.16 ASPN RB1
2 negative regulation of cell proliferation GO:0008285 9.13 MDM4 PTH1R RB1
3 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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