Categories: Genetic diseases, Rare diseases, Eye diseases, Cancer diseases, Immune diseases, Neuronal diseases, Endocrine diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Retinoblastoma:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Europe),1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy; Age of death: any age
Penetrance: see genotype-phenotype correlations...
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Eye diseases, Immune diseases, Neuronal diseases, Endocrine diseases
Rare eye diseases
NIH Rare Diseases:47 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 trilateral retinoblastoma, is related to extraocular retinoblastoma and intraocular retinoblastoma, and has symptoms including retinoblastoma, cleft palate and leukocoria. An important gene associated with Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways are Id Signaling Pathway and Sumoylation by RanBP2 regulates transcriptional repression. The drug cyclophosphamide has been mentioned in the context of this disorder. Affiliated tissues include the pineal or suprasellar region, eye and retina, and related mouse phenotypes are digestive/alimentary and muscle.
Disease Ontology:11 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:25 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.
OMIM:51 Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood... (180200) more...
UniProtKB/Swiss-Prot:69 Childhood cancer retinoblastoma: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated.
Wikipedia:70 Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,... more...
GeneReviews for NBK1452
Human phenotypes related to Retinoblastoma:63 53 (show all 9)
FDA approved drugs:
Drugs for Retinoblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 153)
Interventional clinical trials:(show top 50) (show all 110)
Search NIH Clinical Center for Retinoblastoma
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Retinoblastoma:35
Eye, Retina, Lung, Prostate, Bone, Pineal, Testes
FMA organs/tissues related to Retinoblastoma:17
The pineal or suprasellar region
MGI Mouse Phenotypes related to Retinoblastoma:40 (show all 16)
Articles related to Retinoblastoma:(show top 50) (show all 2447)
UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:69 (show all 22)
Clinvar genetic disease variations for Retinoblastoma:5 (show all 103)
Cosmic variations for Retinoblastoma:8 (show all 38)
Copy number variations for Retinoblastoma from CNVD:6 (show top 50) (show all 60)
Search GEO for disease gene expression data for Retinoblastoma.
Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:(show all 47)
Cellular components related to Retinoblastoma according to GeneCards Suite gene sharing:
Biological processes related to Retinoblastoma according to GeneCards Suite gene sharing:(show all 19)
Molecular functions related to Retinoblastoma according to GeneCards Suite gene sharing:(show all 8)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet