Retinoblastoma (RB) malady

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 bilateral retinoblastoma and trilateral retinoblastoma, and has symptoms including retinoblastomaand autosomal dominant inheritance. An important gene associated with Retinoblastoma is RB1 (retinoblastoma 1), and among its related pathways are Cell Cycle and E2F transcription factor network. The drug cyclophosphamide and the compounds polypropylene glycol and hpvs have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and cellular.

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:⁶⁴ 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

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Disease Ontology8 DOID:768 OMIM47 180200 NCIt40 C7541, C6956 MeSH35 D012175 SNOMED-CT57 370967009, 189935007, 134191003 189934006, 154553002, 19906005, 269614001, more

ICD10 via Orphanet26 C69.2 SNOMED-CT via Orphanet58 19906005, 370967009 UMLS via Orphanet62 C0035335 MESH via Orphanet36 D012175 UMLS61 C0035335

Clinical features from OMIM:

180200

Clinical synopsis from OMIM:

180200

Symptoms:

⁴⁹

retinoblastoma

autosomal dominant inheritance

Search GEO for disease gene expression data for Retinoblastoma.