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hereditary retinoblastoma

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0018160:  hereditary retinoblastoma
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)