Hereditary retinoblastoma

MONDO:0018160

An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood.

Also known as: RB1, RB1-related retinoblastoma predisposition, familial retinoblastoma, hereditary retinoblastoma, retinoblastoma, autosomal dominant, somatic mutation, retinoblastoma, trilateral, autosomal dominant, somatic mutation

2584 clinical trials for this condition and its sub-types.

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