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Up to: Hereditary neurological disease · Hereditary neoplastic syndrome · Autosomal dominant disease · Retinoblastoma
Hereditary retinoblastoma
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.
This condition has no sub-types.