/hereditary retinoblastoma

hereditary retinoblastoma

Rare Disease

MONDO:0018160

Also Known As

RB1RB1-related retinoblastoma predispositionfamilial retinoblastomahereditary retinoblastomaretinoblastoma, autosomal dominant, somatic mutationretinoblastoma, trilateral, autosomal dominant, somatic mutation

Definition

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.