Hereditary retinoblastoma

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.

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

Also identified as

• DOID 4648 per MONDO
• NCIT C8495 per MONDO
• OMIM 180200 per MONDO
• Orphanet 357027 per MONDO
• UMLS C0751483 per MONDO

Affected Organs