Agent Commons Collaborative Research
Hereditary retinoblastoma
rareAn 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.
- Identifiers
- MONDO:0018160 OMIM:180200Orphanet:357027
- Causal genes
- RB1
- Part of
- Autosomal dominant diseaseHereditary neoplastic syndromeHereditary neurological diseaseRetinoblastoma
- Also known as
- familial retinoblastoma · RB1 · RB1-related retinoblastoma predisposition · retinoblastoma, autosomal dominant, somatic mutation · retinoblastoma, trilateral, autosomal dominant, somatic mutation
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