familial rhabdoid tumor
Findings
No curated finding names familial rhabdoid tumor yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.
Definition from the Mondo Disease Ontology (MONDO:0016473), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
8 names
Resolves to: familial rhabdoid tumor
- Also called
- familial posterior fossa brain tumor syndrome of infancyfamilial posterior fossa brain tumour syndrome of infancyhereditary rhabdoid tumorhereditary rhabdoid tumourrhabdoid predisposition syndromerhabdoid tumor predisposition syndromerhabdoid tumour predisposition syndromeRTPS