rhabdoid tumor hereditary neoplastic syndrome familial rhabdoid tumor https://www.malacards.org/card/rhabdoid_tumor_predisposition_syndrome MEDGEN:457750 rhabdoid tumor predisposition syndrome familial posterior fossa brain tumor syndrome of infancy NCIT:C93268 RTPS Orphanet:231108 hereditary rhabdoid tumor rhabdoid tumour predisposition syndrome OMIMPS:609322 UMLS:C2985524 MONDO:0016473 rhabdoid predisposition syndrome GARD:0017159 familial rhabdoid tumor 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. familial posterior fossa brain tumour syndrome of infancy hereditary rhabdoid tumour DOID:0070617 obsolete_familial rhabdoid tumor