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.
MONDO:0002728
rhabdoid tumor
is_a
MONDO:0015356
hereditary neoplastic syndrome
is_a
RTPS
exact
familial posterior fossa brain tumor syndrome of infancy
exact
familial posterior fossa brain tumour syndrome of infancy
exact
familial rhabdoid tumor
exact
hereditary rhabdoid tumor
exact
hereditary rhabdoid tumour
exact
rhabdoid predisposition syndrome
exact
rhabdoid tumor predisposition syndrome
exact
rhabdoid tumour predisposition syndrome
exact
SPAC1250.01 SPCC16A11.14 SPAC2F7.08c SPCC1620.14c