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rhabdoid tumor predisposition syndrome type 1 (RTPS1)

Defects in SMARCB1 are a cause of rhabdoid tumor predisposition syndrome type 1 (RTPS1) [MIM:609322]; also known as malignant rhabdoid tumor (MRT). RDT are a highly malignant group of neoplasms that usually occur in early childhood. SMARCB1/INI1 is also frequently inactivated in epithelioid sarcomas.

OTHER NAME(S): malignant rhabdoid tumor



Related patway(s): chromatin remodeling

DNAtraffic protein(s) related to disease: SMARCB1 (SNF5)

OMIM: 609322

Last modification date: Aug. 25, 2011