Rhabdoid tumor predisposition syndrome

Also known as: RTPS

Germline SMARCB1 or SMARCA4 mutation with rhabdoid tumors.

Medical specialty: Oncology
Subspecialty: Oncology / Hereditary cancer syndromes
Sex & age distribution: Male: affected; Female: affected; Children: yes, infants
Gene(s) involved: SMARCA4, SMARCB1

Etiology & mechanism

SWI/SNF complex loss.

Gene(s) involved (2)

SMARCA4SMARCB1

Symptoms & signs (4)

abdominal massatypical teratoid rhabdoid tumorhydrocephalusmalignant rhabdoid tumor of kidney

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