Germline SMARCB1 or SMARCA4 mutation with rhabdoid tumors.
- Specialty
- Oncology
- Subspecialty
- Oncology / Hereditary cancer syndromes
- Sex & age distribution
- Male: affected; Female: affected; Children: yes, infants
- Gene(s) involved
- SMARCA4, SMARCB1
- Alternative names & eponyms
- RTPS
Etiology & mechanism
SWI/SNF complex loss.
Gene(s) involved (2)
Symptoms & signs (4)
In plain terms, someone with Rhabdoid tumor predisposition syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Cobalamin C syndrome
hydrocephalus
1 shared
Crouzon syndrome
hydrocephalus
1 shared
Dandy–Walker malformation
hydrocephalus
1 shared
Hereditary spastic paraplegia type 1
hydrocephalus
1 shared
Lhermitte–Duclos syndrome
hydrocephalus
1 shared
Mucopolysaccharidosis type I with neurological involvement
hydrocephalus
1 shared
Pfeiffer syndrome
hydrocephalus
1 shared
Pineal region tumor syndrome
hydrocephalus
1 shared
Shprintzen–Goldberg syndrome
hydrocephalus
1 shared
Walker–Warburg syndrome
hydrocephalus
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