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familial rhabdoid tumor (RTPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial rhabdoid tumor

MONDO:0016473

Also known as:RTPSfamilial posterior fossa brain tumor syndrome of infancyfamilial posterior fossa brain tumour syndrome of infancy

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Overview

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.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for familial rhabdoid tumor has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

33 publications have been identified in PubMed for familial rhabdoid tumor. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (30%), and Gene Therapy / Novel Therapeutics (12%).

Research Type	Count	% of Total
Patient case studies	11	33%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:231108

GARD

Genetic and Rare Diseases Info Center

GARD:17159

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial rhabdoid tumor

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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