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choroid plexus papilloma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

choroid plexus papilloma

MONDO:0009837

Also known as:choroid plexus papilloma, no ICD-O subtypepapilloma of the choroid plexuschildhood choroid plexus papilloma

Find Clinical TrialsTrials

Overview

Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.

GeneticsAutosomal dominant

OnsetADULT

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Osteosarcoma; and very common findings: Hydrocephalus, Choroid plexus papilloma, and Abnormal nervous system morphology. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Hydrocephalus, Headache

Diagnosis

Biomarker and diagnostic research for choroid plexus papilloma has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

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. Pipeline includes 1 PHASE1.

45 publications have been identified in PubMed for choroid plexus papilloma. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (20%), and Other (9%).

Research Type	Count	% of Total
Patient case studies	21	47%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:260500

Orphanet

European rare disease database

Orphanet:2807

GARD

Genetic and Rare Diseases Info Center

GARD:4214

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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choroid plexus papilloma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

choroid plexus papilloma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications