VHL

GPTKB entity

Statements (60)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:associated_with gptkb:disease
gptkb:hemangioblastomas
gptkb:pheochromocytomas
gptkbp:breeding_range 3p25.3
gptkbp:caused_by mutation in the VHL gene
gptkbp:clinical_trial ongoing
gptkbp:complications gptkb:Oncology
kidney failure
vision loss
gptkbp:condition gptkb:Von_Hippel-Lindau_syndrome
gptkbp:diagnosis variable
genetic testing
depends on stage of disease
depends on tumor type
gptkbp:discovered_by gptkb:Arvid_Carlsson
gptkbp:first_described_by gptkb:1964
gptkbp:funding non-profit organizations
government grants
private donations
gptkbp:gene_function tumor suppression
gptkbp:genetic_studies recommended
https://www.w3.org/2000/01/rdf-schema#label VHL
gptkbp:inherits_from autosomal dominant
gptkbp:patient_support_organizations gptkb:VHL_Alliance
gptkbp:prevalence 1 in 36,000
gptkbp:provides_guidance_on ESMO guidelines
NCCN guidelines
gptkbp:public_awareness gptkb:VHL_Awareness_Day
gptkb:educational_resources
community outreach
gptkbp:research_focus tumor suppressor genes
cancer genetics
gptkbp:risk_factor family history
genetic predisposition
gptkbp:screenings blood pressure monitoring
annual MRI
ultrasound of kidneys
gptkbp:symptoms blood tests
vision problems
high blood pressure
headaches
regular check-ups
imaging tests
gptkbp:treatment gptkb:pharmaceuticals
gptkb:immunotherapy
gptkb:surgery
surveillance
radiation therapy
targeted therapy
improved with early detection
depends on tumor management
varies by treatment type
gptkbp:bfsParent gptkb:Russian_Ice_Hockey_Federation
gptkb:Krasnoyarsk_Lokomotiv
gptkb:Dynamo_Sports_Society
gptkb:Metallurg_Novokuznetsk
gptkb:Krasnoyarsk_Siberians
gptkb:Saratov_Ice_Hockey_Club
gptkbp:bfsLayer 5