Von Hippel-Lindau syndrome

URI: https://gptkb.org/entity/Von_Hippel-Lindau_syndrome
GPTKB entity
Statements (38)
Predicate Object
gptkbp:instanceOf genetic disorder
hereditary cancer syndrome
gptkbp:abbreviation gptkb:VHL_syndrome
gptkbp:associatedWith gptkb:hemangioblastoma
gptkb:retinal_angioma
gptkb:pheochromocytoma
renal cell carcinoma
endolymphatic sac tumor
pancreatic cysts
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
1904
https://www.w3.org/2000/01/rdf-schema#label Von Hippel-Lindau syndrome
gptkbp:ICD-10_code Q85.8
gptkbp:inheritance autosomal dominant
gptkbp:locatedOnChromosome gptkb:chromosome_3p25-26
gptkbp:MeSH_ID gptkb:D014842
gptkbp:mutationAssociatedWith gptkb:VHL_gene
gptkbp:namedAfter gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
gptkbp:OMIM 193300
gptkbp:prevalence 1 in 36,000
gptkbp:riskFactor gptkb:central_nervous_system_hemangioblastoma
gptkb:pancreatic_neuroendocrine_tumors
kidney cancer
gptkbp:socialMedia https://rarediseases.info.nih.gov/diseases/7440/von-hippel-lindau-disease
https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
https://www.vhl.org/
gptkbp:symptom vision problems
high blood pressure
headaches
gptkbp:treatment targeted therapy
regular surveillance
surgical removal of tumors
gptkbp:UMLS_CUI C0042790
gptkbp:bfsParent gptkb:Von_Hippel-Lindau_Disease
gptkbp:bfsLayer 7