von Hippel-Lindau syndrome

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:hereditary_cancer_syndrome
gptkbp:associatedWith	gptkb:hemangioblastoma gptkb:retinal_angioma gptkb:renal_cell_carcinoma gptkb:pheochromocytoma endolymphatic sac tumor pancreatic cysts
gptkbp:category	gptkb:neurocutaneous_syndrome gptkb:rare_disease
gptkbp:diagnosedBy	genetic testing
gptkbp:firstDescribed	gptkb:Eugen_von_Hippel gptkb:Arvid_Lindau 1904
gptkbp:ICD-10_code	Q85.8
gptkbp:inheritance	autosomal dominant
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:pancreatic_neuroendocrine_tumors kidney cancer central nervous system tumors
gptkbp:symptom	vision problems high blood pressure headaches
gptkbp:treatment	gptkb:targeted_therapy regular surveillance surgical removal of tumors
gptkbp:bfsParent	gptkb:Clear_cell_adenocarcinoma_of_the_kidney
gptkbp:bfsLayer	10
https://www.w3.org/2000/01/rdf-schema#label	von Hippel-Lindau syndrome