Von Hippel-Lindau Disease

URI: https://gptkb.org/entity/Von_Hippel-Lindau_Disease

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:hereditary_cancer_syndrome
gptkbp:abbreviation	gptkb:VHL
gptkbp:associatedWith	gptkb:hemangioblastoma gptkb:retinal_angioma gptkb:renal_cell_carcinoma gptkb:pheochromocytoma endolymphatic sac tumor pancreatic cysts
gptkbp:category	gptkb:phakomatosis gptkb:hereditary_cancer_syndrome gptkb:rare_disease neoplastic syndrome
gptkbp:diagnosedBy	genetic testing clinical criteria
gptkbp:firstDescribed	gptkb:Eugen_von_Hippel gptkb:Arvid_Lindau 1904
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:onset	childhood young adulthood
gptkbp:prevalence	1 in 36,000
gptkbp:riskFactor	gptkb:broad_ligament_cystadenoma gptkb:central_nervous_system_hemangioblastoma gptkb:clear_cell_renal_carcinoma gptkb:epididymal_cystadenoma gptkb:pancreatic_neuroendocrine_tumors
gptkbp:synonym	gptkb:VHL_disease gptkb:VHL_syndrome gptkb:Von_Hippel-Lindau_syndrome
gptkbp:treatment	gptkb:targeted_therapy regular surveillance surgical removal of tumors
gptkbp:UMLS_CUI	C0042790
gptkbp:bfsParent	gptkb:Intracranial_Tumors
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	Von Hippel-Lindau Disease