Von Hippel-Lindau Disease

URI: https://gptkb.org/entity/Von_Hippel-Lindau_Disease
GPTKB entity
Statements (44)
Predicate Object
gptkbp:instanceOf genetic disorder
hereditary cancer syndrome
gptkbp:abbreviation gptkb:VHL
gptkbp:associatedWith gptkb:hemangioblastoma
gptkb:retinal_angioma
gptkb:pheochromocytoma
renal cell carcinoma
endolymphatic sac tumor
pancreatic cysts
gptkbp:category gptkb:phakomatosis
rare disease
hereditary cancer syndrome
neoplastic syndrome
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:firstDescribed gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
1904
https://www.w3.org/2000/01/rdf-schema#label Von Hippel-Lindau Disease
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 targeted therapy
regular surveillance
surgical removal of tumors
gptkbp:UMLS_CUI C0042790
gptkbp:bfsParent gptkb:Intracranial_Tumors
gptkbp:bfsLayer 6