von Hippel-Lindau syndrome

URI: https://gptkb.org/entity/von_Hippel-Lindau_syndrome
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf genetic disorder
hereditary cancer syndrome
gptkbp:associatedWith gptkb:hemangioblastoma
gptkb:retinal_angioma
gptkb:pheochromocytoma
renal cell carcinoma
endolymphatic sac tumor
pancreatic cysts
gptkbp:category gptkb:neurocutaneous_syndrome
rare disease
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: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 targeted therapy
regular surveillance
surgical removal of tumors
gptkbp:bfsParent gptkb:Clear_cell_adenocarcinoma_of_the_kidney
gptkbp:bfsLayer 6