von Hippel–Lindau disease

URI: https://gptkb.org/entity/von_Hippel–Lindau_disease
GPTKB entity
Statements (40)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
gptkbp:affects multiple organ systems
gptkbp:alsoKnownAs gptkb:VHL_disease
gptkbp:associatedWith gptkb:hemangioblastoma
gptkb:retinal_angioma
gptkb:pheochromocytoma
renal cell carcinoma
endolymphatic sac tumor
pancreatic cysts
gptkbp:category gptkb:phakomatosis
gptkb:neurocutaneous_syndrome
gptkbp:diagnosedBy MRI
genetic testing
gptkbp:firstDescribed gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
1904
gptkbp:hasGeneticTest yes
gptkbp:hasOrphanetID ORPHA:892
https://www.w3.org/2000/01/rdf-schema#label von Hippel–Lindau disease
gptkbp:ICD-10_code Q85.8
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D014839
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 increased risk of cancer
gptkbp:supportersGroup gptkb:VHL_Alliance
gptkb:VHL_UK/Ireland
gptkbp:symptom high blood pressure
vision loss
headaches
gptkbp:treatment targeted therapy
regular surveillance
surgical removal of tumors
gptkbp:bfsParent gptkb:Eugen_von_Hippel
gptkb:Theodor_von_Hippel
gptkbp:bfsLayer 6