|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:hereditary_cancer_syndrome
|
|
gptkbp:associatedWith
|
gptkb:epididymal_cystadenoma
gptkb:hemangioblastoma
gptkb:retinal_angioma
gptkb:renal_cell_carcinoma
gptkb:pheochromocytoma
endolymphatic sac tumor
pancreatic cysts
|
|
gptkbp:category
|
gptkb:phakomatosis
gptkb:neurocutaneous_syndrome
gptkb:rare_disease
|
|
gptkbp:diagnosedBy
|
genetic testing
clinical criteria
|
|
gptkbp:firstDescribed
|
gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
1904
|
|
gptkbp:fullName
|
Von Hippel–Lindau syndrome
|
|
gptkbp:functionOfVHLProtein
|
tumor suppression
|
|
gptkbp:hasDatabaseEntry
|
gptkb:Orphanet:_Von_Hippel-Lindau_disease
Genetics Home Reference: VHL
MedlinePlus: VHL syndrome
NIH Genetic and Rare Diseases Information Center
|
|
gptkbp:ICD-10_code
|
Q85.8
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3p25-26
|
|
gptkbp:managedBy
|
multidisciplinary care
|
|
gptkbp:mutationAssociatedWith
|
gptkb:VHL_gene
|
|
gptkbp:namedAfter
|
gptkb:Eugen_von_Hippel
gptkb:Arvid_Lindau
|
|
gptkbp:OMIM
|
193300
|
|
gptkbp:prevalence
|
1 in 36,000
|
|
gptkbp:proteinAffected
|
gptkb:pVHL
|
|
gptkbp:riskFactor
|
malignant transformation
increased risk of multiple tumors
|
|
gptkbp:supportGroup
|
gptkb:VHL_Alliance
|
|
gptkbp:symptom
|
balance problems
hypertension
vision loss
headaches
|
|
gptkbp:treatment
|
regular surveillance
surgical removal of tumors
|
|
gptkbp:bfsParent
|
gptkb:Von_Hippel-Lindau_Disease
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
VHL syndrome
|