Von Hippel-Lindau disease

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

GPTKB entity

Predicate	Object
gptkbp:instanceOf	genetic disorder hereditary cancer syndrome
gptkbp:abbreviation	gptkb:VHL
gptkbp:affects	central nervous system kidneys eyes pancreas adrenal glands inner ear
gptkbp:associatedWith	gptkb:epididymal_cystadenoma gptkb:hemangioblastoma gptkb:retinal_angioma gptkb:pheochromocytoma renal cell carcinoma endolymphatic sac tumor pancreatic cysts cerebellar hemangioblastoma
gptkbp:category	gptkb:phakomatosis gptkb:neurocutaneous_syndrome
gptkbp:complication	metastasis hearing loss vision impairment malignancy
gptkbp:containsGene	gptkb:VHL
gptkbp:diagnosedBy	MRI genetic testing
gptkbp:firstDescribed	gptkb:Eugen_von_Hippel gptkb:Arvid_Lindau
gptkbp:frequency	1 in 36,000
gptkbp:hasOrphanetID	ORPHA:448
gptkbp:hasPatientSupportGroup	gptkb:VHL_Alliance VHL Family Alliance
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	gptkb:D014842
gptkbp:mutationAssociatedWith	gptkb:VHL_gene
gptkbp:namedAfter	gptkb:Eugen_von_Hippel gptkb:Arvid_Lindau
gptkbp:OMIM	193300
gptkbp:onset	young adulthood
gptkbp:prevalence	rare
gptkbp:riskFactor	family history
gptkbp:symptom	headache hypertension vision loss
gptkbp:treatment	radiation therapy targeted therapy surgical removal of tumors
gptkbp:bfsParent	gptkb:Clear_cell_carcinoma gptkb:VHL
gptkbp:bfsLayer	6