von Hippel-Lindau disease

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

GPTKB entity

Predicate	Object
gptkbp:instanceOf	genetic disorder rare disease autosomal dominant disease
gptkbp:abbreviation	gptkb:VHL_disease
gptkbp:affects	multiple organ systems
gptkbp:diagnosedBy	MRI genetic testing ophthalmologic examination
gptkbp:firstDescribed	gptkb:Eugen_von_Hippel gptkb:Arvid_Lindau
gptkbp:frequency	rare
gptkbp:hasDatabaseEntry	gptkb:DOID:0050425 gptkb:Genetics_Home_Reference:_Von_Hippel-Lindau_disease gptkb:HPO:0002616 gptkb:MeSH:D014839 gptkb:MedlinePlus:_Von_Hippel-Lindau_disease gptkb:Mondo:0008315 gptkb:Orphanet:_Von_Hippel-Lindau_disease gptkb:SNOMED_CT:_109981000119104 gptkb:UMLS:C0042790 GARD: Von Hippel-Lindau disease
https://www.w3.org/2000/01/rdf-schema#label	von Hippel-Lindau disease
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:onset	young adulthood
gptkbp:prevalence	1 in 36,000
gptkbp:riskFactor	malignancy family history of VHL
gptkbp:symptom	gptkb:epididymal_cystadenoma gptkb:hemangioblastoma gptkb:retinal_angioma gptkb:pheochromocytoma pancreatic neuroendocrine tumor renal cell carcinoma endolymphatic sac tumor pancreatic cysts cerebellar hemangioblastoma spinal hemangioblastoma
gptkbp:synonym	gptkb:VHL_disease gptkb:VHL_syndrome
gptkbp:treatment	targeted therapy regular surveillance surgical removal of tumors
gptkbp:bfsParent	gptkb:chromosome_3 gptkb:renal_cell_carcinoma gptkb:VHL-B gptkb:pancreatic_neuroendocrine_tumors
gptkbp:bfsLayer	6