{"id":27186,"date":"2024-05-26T16:27:07","date_gmt":"2024-05-26T14:27:07","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27186"},"modified":"2025-08-27T10:42:26","modified_gmt":"2025-08-27T08:42:26","slug":"von-hippel-lindau-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/von-hippel-lindau-syndrome\/","title":{"rendered":"Von Hippel-Lindau Syndrome"},"content":{"rendered":"

Von Hippel-Lindau Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Von Hippel-Lindau syndrome (SGS, OMIM #193300) is a genetic disease caused by pathogenic variants in the VHL<\/em> gene. It is characterized by hemangioblastomas (HB) of the brain, the spinal cord, and the retina and by a predisposition to clear cell renal cell carcinomas (RCC) and renal cysts, pheochromocytomas (PHEO), pancreatic cysts, and neuroendocrine tumors (NET), endolymphatic sac tumors (ELST), and cysts of the epididymis and adnexa.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

–<\/p>\n<\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

VHL<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

pVHL (Von Hippel-Lindau tumor suppressor)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Tumor suppressor; the absence or a mutated form of pVHL results in the accumulation of HIF1\u03b1 due to the inability of HIF to bind to pVHL and thereby leads to cell proliferation and neovascularization of tumors.<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant, around 20% de novo<\/em> mutations<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

The incidence is around 1:36.000<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

VHL is subdivided into 5 types, which are associated with different pathogenic variants:<\/p>\n