Von Hippel-Lindau syndrome

At a minimum, these SNPs are known to be related, and others may also be

	Max Magnitude
rs104893824	7
rs104893825	7
rs104893826	7
rs104893829	0
rs104893830	7
rs1060503552	7
rs119103277	7
rs121913346	7
rs143985153	7
rs1642742	0
rs193922608	7
rs193922609	7
rs193922610	7
rs193922611	7
rs193922613	7
rs267607170	7
rs281860296	7
rs28940297	7
rs28940298	0
rs367545984	7
rs373068386	0
rs397516440	7
rs397516441	7
rs397516442	7
rs397516443	7
rs397516444	7
rs397516445	7
rs398123481	7
rs398123482	7
rs398123483	7
rs5030648	0
rs5030802	7
rs5030804	7
rs5030807	7
rs5030808	7
rs5030809	7
rs5030810	7
rs5030813	7
rs5030814	7
rs5030816	7
rs5030817	7
rs5030818	7
rs5030819	7
rs5030820	7
rs5030821	7
rs5030823	7
rs5030824	0
rs5030826	7
rs5030827	7
rs5030832	7
... further results

Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.GHR

Inherited in an autosomal dominant manner, mutations in the VHL gene cause Von Hippel-Lindau syndrome, and the incidence is estimated to be 1 in 36,000 individuals. OMIM emphasizes that this disorder has a highly variable phenotype, even within families, and subdivides the syndrome into four types as follows:

• VHL type 1 - renal carcinoma and hemangioblastoma
• VHL type 2A - hemangioblastoma and pheochromocytoma
• VHL type 2B - renal carcinoma and pheochromocytoma
• VHL type 2C - pheochromocytoma only