Von Hippel-Lindau Disease

Table 1 Genotype-phenotype correlation for von Hippel-Lindau disease and possible responsible pathophysiological mechanism

Type VHL	Type of VHL gene germline mutation	Retinal HAB	CNS HAB	RCC	PHAEO	Mechanisms for VHL mediated tumourigenesis
1	missense	+	+	+	-	loss of function (i.e. HIF-1α degradation)
	microdeletions
	insertions
	splice site
	nonsense
	large deletions
2A	missense	+	+	-	+	gain of function (PHAEO)
2B	missense	+	+	+	+	loss of function (HAB+RCC)
2C	missense	-	-	-	+	gain of function, fibronectin

HAB, haemangioblastoma; CNS, central nervous system; RCC, renal cell carcinoma (clear cell type); PHAEO, phaeochromocytoma; HIF, hypoxia-inducible factor; +, tumour present; -, tumour absent

ISSN: 1897-4287