Genotype-phenotype correlations in von Hippel-Lindau disease

J Intern Med. 1998 Jun;243(6):541-5. doi: 10.1046/j.1365-2796.1998.00336.x.


A total of 146 intragenic germline mutations of the von Hippel-Lindau (VHL) gene are known and this figure is still increasing. To date, information for mutation-specific genetic counselling is insufficient, since either the total number of carriers is very low or clinical information and investigation of symptomatic and asymptomatic is incomplete. This review summarizes all known mutations and includes the centres which performed the mutation analyses and may provide further information regarding specific mutations.

Publication types

  • Review

MeSH terms

  • Genetic Counseling
  • Genotype
  • Humans
  • Mutation
  • Phenotype
  • von Hippel-Lindau Disease / genetics*