A user's guide to the interactive Web database of factor H-associated hemolytic uremic syndrome

Semin Thromb Hemost. 2006 Mar;32(2):160-8. doi: 10.1055/s-2006-939772.

Abstract

Atypical hemolytic uremic syndrome (aHUS) mutations have been reported in the complement regulatory proteins factor H, factor I, and membrane cofactor protein (MCP). Mutations within factor H are also associated with membranoproliferative glomerulonephritis and age-related macular degeneration. The increasing amount of information on aHUS requires organization if it is to be usable. Accordingly, an interactive factor H aHUS Web database has been developed (http://www.fh-hus.org) that integrates genotypic, phenotypic, and structural information for mutations within human factor H. This provides a valuable tool for the interpretation of previously reported aHUS mutations, and provides prediction and analysis tools for new mutations. It will be extended to include mutations in factor I and MCP. Here, we describe how to use this Web database as a research tool, and indicate possible future directions depending on feedback from the clinical community.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Complement Factor H / genetics*
  • Databases, Factual*
  • Hemolytic-Uremic Syndrome / blood*
  • Hemolytic-Uremic Syndrome / genetics*
  • Humans
  • Internet
  • Mutation

Substances

  • Complement Factor H