HHT Mutation Database

(Hereditary Hemorrhagic Telangiectasia)

The University of Utah Department of Pathology and ARUP Laboratories is pleased to host the HHT Mutation Database in concert with HHT Foundation International.

The purpose of this database is to document all known ACVRL1 and ENG gene variants, including both sequence based changes and large deletion/duplications that have been linked to HHT, as well as available associated clinical information or significant literature related to the disorder.



ACVRL1 Database           ENG Database