Telangiectasia, Hereditary Hemorrhagic, Type 2 (HHT2)

Telangiectasia, Hereditary Hemorrhagic, Type 2, also known as hht2, is related to telangiectasia, hereditary hemorrhagic, type 1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, and has symptoms including cyanosis, dyspnea and seizures. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 2 is ACVRL1 (Activin A Receptor Like Type 1). Affiliated tissues include lung and liver, and related phenotypes are spontaneous, recurrent epistaxis and facial telangiectasia