ACVRL1 and telangiectasia, hereditary hemorrhagic, type 1: HHT is a genetically heterogeneous disorder, HHT type 1 (HHT1) is caused by mutations in the ENG (endoglin) gene located on chromosome 9, region 9q33-q34, whereas HHT type 2 (HHT2) is caused by mutations in the ACVRL1 (activin receptor-like kinase 1 or ALK-1) gene located on chromosome 12, region 12q11-q14.