Synonyms for the gene: HHT2, ORW2, SKR3, TSR-1, ACVRLK1, TGF-beta superfamily receptor type I
Gene location: 12q11-q14
Ligand: transforming growth factor beta
Inheritance: usually autosomal dominant (meaning that a parent is affected)
A patient who carries a mutation in ACVRL1 (ALK1) may develop:
(1) hereditary hemorrhagic telangiectasia (HHT)
(2) pulmonary arterial hypertension
(3) cerebral or other visceral arteriovenous malformations in patients who do not meet the criteria for HHT
Features of ACVRL1-related PAH:
(1) younger age at onset and diagnosis
(2) worse prognosis
Testing involves both sequence analysis and duplication/deletion analysis.
