Telangiectasia, Hereditary Hemorrhagic, Type 1 (HHT1)

Telangiectasia, Hereditary Hemorrhagic, Type 1, also known as orw disease, is related to juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome and pulmonary hypertension, primary, 1, and has symptoms including cyanosis, dyspnea and seizures. An important gene associated with Telangiectasia, Hereditary Hemorrhagic, Type 1 is ENG (Endoglin), and among its related pathways/superpathways are TGF-beta Signaling Pathways and ALK1 signaling events. The drugs Petrolatum and Mupirocin have been mentioned in the context of this disorder. Affiliated tissues include lung and liver, and related phenotypes are hemoptysis and dyspnea