Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Hemorrhagic Telangiectasia, also known as rendu-osler-weber disease, is related to juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome and telangiectasia, hereditary hemorrhagic, type 1, and has symptoms including cyanosis, dyspnea and seizures. An important gene associated with Hereditary Hemorrhagic Telangiectasia is ENG (Endoglin), and among its related pathways/superpathways are TGF-beta Signaling Pathways and Signaling by BMP. The drugs Petrolatum and Mupirocin have been mentioned in the context of this disorder. Affiliated tissues include Lateral Plate Mesoderm, liver and skin, and related phenotypes are mucosal telangiectasiae and telangiectasia of the skin