Hereditary Hemorrhagic Telangiectasia Type 2

About the Disease
Telangiectasia, Hereditary Hemorrhagic, Type 2, also known as hht2, is related to oto-palatal-digital syndrome and telangiectasia, hereditary hemorrhagic, type 1, 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 liver, lung and brain, and related phenotypes are facial telangiectasia and palmar telangiectasia

Common Targets
ENG | ACVRL1

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