Disease

Hereditary Hemorrhagic Telangiectasia

About the Disease
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 Bevacizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and brain, and related phenotypes are telangiectasia of the skin and hemoptysis

Common Targets
FLT1 | FLT4 | G4233 | KDR | GH1 | Estrogen receptor (nonspecified subtype) | PPP3R2 | Somatostatin receptor (nonspecified subtype) | F2 | G7124 | Matrix Metalloproteinase (MMP) (nonspecified subtype) | ENG | PPP3CC | ANGPT2 | GDF2 | PDGFRA | DCX (DDB1-CUL4-X-box) E3 protein ligase complex | CAND1.11 | KIT | SMURF1 | ACVRL1 | SST | CRBN | PPP3CB | Vascular endothelial growth factors (VEGF) (nonspecified subtype) | PPP3R1 | PDGFRB | IFNAR2 | Protein Phosphatase 2B | G4089

疾病靶点研报
Hereditary Hemorrhagic Telangiectasia

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