Mutations linked to HAE with normal C1-INH

The figure shows the pathways in the fibrinolytic (upper half) and kallikrein/kinin (lower half) systems that are believed to be impacted by the described mutations linked to various types of HAE with normal C1-INH. Various proteases and protease inhibitors are shown in blue. HAE-specific mutations (marked with red squares) are placed adjacent to the portions of the pathways that would be affected.

ANGPT1: angiopoietin-1 gene; B2R: bradykinin-2 receptor; C1-INH: C1 esterase inhibitor; F12: coagulation factor XII gene; HS3ST6: heparan sulfate-glucosamine 3-O-sulfotransferase 6 gene; HMWK: high molecular weight kininogen; KNG1: kininogen-1 gene; MYOF: myoferlin gene; PAI: plasminogen activator inhibitor; PLG: plasminogen gene; TIE2: tyrosine-protein kinase; tPA: tissue plasminogen activator; scuPA: single-chain urokinase-type plasminogen activator; uPA: urokinase-type plasminogen activator; VEGF: vascular endothelial growth factor.

From: Bork K, Machnig T, Wulff K, et al. Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence. Orphanet J Rare Dis 2020; 15:289. Available at: https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01570-x. Copyright © 2020 The Authors. Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Mutations linked to HAE with normal C1-INH