Skip to main content

Table 1 Types of hereditary angioedema with normal C1-INH

From: Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene

HAE typeGeneNucleotide changeAA changeChromosomeVariant first described
HAE-FXIIF12c.983C > Ap.T328K5Dewald and Bork 2006 [5]
HAE-FXIIF12c.983C > Gp.T328R5Dewald and Bork 2006 [5]
HAE-FXIIF12c.971_1018 + 24del72Indel5Bork et al. 2011 [11]
HAE-FXIIF12c.892_909dupDuplication
p.298_303
5Kiss et al. 2013 [12]
HAE-PLGPLGc.988A > Gp.K330E6Bork et al 2018 [8]
HAE-ANGPT1ANGPT1c.807G > Tp.A119S8Bafunno et al. 2018 [7]
HAE-KNG1KNG1c.1136 T > Ap.M379K3Bork et al. 2019 [9]
  1. AA amino acid, ANGPT1 angiopoietin-1, F12 coagulation factor XII gene, FXII coagulation factor XII protein, HAE hereditary angioedema, HAE-PLG HAE with the c.988A > G (p.K330E) variant in the plasminogen gene; KNG1 kininogen1 gene