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 type

Gene

Nucleotide change

AA change

Chromosome

Variant first described

HAE-FXII

F12

c.983C > A

p.T328K

5

Dewald and Bork 2006 [5]

HAE-FXII

F12

c.983C > G

p.T328R

5

Dewald and Bork 2006 [5]

HAE-FXII

F12

c.971_1018 + 24del72

Indel

5

Bork et al. 2011 [11]

HAE-FXII

F12

c.892_909dup

Duplication

p.298_303

5

Kiss et al. 2013 [12]

HAE-PLG

PLG

c.988A > G

p.K330E

6

Bork et al 2018 [8]

HAE-ANGPT1

ANGPT1

c.807G > T

p.A119S

8

Bafunno et al. 2018 [7]

HAE-KNG1

KNG1

c.1136 T > A

p.M379K

3

Bork 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