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Table 1 Types of hereditary angioedema

From: Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

HAE type Gene Nucleotide change Protein change Chromosome First described by Methods used
HAE-C1-INH SERPING1 Numerous Numerous 11 Stoppa-Lyonnet et al. [4] Southern blot analysis, linkage analysis
HAE-FXII F12 c.983C > A p.T328K 5 Dewald and Bork [7] Candidate gene, Sanger sequencing, linkage analysis
   c.983C > G p.T328R 5 Dewald and Bork [7] Candidate gene, Sanger sequencing, linkage analysis
   c.971_1018 + 24del72 Indel 5 Bork et al. [13] Sanger sequencing, linkage analysis
   c.892_909dup dup p.298_303 5 Kiss et al. [14] Sanger sequencing, linkage analysis
HAE-PLG PLG c.988A > G p.K330E 6 Bork et al. [10] WES, linkage analysis, Sanger sequencing
HAE-ANGPT1 ANGPT1 c.807G > T p.A119S 8 Bafunno et al. [9] WES, linkage analysis
HAE-KNG1 KNG1 c.1136 T > A p.M379K 3 Bork et al. [11] WES, linkage analysis, Sanger sequencing
HAE-Myoferlin MYOF c.651G > T p.R217S 10 Ariano et al. [12] WES, linkage analysis
HAE-unknown nia na na na na na
  1. ANGPT1 = angiopoietin-1 gene, bp = base pairs, C1-INH = C1 esterase inhibitor, del = deletion, dup = duplication, F12 = coagulation factor XII gene, FXII = coagulation factor XII protein, HAE = hereditary angioedema, HAE-ANGPT1 = HAE with a specific angiopoietin-1 gene mutation, HAE-C1-INH = HAE due to C1-INH deficiency, HAE-FXII = HAE with a specific coagulation FXII gene mutation, HAE-KNG1 = HAE with a specific kininogen-1 gene mutation, HAE-Myoferlin = HAE with a specific myoferlin gene mutation, HAE-PLG = HAE with a specific plasminogen gene mutation, KNG1 = kininogen-1 gene, na = not applicable, ni = not identified, MYOF = myoferlin gene, PLG = plasminogen gene, WES = whole exome sequencing
  2. aBy definition