Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary Angioedema

Hereditary Angioedema is an autosomal dominant disorders of complement regulation that are caused by mutations of the SERPING1 (formerly C1NH) and F12 genes. The clinical features are episodic and localized subcutaneous and submucosal edema. The latter may include the respiratory and the upper gastrointestinal tracts.

Classification

Three types of hereditary Angioedema can be distinguished. Type 1 is the most common representing 85% of patients in which the protein is below 35% the normal level. In type 2 a normal level of the protein is measured but it is dysfunctional. While in type 1 predominantly truncating mutations are found in the SERPING1 gene in type 2 dominate missense mutations in the same gene. Type 3 is caused by F12 mutations.

Systematic

Hereditary complement disorders
CR1 deficiency
Complement C2 deficiency
Complement C3 deficiency
Complement C5 deficiency
Complement C6 deficiency
Complement C7 deficiency
Complement C8 deficiency
Complement C9 deficiency
Complement component C4 deficiency
Complement factor D deficiency
Complement factor I deficiency
Early pathway complement deficiencies
Hereditary Angioedema
Hereditary Angioedema 1
SERPING1
Hereditary Angioedema 2
SERPING1
Hereditary Angioedema 3
F12
Properdin deficiency, X-linked
Terminal pathway complement deficiencies
Thrombotic microangiopathies

References:

1.

Levy NJ et al. (1990) Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

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2.

Theriault A et al. (1990) Regional assignment of the human C1-inhibitor gene to 11q11-q13.1.

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3.

Ariga T et al. (1989) Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.

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4.

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Muhlemann MF et al. (1987) Hereditary angioedema and thyroid autoimmunity.

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Weinstock LB et al. (1987) Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members.

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Zuraw BL et al. (1986) Demonstration of modified inactive first component of complement (C1) inhibitor in the plasmas of C1 inhibitor-deficient patients.

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Rosen FS et al. (1971) Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema.

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37.

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38.

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39.

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40.

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41.

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42.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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55.

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56.

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57.

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58.

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59.

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61.

Yakushiji Y et al. (2007) Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.

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62.

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63.

Zuraw BL et al. (2010) Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema.

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64.

Cicardi M et al. (2010) Ecallantide for the treatment of acute attacks in hereditary angioedema.

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65.

Cicardi M et al. (2010) Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema.

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66.

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67.

Giavina-Bianchi P et al. (2011) Therapeutic agents for hereditary angioedema.

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68.

None (2011) Therapeutic agents for hereditary angioedema.

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69.

Hancock DB et al. (2011) Determinants of lung function, COPD, and asthma.

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70.

OMIM.ORG article

Omim 106100 [^]
71.

Orphanet article

Orphanet ID 91378 [^]
72.

Wikipedia article

Wikipedia EN (Hereditary_angioedema) [^]
Update: April 29, 2019