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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.

Eggert J et al. (1982) Hereditary angioneurotic edema and HLA types in two Danish families.

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2.

Bowen B et al. (2001) A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.

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3.

Waytes AT et al. (1996) Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate.

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4.

Kramer J et al. (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema.

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5.

Weidenbach H et al. (1993) Precipitation of hereditary angioedema by infectious mononucleosis.

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6.

Cox M et al. (1995) Hereditary angioneurotic oedema: current management in pregnancy.

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7.

Van Dellen RC et al. (1980) Bladder involvement in hereditary angioedema.

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8.

Young DW et al. (1980) Plasmapheresis in hereditary angioneurotic edema and systemic lupus erythematosus.

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Gadek JE et al. (1980) Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor.

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10.

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11.

Cicardi M et al. () Hereditary angioedema: an appraisal of 104 cases.

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12.

Quastel M et al. (1983) Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema.

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13.

Small P et al. (1983) Hereditary angioneurotic edema first observed as an epiglottiditis.

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14.

Schwarz S et al. (1981) Hormone binding globulin levels in patients with hereditary angiooedema during treatment with Danazol.

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15.

Duck SC et al. (1981) Danazol may cause female pseudohermaphroditism.

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16.

Gleich GJ et al. (1984) Episodic angioedema associated with eosinophilia.

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17.

Harrington TM et al. () Hereditary angioedema and coronary arteritis.

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18.

Gralnick HR et al. (1983) Danazol increases factor VIII and factor IX in classic hemophilia and Christmas disease.

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19.

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

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20.

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

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21.

None (2011) Therapeutic agents for hereditary angioedema.

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None (2010) Hereditary angioedema--therapies old and new.

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

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

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

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None (2008) Clinical practice. Hereditary angioedema.

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

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29.

None () Hereditary angioneurotic edema. I. Case reports and review of the literature.

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ROSEN FS et al. (1965) HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.

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31.

AUSTEN KF et al. (1965) DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT.

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32.

DONALDSON VH et al. (1964) ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE.

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DONALDSON VH et al. (1963) A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.

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34.

None (1961) Hereditary angioneurotic edema. Report of a case with gastrointestinal manifestations.

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35.

HEINER DC et al. (1957) Familial paroxysmal dysfunction of the autonomic nervous system (a periodic disease), often precipitated by emotional stress.

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36.

None (1961) Chronic familial giant urticaria.

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37.

Perricone R et al. (1992) Cystic ovaries in women affected with hereditary angioedema.

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38.

Gelfand JA et al. (1976) Treatment of hereditary angioedema with danazol. Reversal of clinical and biochemical abnormalities.

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39.

None (1978) The "cure" of an inherited disease.

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40.

Blumenthal MN et al. (1978) Lack of linkage between hereditary angioedema and the A and B loci of the HLA system.

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41.

Gelfand JA et al. (1979) Acquired C1 esterase inhibitor deficiency and angioedema: a review.

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42.

Stewart GJ et al. (1979) Hereditary angioedema: lack of close linkage with markers on chromosome 6, with data on other markers.

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43.

Robson EB et al. (1979) Linkage studies in hereditary angio-oedema.

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44.

Guarino S et al. (2006) Gonadal mosaicism in hereditary angioedema.

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45.

Johnson AM et al. (1971) C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema.

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46.

Verpy E et al. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

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47.

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48.

None (1973) The genetics of hereditary angioedema: a hypothesis.

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49.

Cicardi M et al. (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema.

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50.

Stoppa-Lyonnet D et al. (1987) Altered C1 inhibitor genes in type I hereditary angioedema.

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51.

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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52.

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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53.

Malbran A et al. (1988) Acquired angioedema: observations on the mechanism of action of autoantibodies directed against C1 esterase inhibitor.

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54.

None (1983) [Hereditary angioneurotic edema. Apropos of 185 patients and 40 families].

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55.

Sheffer AL et al. (1972) Tranexamic acid therapy in hereditary angioneurotic edema.

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56.

Frank MM et al. (1972) Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study.

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57.

None (1970) Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature.

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58.

Pickering RJ et al. (1969) Replacement therapy in hereditary angioedema. Successful treatment of two patients with fresh frozen plasma.

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59.

De Marchi M et al. (1973) Hereditary angioedema: report of a large kindred with a rare genetic variant of C1-esterase inhibitor.

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60.

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

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61.

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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62.

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

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63.

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

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64.

Jackson J et al. () An IgG autoantibody which inactivates C1-inhibitor.

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65.

Alsenz J et al. (1987) Autoantibody-mediated acquired deficiency of C1 inhibitor.

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66.

Chappatte O et al. (1988) Hereditary angioneurotic oedema and pregnancy. Case reports and review of the literature.

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67.

Laurent J et al. (1988) Ultrasonography in the diagnosis of hereditary angioneurotic oedema.

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68.

None (1989) Angioedema with acquired deficiency of the C1 inhibitor: a constellation of syndromes.

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69.

Agostoni A et al. (1992) Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients.

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70.

OMIM.ORG article

Omim 106100 external link
71.

Orphanet article

Orphanet ID 91378 external link
72.

Wikipedia article

Wikipedia EN (Hereditary_angioedema) external link
Update: Aug. 14, 2020
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