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Hereditary Angioedema 1

Hereditary angioedema type 1 is an autosomal dominant disorder of complement regulation that is caused by truncating mutations of the SERPING1 (formerly C1NH) gene. The clinical features are episodic and localized subcutaneous and submucosal edema. The latter may include the respiratory and the upper gastrointestinal tracts.

Systematic

Hereditary Angioedema
Hereditary Angioedema 1
SERPING1
Hereditary Angioedema 2
Hereditary Angioedema 3

References:

1.

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2.

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3.

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11.

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12.

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13.

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30.

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31.

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

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38.

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

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39.

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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40.

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41.

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42.

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

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43.

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

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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.

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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51.

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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52.

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53.

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54.

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

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55.

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56.

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57.

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

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58.

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

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59.

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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60.

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

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61.

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

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62.

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

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63.

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

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64.

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65.

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

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66.

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

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67.

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

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68.

OMIM.ORG article

Omim 106100 external link
Update: Aug. 14, 2020
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