Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary Angioedema 3

Hereditary angioedema type 3 is an autosomal dominant disorder that is caused by mutations of the F12 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
Hereditary Angioedema 2
Hereditary Angioedema 3
F12

References:

1.

Binkley KE et. al. (2000) Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema.

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2.

Dewald G et. al. (2006) Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

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3.

Cichon S et. al. (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.

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4.

Duan QL et. al. (2009) Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.

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5.

Bork K et. al. (2000) Hereditary angioedema with normal C1-inhibitor activity in women.

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6.

Kränke B et. al. (2000) Hereditary angioedema and normal C1-inhibitor activity in women.

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Update: Sept. 26, 2018