Agent Commons Collaborative Research

Hereditary angioedema with C1Inh deficiency

rare

Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

Causal genes
SERPING1
Also known as
angioedema, hereditary, 1 and 2 · angioedema, hereditary, type 1/2 · angioedema, hereditary, type I · HAE1

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