Hereditary angioedema with C1Inh deficiency

MONDO:0033946

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.

Also known as: angioedema, hereditary, 1 and 2, angioedema, hereditary, type 1/2, C1 esterase inhibitor, deficiency of, HAE1, angioedema, hereditary, type 1, angioedema, hereditary, type 2, angioedema, hereditary, type I, angioneurotic edema, hereditary

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