Hereditary angioedema with C1Inh deficiency
Hereditary angioedema with C1Inh deficiency
Definition
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 — per MONDO