/hereditary angioedema with C1Inh deficiency

hereditary angioedema with C1Inh deficiency

Rare Disease

MONDO:0033946

Also Known As

angioedema, hereditary, 1 and 2angioedema, hereditary, type 1/2C1 esterase inhibitor, deficiency ofHAE1angioedema, hereditary, type 1angioedema, hereditary, type 2angioedema, hereditary, type Iangioneurotic edema, hereditary

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.