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.
Synonyms: C1 Esterase Inhibitor, Deficiency Of, Angioedema, Hereditary, Type II, Hereditary Angioedema Types I and II, Hereditary Angioedema Type I, Hereditary Angioedema Type II, Angioedema, Hereditary, Types I and II, Deficiency of C1 Esterase Inhibitor, Angioedema, Hereditary, Type I, Hereditary Angioedema Type 1
Instance information
comment
2010
identifier
D056829