Conditions / Genetic
hereditary angioedema type I
info · Genetic
A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.
Signs and symptoms
- Peripheral axonal neuropathy
- Hypoesthesia
- Reduced circulating CH50 activity
- Decreased circulating complement C4 concentration
- Periorbital edema
- Axonal degeneration
- Muscle weakness
- Autoimmunity
- Diarrhea
- Intestinal edema
Also known as: hereditary angioedema type II