Complement Deficiencies

Gene: SERPING1

Green List (high evidence)

Hereditary angioedema-1 and -2 (HAE1 and HAE2) are caused by mutation in the SERPING1 (C1HN) gene. The disorders are clinically indistinguishable: both are characterized by episodic local subcutaneous oedema and submucosal oedema involving the upper respiratory and gastrointestinal tracts. HAE1, representing 85% of patients, is characterized by serum levels of C1NH less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). HAE2 is characterized by normal or even elevated C1NH levels, but the protein is nonfunctional.

Well established gene-disease association.

Created: 8 Apr 2022, 10:35 a.m. | Last Modified: 8 Apr 2022, 10:35 a.m.

Panel Version: 0.12787

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Angioedema, hereditary, 1 and 2, MIM#106100; Complement component 4, partial deficiency of, MIM#120790

Publications

• 35386643
• 31517426
• 29753808