Complement Deficiencies
Gene: SERPING1
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
gene: SERPING1 was added gene: SERPING1 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SERPING1 was set to Unknown