mRNA IDs | Primary Information | |
NM_000505.3 | Gene Symbol | F12 |
Protein Name | Coagulation factor xii (hageman factor) | |
Alternate Names | HAE3, HAEX, HAF | |
Gene Locus | 5q33-qter |
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Disease name | Characteristic / Associated features | Category | inheritance type |
Hereditary angioedema type III | Recurrent angioedema; Laryngeal edema; recurrent skin swelling; abdominal pain attacks; Upper airway obstruction; Normal plasma concentration of C1-inhibitor protein; Normal plasma concentration of C4 protein | Complement Deficiencies | Autosomal dominant |