|
Angioedemas, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Most disease-causing variants lie within the SERPING1 gene, while FXII12, PLG and ANGPT1 gene variants are also reported to associate with HAE.
|
30827947 |
2019 |
|
Angioedemas, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The results support a role of PLG K330E in the pathogenesis of HAE and suggest that genetic testing be considered as an approach to diagnose patients with unexplained angioedema.
|
31131012 |
2019 |
|
Angioedemas, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In three affected and one yet unaffected member of the family, we were then able to identify the c.988A > G (also termed c.1100A > G) mutation in the <i>plasminogen</i> (<i>PLG)</i> gene, which has recently been described in several families with HAE.
|
30809376 |
2019 |
|
Angioedemas, Hereditary
|
0.200 |
Biomarker
|
disease |
BEFREE |
This is amongst others supported by findings in subtypes of HAE that are caused by gain-of-function mutations in the genes that respectively encode factor XII or plasminogen, as well as clinical experience with the antifibrinolytic agents in HAE.
|
31507620 |
2019 |
|
Angioedemas, Hereditary
|
0.200 |
Biomarker
|
disease |
BEFREE |
This latter variant is diagnosed based on clinical features, family history, or molecular genetic testing for mutations in F12, ANGPT1,or PLG.The diagnosis of HAE is often delayed due to a general unfamiliarity with this orphan disease.
|
31167185 |
2019 |
|
Angioedemas, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary angioedema with a mutation in the PLG gene is a novel type of HAE.
|
28795768 |
2018 |
|
Angioedemas, Hereditary
|
0.200 |
Biomarker
|
disease |
BEFREE |
IL-1 and TNF-α stimulate release of urokinase, which can convert plasminogen to plasmin and represents a possible source for plasmin generation in all types of hereditary angioedema, but particularly hereditary angioedema with normal C1 inhibitor with a factor XII mutation.
|
27826093 |
2017 |
|
Angioedemas, Hereditary
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, our findings indicate that plasmin modulates disease activity in patients with FXII-HAE.
|
27130860 |
2016 |
|
Angioedemas, Hereditary
|
0.200 |
Biomarker
|
disease |
BEFREE |
We have reported elevated baseline levels of bradykinin, C4a, and plasmin-alpha2-antiplasmin complexes in the plasma of patients with HAE compared with the plasma of healthy controls.
|
20143645 |
2010 |
|
Angioedemas, Hereditary
|
0.200 |
Biomarker
|
disease |
BEFREE |
Generation of plasmin during acute attacks of hereditary angioedema.
|
8426080 |
1993 |
|
Angioedemas, Hereditary
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
C1(-)-inhibitor (C1(-)-INH) proteins from normal persons and members of eight different kindred with dysfunctional C1(-)-INH proteins associated with hereditary angioneurotic edema (HANE) were compared with respect to their inhibitory activity against purified preparations of C1s-, plasma kallikrein, activated forms of Hageman factor, and plasmin.
|
3965500 |
1985 |
|
Angioedemas, Hereditary
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Elevated plasmin-alpha 2-antiplasmin complex levels in hereditary angioedema: evidence for the in vivo efficiency of the intrinsic fibrinolytic system.
|
2935973 |
1985 |
|
Angioedemas, Hereditary
|
0.200 |
Biomarker
|
disease |
BEFREE |
Specific functional and immunologic assay of plasma plasminogen in hereditary angioedema, in hereditary angioedema treated with tranexamic acid, and in normal subjects.
|
621394 |
1978 |
|
Angioedemas, Hereditary
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|