Hypoplasminogenemia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.
|
16849641 |
2006 |
Hypoplasminogenemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three patients with severe hypoplasminogenemia and different plg gene mutations exhibited characteristic "abnormal" IEF band patterns when compared with IEF plg phenotypes A and B.
|
15269832 |
2004 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
|
10233898 |
1999 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
This study provides direct evidence that plasminogen deficiency is one cause of ligneous conjunctivitis and suggests that plasminogen-deficient mice may be an excellent model for the development of therapeutic strategies for the treatment of this debilitating disease.
|
9473227 |
1998 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, we found combinations of antithrombin deficiency/elevated Lp(a), hyperhomocysteinemia/Lp(a), deficiency of HCII/plasminogen, and plasminogen deficiency along with increased Lp(a) each in one.
|
10650845 |
1999 |
Hypoplasminogenemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
One healthy individual with homozygous plg gene polymorphism 504W studied so far exhibited low normal plg antigen and slightly decreased plg activity, suggesting that this polymorphism is associated with (mild) hypoplasminogenemia.
|
21537161 |
2011 |
Hypoplasminogenemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, while plasminogen deficiency was initially believed to be related to development of venous thromboembolic disease, more recent data suggest that decreased plasminogen levels may not, in and of themselves, increase the risk of thrombosis.
|
19141167 |
2008 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The connection between plasmin-dependent fibrinolysis, vascular patency, and tumor growth was further substantiated as the effect of plasminogen deficiency on tumor growth could be reverted by superimposing heterozygous fibrinogen deficiency on Plg(-/-) mice.
|
22815383 |
2012 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Extrahepatic synthesis of plasminogen in the human cornea is up-regulated by interleukins-1alpha and -1beta.
|
10215610 |
1999 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
An open-label phase 2/3 study of human Glu-plasminogen administered IV at 6.6 mg/kg every 2 to 4 days in 15 patients with congenital plasminogen deficiency is ongoing.
|
29321155 |
2018 |
Hypoplasminogenemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Plasmin generation was able to be detected in only one (23% plasminogen activity) of the five PLGD patients.
|
31469483 |
2019 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Ligneous conjunctivitis in plasminogen-deficient mice.
|
9473227 |
1998 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
An open-label phase 2/3 study of human Glu-plasminogen administered IV at 6.6 mg/kg every 2 to 4 days in 15 patients with congenital plasminogen deficiency is ongoing.
|
29321155 |
2018 |
Hypoplasminogenemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a patient with ligneous inflammation of her genital, middle ear, and oral mucosa that was associated with type-1 homozygous plasminogen deficiency due to a novel missense mutation in the plasminogen gene.
|
15213608 |
2004 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders.
|
9375744 |
1997 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Plasminogen (plg) deficiency has been classified as (i) hypoplasminogenemia or 'true' type I plg deficiency, and (ii) dysplasminogenemia, also called type II plg deficiency.
|
17900274 |
2007 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency.
|
9834305 |
1998 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.
|
9242524 |
1997 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Pulmonary involvement in a child with ligneous conjunctivitis and homozygous type I plasminogen deficiency.
|
11477736 |
2001 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mice with a combined deficiency in FVIII and plasminogen displayed no phenotypic differences relative to mice with single FVIII or plasminogen deficiency.
|
30459211 |
2018 |
Hypoplasminogenemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although plasminogen is a key protein in fibrinolysis and several mutations in the plasminogen gene (PLG) have been identified that result in plasminogen deficiency, there are conflicting reports to associate it with the risk of thrombosis.
|
27976734 |
2016 |
Hypoplasminogenemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The proposita of family B, referred for superficial thrombophlebitis, had low plasminogen levels (activity 55% and antigen 53%) and APC resistance (APC-SR = 1.5) whereas the asymptomatic mother and the brother had isolated APC resistance (APC-SR = 1.62 and 1.8, respectively) and the asymptomatic father isolated plasminogen deficiency (activity 61% and antigen 62%).
|
9544982 |
1998 |
Hypoplasminogenemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the K19E mutation in the plasminogen gene is a common cause of hypoplasminogenaemia in Scotland, with an estimated prevalence of around 0.14%.
|
12945885 |
2003 |
Hypoplasminogenemia
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.
|
16849641 |
2006 |