PLG, plasminogen, 5340

N. diseases: 586; N. variants: 34
Disease: Hypoplasminogenemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease BEFREE Although fibrinogen-deficient mice or mice with combined deficiencies of plasminogen and fibrinogen had decreased EAE severity, they did not exhibit the delay in EAE disease onset, as seen in mice with plasminogen deficiency alone. 28275164 2017
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 GermlineCausalMutation disease ORPHANET Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. 16849641 2006
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. 16849641 2006
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Pulmonary involvement in a child with ligneous conjunctivitis and homozygous type I plasminogen deficiency. 11477736 2001
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. 10233898 1999
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Extrahepatic synthesis of plasminogen in the human cornea is up-regulated by interleukins-1alpha and -1beta. 10215610 1999
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Ligneous conjunctivitis in plasminogen-deficient mice. 9473227 1998
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency. 9834305 1998
CUI: C0398621
Disease: Hypoplasminogenemia
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
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Healing of corneal epithelial defects in plasminogen- and fibrinogen-deficient mice. 9501859 1998
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		0.700 Biomarker disease CLINGEN Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders. 9375744 1997