Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5555
Gene Symbol: PRH2
PRH2
0.010 Biomarker disease BEFREE Other ethiologies are idiopathic forms or purpura neonatorum, which is marked by deficiency of Protein-C. PF is caused by micro-embolism of the vascular system, followed by quickly spreading necroses of skin and different organs.Modern concepts of intensive care treatment of the acute phase of this disease and early surgical intervention lead to a rising number of surviving patients requiring limb salvage.Aim of this study is to evaluate a possible lower morbidity and the grade of lower loss of function because of early surgical intervention. 31524150 2019
Entrez Id: 5554
Gene Symbol: PRH1
PRH1
0.010 Biomarker disease BEFREE Other ethiologies are idiopathic forms or purpura neonatorum, which is marked by deficiency of Protein-C. PF is caused by micro-embolism of the vascular system, followed by quickly spreading necroses of skin and different organs.Modern concepts of intensive care treatment of the acute phase of this disease and early surgical intervention lead to a rising number of surviving patients requiring limb salvage.Aim of this study is to evaluate a possible lower morbidity and the grade of lower loss of function because of early surgical intervention. 31524150 2019
Entrez Id: 10544
Gene Symbol: PROCR
PROCR
0.010 AlteredExpression disease BEFREE Finally, we showed that this ADAM10-mediated shedding of EPCR induced by the meningococcal interaction with endothelial cells was responsible for an impaired activation of Protein C. This work unveils for the first time a direct link between meningococcal adhesion to endothelial cells and a severe dysregulation of coagulation, and potentially identifies new therapeutic targets for meningococcal purpura fulminans. 29630665 2018
Entrez Id: 102
Gene Symbol: ADAM10
ADAM10
0.010 Biomarker disease BEFREE Finally, we showed that this ADAM10-mediated shedding of EPCR induced by the meningococcal interaction with endothelial cells was responsible for an impaired activation of Protein C. This work unveils for the first time a direct link between meningococcal adhesion to endothelial cells and a severe dysregulation of coagulation, and potentially identifies new therapeutic targets for meningococcal purpura fulminans. 29630665 2018
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
0.010 Biomarker disease BEFREE In this unselected cohort of paediatric patients with symptomatic TE the overall prevalence of PCD was 7·4%; 1·5% presented with neonatal purpura fulminans. 25039884 2014
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
0.010 Biomarker disease BEFREE In this unselected cohort of paediatric patients with symptomatic TE the overall prevalence of PCD was 7·4%; 1·5% presented with neonatal purpura fulminans. 25039884 2014
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3
0.010 Biomarker disease BEFREE In this unselected cohort of paediatric patients with symptomatic TE the overall prevalence of PCD was 7·4%; 1·5% presented with neonatal purpura fulminans. 25039884 2014
Entrez Id: 5092
Gene Symbol: PCBD1
PCBD1
0.010 Biomarker disease BEFREE In this unselected cohort of paediatric patients with symptomatic TE the overall prevalence of PCD was 7·4%; 1·5% presented with neonatal purpura fulminans. 25039884 2014
Entrez Id: 324
Gene Symbol: APC
APC
0.010 Biomarker disease BEFREE APC was safe and effective for treatment of PF in severe genetic protein C deficiency. 14707707 2004
Entrez Id: 2147
Gene Symbol: F2
F2
0.020 GeneticVariation disease BEFREE Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations. 12601492 2003
Entrez Id: 2147
Gene Symbol: F2
F2
0.020 GeneticVariation disease BEFREE The authors describe a patient heterozygous for prothrombin G20210A who developed purpura fulminans and extensive venous thrombosis secondary to acquired protein S deficiency. 10599098 2000
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
0.030 Biomarker disease BEFREE Here the authors report a case of patient with severe PS deficiency associated with the FVL mutation who has had purpura fulminans since the age of 10 days. 12687747 2003
Entrez Id: 2153
Gene Symbol: F5
F5
0.030 GeneticVariation disease BEFREE Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations. 12601492 2003
Entrez Id: 2153
Gene Symbol: F5
F5
0.030 GeneticVariation disease BEFREE The interaction and the contribution of recently described mutations such as factor V Leiden and prothrombin G20210A to the development and progression of postinfectious purpura fulminans and venous thrombosis is not known. 10599098 2000
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
0.030 Biomarker disease BEFREE She was reported in 1990 as the first case with homozygous PS deficiency and neonatal purpura fulminans. 10063989 1999
Entrez Id: 2153
Gene Symbol: F5
F5
0.030 GeneticVariation disease BEFREE We present 2 children from 2 unrelated Arab families with purpura fulminans who were double heterozygotes for factor V Leiden inherited from their fathers and protein S deficiency inherited from their mothers. 9241737 1997
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
0.030 Biomarker disease BEFREE This report describes the molecular genetic abnormality of a severe PS deficient child who developed purpura fulminans shortly after birth. 7974339 1994
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
0.030 Biomarker disease BEFREE One infant was treated every 48 hr for 2 years without significant purpura fulminans or DIC complications. 1503096 1992
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
0.030 Biomarker disease BEFREE Homozygous PC deficiency, a rare but fatal hereditary condition, manifests itself with massive DIC and purpura fulminans in the newborn period. 2103316 1990
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
0.030 Biomarker disease BEFREE Although the pathogenesis is not fully understood, the DIC in purpura fulminans appears to involve the skin selectively. 2149204 1990
Entrez Id: 5091
Gene Symbol: PC
PC
0.070 Biomarker disease BEFREE A male patient diagnosed with severe congenital protein C (PC) deficiency during the neonatal period was treated with long-term warfarin but frequently developed purpura fulminans and bleeding. 30835920 2019
Entrez Id: 5091
Gene Symbol: PC
PC
0.070 GeneticVariation disease BEFREE Protein C (PC) deficiency is a heritable or acquired risk factor for thrombophilia, with presentations varying from asymptomatic to venous thromboembolism to neonatal purpura fulminans, a life-threatening disorder. 30702334 2019
Entrez Id: 5091
Gene Symbol: PC
PC
0.070 AlteredExpression disease BEFREE Purpura fulminans (PF) is a neonatal presentation of homozygous or compound heterozygous protein C (PC) deficiency; infants who are diagnosed with it are determined to have a major defect in coagulation regulation which is associated with undetectable levels of PC. 31521534 2019
Entrez Id: 5091
Gene Symbol: PC
PC
0.070 GeneticVariation disease BEFREE This case highlights the course of PF due to acquired PC deficiency in a newborn treated with PC concentrate which is rarely described in the literature. 29683961 2018
Entrez Id: 5091
Gene Symbol: PC
PC
0.070 GeneticVariation disease BEFREE Sixteen newborns presented with PF (n = 11, 69%), intracranial thromboembolism and hemorrhage (n = 13, 81%), or both (n = 8, 50%), with most showing a plasma PC activity of <10%. 28111891 2017