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path(HP:"Paroxysmal nocturnal hemoglobinuria")

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Entity

Name
Paroxysmal nocturnal hemoglobinuria
Namespace
HP
Namespace Version
2017-10-05
Namespace URL
https://arty.scai.fraunhofer.de/artifactory/bel/namespace/hp/hp-20171108.belns

Appears in Networks 1

Heme Curation v0.0.1-dev

Mechanistic knowledge surrounding heme

In-Edges 11

a(MESH:eculizumab) decreases path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

Inhibition of the terminal complement cascade by eculizumab (inhibits the cleavage of C5 into C5a und C5b and thus the formation of the membrane attack complex 8, MAC C5b-C9) for the treatment of hemolytic paroxymal nocturnal hemoglobinuria (PNH) significantly prevented PNH-related symptoms in patients including abnormal thrombophilia, red blood cell destruction, and the extent of hemolysis [76]. PubMed:29956069

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Liver
MeSH
Sepsis
Text Location
Review

bp(GO:"platelet activation") positiveCorrelation path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

The average mean fluorescence (MF) for CD61 staining of was slightly reduced in patients with primary Cys89Tyr CD59 deficiency and PNH as compared to controls. However, the average MF for CD62P expression in the healthy individuals was 38.3 ± 3.1 compared to 48.5 ± 4.7 in patients with primary Cys89Tyr CD59 deficiency (p < 0.0085) and 54.0 ± 4.2 in patients with PNH (p < 0.0013), indicating a significantly more activated platelet phenotype in both the patients with PNH and those with primary Cys89Tyr CD59 deficiency. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

p(HGNC:HBB) positiveCorrelation path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

In cases of congenital hemoglobinopathies such as sickle cell disease, deficiencies in complement system regulators such as paroxysmal nocturnal hemoglobinuria, and many other disorders, erythrocytes can lyse and liberate large quantities of hemoglobin. PubMed:26875449

Appears in Networks:
Annotations
Text Location
Review

p(HGNC:CD59) negativeCorrelation path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

CD59 deficiency is a common finding in adult patients with PNH, which is characterized by clonal expansion of hematopoietic stem cells that have acquired a mutation in the PIGA gene (phosphatidylinositol glycan anchor biosynthesis, class A). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

path(HP:"Arterial thrombosis") positiveCorrelation path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

Ziakas et al. [38] described 38 reports of arterial thrombosis, mainly in the central nervous system or coronary arteries in PNH patients. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Coronary Vessels
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

path(HP:"Hemolytic anemia") association path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

Inhibition of the terminal complement cascade by eculizumab (inhibits the cleavage of C5 into C5a und C5b and thus the formation of the membrane attack complex 8, MAC C5b-C9) for the treatment of hemolytic paroxymal nocturnal hemoglobinuria (PNH) significantly prevented PNH-related symptoms in patients including abnormal thrombophilia, red blood cell destruction, and the extent of hemolysis [76]. PubMed:29956069

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Liver
MeSH
Sepsis
Text Location
Review

path(MESH:Hemolysis) association path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

Inhibition of the terminal complement cascade by eculizumab (inhibits the cleavage of C5 into C5a und C5b and thus the formation of the membrane attack complex 8, MAC C5b-C9) for the treatment of hemolytic paroxymal nocturnal hemoglobinuria (PNH) significantly prevented PNH-related symptoms in patients including abnormal thrombophilia, red blood cell destruction, and the extent of hemolysis [76]. PubMed:29956069

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Liver
MeSH
Sepsis
Text Location
Review

path(MESH:Thrombophilia) association path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

Inhibition of the terminal complement cascade by eculizumab (inhibits the cleavage of C5 into C5a und C5b and thus the formation of the membrane attack complex 8, MAC C5b-C9) for the treatment of hemolytic paroxymal nocturnal hemoglobinuria (PNH) significantly prevented PNH-related symptoms in patients including abnormal thrombophilia, red blood cell destruction, and the extent of hemolysis [76]. PubMed:29956069

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Liver
MeSH
Sepsis
Text Location
Review

path(MESH:Thrombosis) association path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

Multiple haemolytic disorders and therapeutic interventions produce substantial intravascular haemolysis. Examples include PNH, SCD, thalassaemias, glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis and stomatocytosis, pyruvate kinase deficiency, autoimmune haemolytic anaemia, microangiopathies, acute haemolytic transfusion reactions, mechanical circulatory support [e.g., left ventricular assist device (LVAD)/extracorporeal membrane oxygenation (ECMO)], RBC transfusions and infusions of RBC substitutes. These disorders, therapies and procedures are also associated with an increased risk of thrombosis. PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
MeSH
Plasma
MeSH
Urine
Text Location
Review

path(MESH:Thrombosis) positiveCorrelation path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

Thrombosis is the prognostic factor with the greatest effect on survival in paroxysmal nocturnal hemoglobinuria (PNH) patients [1, 2]. PubMed:29929138

Appears in Networks:
Annotations
Text Location
Introduction

path(MESH:Thrombosis) positiveCorrelation path(HP:"Paroxysmal nocturnal hemoglobinuria") View Subject | View Object

In summary, thrombosis is an extremely important prognostic factor both in PNH and in primary Cys89Tyr nonfunctioning CD59. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Coronary Vessels
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

Out-Edges 18

path(HP:"Paroxysmal nocturnal hemoglobinuria") decreases p(HGNC:HP) View Subject | View Object

Thus, in severe haemolytic diseases, such as paroxysmal nocturnal haemoglobinuria (PNH) and sickle cell disease (SCD), serum haptoglobin is typically undetectable and plasma haemoglobin is elevated (Tabbara, 1992). PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") increases p(HGNC:HBB) View Subject | View Object

Thus, in severe haemolytic diseases, such as paroxysmal nocturnal haemoglobinuria (PNH) and sickle cell disease (SCD), serum haptoglobin is typically undetectable and plasma haemoglobin is elevated (Tabbara, 1992). PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") positiveCorrelation p(HGNC:HBB) View Subject | View Object

In cases of congenital hemoglobinopathies such as sickle cell disease, deficiencies in complement system regulators such as paroxysmal nocturnal hemoglobinuria, and many other disorders, erythrocytes can lyse and liberate large quantities of hemoglobin. PubMed:26875449

Appears in Networks:
Annotations
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") increases path(MESH:Hemolysis) View Subject | View Object

Multiple haemolytic disorders and therapeutic interventions produce substantial intravascular haemolysis. Examples include PNH, SCD, thalassaemias, glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis and stomatocytosis, pyruvate kinase deficiency, autoimmune haemolytic anaemia, microangiopathies, acute haemolytic transfusion reactions, mechanical circulatory support [e.g., left ventricular assist device (LVAD)/extracorporeal membrane oxygenation (ECMO)], RBC transfusions and infusions of RBC substitutes. These disorders, therapies and procedures are also associated with an increased risk of thrombosis. PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
MeSH
Plasma
MeSH
Urine
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") increases path(MESH:Hemolysis) View Subject | View Object

In PNH, uncontrolled complement activity leads to systemic complications, principally through intravascular haemolysis and platelet activation. PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
MeSH
Plasma
MeSH
Urine
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") association path(MESH:Hemolysis) View Subject | View Object

Inhibition of the terminal complement cascade by eculizumab (inhibits the cleavage of C5 into C5a und C5b and thus the formation of the membrane attack complex 8, MAC C5b-C9) for the treatment of hemolytic paroxymal nocturnal hemoglobinuria (PNH) significantly prevented PNH-related symptoms in patients including abnormal thrombophilia, red blood cell destruction, and the extent of hemolysis [76]. PubMed:29956069

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Liver
MeSH
Sepsis
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") association path(MESH:Thrombosis) View Subject | View Object

Multiple haemolytic disorders and therapeutic interventions produce substantial intravascular haemolysis. Examples include PNH, SCD, thalassaemias, glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis and stomatocytosis, pyruvate kinase deficiency, autoimmune haemolytic anaemia, microangiopathies, acute haemolytic transfusion reactions, mechanical circulatory support [e.g., left ventricular assist device (LVAD)/extracorporeal membrane oxygenation (ECMO)], RBC transfusions and infusions of RBC substitutes. These disorders, therapies and procedures are also associated with an increased risk of thrombosis. PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
MeSH
Plasma
MeSH
Urine
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") positiveCorrelation path(MESH:Thrombosis) View Subject | View Object

Thrombosis is the prognostic factor with the greatest effect on survival in paroxysmal nocturnal hemoglobinuria (PNH) patients [1, 2]. PubMed:29929138

Appears in Networks:
Annotations
Text Location
Introduction

path(HP:"Paroxysmal nocturnal hemoglobinuria") positiveCorrelation path(MESH:Thrombosis) View Subject | View Object

In summary, thrombosis is an extremely important prognostic factor both in PNH and in primary Cys89Tyr nonfunctioning CD59. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Coronary Vessels
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

path(HP:"Paroxysmal nocturnal hemoglobinuria") increases bp(GO:"complement activation") View Subject | View Object

In PNH, uncontrolled complement activity leads to systemic complications, principally through intravascular haemolysis and platelet activation. PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
MeSH
Plasma
MeSH
Urine
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") increases bp(MESH:"Platelet Activation") View Subject | View Object

In PNH, uncontrolled complement activity leads to systemic complications, principally through intravascular haemolysis and platelet activation. PubMed:25307023

Appears in Networks:
Annotations
Cell Ontology (CL)
macrophage
MeSH
Plasma
MeSH
Urine
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") negativeCorrelation p(HGNC:CD59) View Subject | View Object

CD59 deficiency is a common finding in adult patients with PNH, which is characterized by clonal expansion of hematopoietic stem cells that have acquired a mutation in the PIGA gene (phosphatidylinositol glycan anchor biosynthesis, class A). PubMed:29929138

Appears in Networks:
Annotations
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Introduction

path(HP:"Paroxysmal nocturnal hemoglobinuria") increases a(MESH:"Cell-Derived Microparticles") View Subject | View Object

We have assessed the presence of MPs in four patients with primary Cys89Tyr mutation in CD59 and two PNH patients, as well as in four healthy donors. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

path(HP:"Paroxysmal nocturnal hemoglobinuria") increases a(MESH:"Cell-Derived Microparticles") View Subject | View Object

In summary, patients with primary Cys89Tyr mutation in CD59 showed about 9–10-fold increase in the number of MPs compared to controls and slightly but significantly increased numbers when com pared to PNH patients. The origin of MPs was primarily RBCs and to a much lesser extent platelets and neutrophils. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

path(HP:"Paroxysmal nocturnal hemoglobinuria") positiveCorrelation bp(GO:"platelet activation") View Subject | View Object

The average mean fluorescence (MF) for CD61 staining of was slightly reduced in patients with primary Cys89Tyr CD59 deficiency and PNH as compared to controls. However, the average MF for CD62P expression in the healthy individuals was 38.3 ± 3.1 compared to 48.5 ± 4.7 in patients with primary Cys89Tyr CD59 deficiency (p < 0.0085) and 54.0 ± 4.2 in patients with PNH (p < 0.0013), indicating a significantly more activated platelet phenotype in both the patients with PNH and those with primary Cys89Tyr CD59 deficiency. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
Cell Ontology (CL)
neutrophil
Cell Ontology (CL)
platelet
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Results

path(HP:"Paroxysmal nocturnal hemoglobinuria") positiveCorrelation path(HP:"Arterial thrombosis") View Subject | View Object

Ziakas et al. [38] described 38 reports of arterial thrombosis, mainly in the central nervous system or coronary arteries in PNH patients. PubMed:29929138

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Coronary Vessels
MeSH
Hemoglobinuria, Paroxysmal
Text Location
Discussion

path(HP:"Paroxysmal nocturnal hemoglobinuria") association path(MESH:Thrombophilia) View Subject | View Object

Inhibition of the terminal complement cascade by eculizumab (inhibits the cleavage of C5 into C5a und C5b and thus the formation of the membrane attack complex 8, MAC C5b-C9) for the treatment of hemolytic paroxymal nocturnal hemoglobinuria (PNH) significantly prevented PNH-related symptoms in patients including abnormal thrombophilia, red blood cell destruction, and the extent of hemolysis [76]. PubMed:29956069

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Liver
MeSH
Sepsis
Text Location
Review

path(HP:"Paroxysmal nocturnal hemoglobinuria") association path(HP:"Hemolytic anemia") View Subject | View Object

Inhibition of the terminal complement cascade by eculizumab (inhibits the cleavage of C5 into C5a und C5b and thus the formation of the membrane attack complex 8, MAC C5b-C9) for the treatment of hemolytic paroxymal nocturnal hemoglobinuria (PNH) significantly prevented PNH-related symptoms in patients including abnormal thrombophilia, red blood cell destruction, and the extent of hemolysis [76]. PubMed:29956069

Appears in Networks:
Annotations
Cell Ontology (CL)
erythrocyte
MeSH
Liver
MeSH
Sepsis
Text Location
Review

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.