CD59, CD59 molecule (CD59 blood group), 966

N. diseases: 262; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 CausalMutation disease CLINVAR
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease BEFREE Seven cases of an isolated CD59 deficiency due to three distinct null alleles of the CD59 gene have been published so far. 24383981 2014
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 Biomarker disease GENOMICS_ENGLAND Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. 25716358 2015
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 Biomarker disease CTD_human
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 AlteredExpression disease BEFREE Northern blotting and reverse transcription-PCR revealed that the main cause of the DAF and/or CD59 deficiency is the failure of mRNA expression in most of the cell lines, except in Ramos(-) in which sufficient mRNA for DAF and CD59 was produced. 8615796 1996
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease CLINVAR
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GermlineCausalMutation disease ORPHANET CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59. 23149847 2013
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 Biomarker disease GENOMICS_ENGLAND Targeted therapy with eculizumab for inherited CD59 deficiency. 24382084 2014
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease UNIPROT Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. 1382994 1992
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease BEFREE CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59. 23149847 2013
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease UNIPROT CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59. 23149847 2013
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease BEFREE In this review we describe differences and similarities in the pathogenesis and clinical manifestations of PNH and primary CD59 Cys89Tyr mutation with the aim of tracking the contribution of CD59 deficiency to the pathophysiology and perhaps deepening our understanding of both diseases. 25818314 2015
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 Biomarker disease GENOMICS_ENGLAND Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. 1382994 1992
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 Biomarker disease GENOMICS_ENGLAND CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59. 23149847 2013
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease BEFREE While paroxysmal nocturnal hemoglobinuria (PNH) results from the combined deficiency of the regulatory complement proteins CD55 and CD59, which is caused by somatic mutation of a common membrane anchor, isolated CD55 or CD59 deficiency is associated with the CHAPLE syndrome and polyneuropathy, respectively. 31421540 2019
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 Biomarker disease BEFREE The severe clinical symptoms of inherited CD59 deficiency confirm the importance of CD59 as essential complement regulatory protein for protection of cells against complement attack, in particular protection of hematopoietic cells and human neuronal tissue. 26043388 2015
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 GeneticVariation disease BEFREE PNH's etiopathogenesis is based on acquired mutations that lead to the reduction or absence of CD55 and CD59 complement regulators, which are responsible for some of the disease's major clinical features, like intravascular hemolysis, cytopenias and thrombosis. 29486674 2018
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 Biomarker disease BEFREE While paroxysmal nocturnal hemoglobinuria (PNH) results from the combined deficiency of the regulatory complement proteins CD55 and CD59, which is caused by somatic mutation of a common membrane anchor, isolated CD55 or CD59 deficiency is associated with the CHAPLE syndrome and polyneuropathy, respectively. 31421540 2019
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 GeneticVariation disease BEFREE To clarify some characteristics of phosphatidylinositol glycan-class A gene (PIG-A) mutations in aplastic anemia (AA) and myelodysplastic syndrome (MDS) patients compared with those in paroxysmal nocturnal hemoglobinuria (PNH) patients, we investigated PIG-A mutations in CD59- granulocytes and CD48- monocytes from seven AA, eight MDS, and 11 PNH Japanese patients. 16467865 2006
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 Biomarker disease BEFREE A GPI-anchoring deficient complement-sensitive B-cell line derived from a PNH patient was successfully transduced with CD59-TM, resulting in surface expression of the protein. 7522635 1994
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 Biomarker disease GENOMICS_ENGLAND Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. 25716358 2015
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 Biomarker disease BEFREE A group O patient with a 9% CD59-deficient PNH clone was sensitized with an IgM anti-I. 29296844 2017
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 Biomarker disease BEFREE Moreover, they lack surface expression of complement regulatory proteins such as DAF (CD55) and CD59, that are the most important glycosylphosphatidylinositol (GPI)-anchored membrane proteins defective in haemopoietic cells of patients with PNH. 7524616 1994
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 Biomarker disease BEFREE It is suggested that CD59 loss represents a major arterial prothrombotic factor in PNH and additional diseases. 29929138 2018
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.500 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic disease caused by expansion of a stem cell that harbors a somatic mutation in <i>PIGA</i> PIGA mutant blood cells are deficient in the complement regulator proteins CD55 and CD59, making them susceptible to intravascular hemolysis due to a failure to regulate the APC on erythrocytes. 30504334 2018