CD59, CD59 molecule (CD59 blood group), 966

N. diseases: 262; N. variants: 7
Disease: CD59 Deficiency ×
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 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 GENOMICS_ENGLAND Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. 25716358 2015
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 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: 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 Targeted therapy with eculizumab for inherited CD59 deficiency. 24382084 2014
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 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 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 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 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 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 CausalMutation disease CLINVAR
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 Biomarker disease CTD_human
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.760 GeneticVariation disease CLINVAR