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: C4727002
Disease: Chronic Hemolysis
Chronic Hemolysis
0.330 Biomarker disease GENOMICS_ENGLAND Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. 25716358 2015
CUI: C4727002
Disease: Chronic Hemolysis
Chronic Hemolysis
0.330 GeneticVariation disease BEFREE Identification of CD59 p.Cys89Tyr mutation in 5 patients from North-African Jewish origin presenting with chronic inflammatory demyelinating polyradiculoneuropathy like disease and chronic hemolysis, led us to reinvestigate an unsolved disease in 2 siblings from the same origin who died 17 years ago. 26233519 2015
CUI: C4727002
Disease: Chronic Hemolysis
Chronic Hemolysis
0.330 GeneticVariation disease BEFREE Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. 30794663 2019
CUI: C4727002
Disease: Chronic Hemolysis
Chronic Hemolysis
0.330 GeneticVariation disease BEFREE We recently described a primary homozygous Cys89Tyr congenital nonfunctioning CD59 in humans with clinical manifestation in infancy, associated with chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neuropathy. 29929138 2018