Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy - CISMeF
Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathyOMIM Phenotype
Preferred Label : Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy;
Symbol : HACD59;
CISMeF acronym : HACD59;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cd59 deficiency;
Description : CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal
recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy,
often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and
hyporeflexia. Immunosuppressive treatment may result in some clinical improvement
(summary by Nevo et al., 2013).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the CD59 antigen gene (CD59, 107271.0001);
Laboratory abnormalities : Increased CSF protein; Absence of CD59 expression on red cells;