" /> Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy - CISMeF





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;

Prefixed ID : #612300;

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02/05/2025


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