Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy (HACD59)

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OMIM 57 612300 Orphanet 59 ORPHA169464 ICD10 via Orphanet 34 D84.1 MedGen 42 C2676767

MeSH 44 D000745 SNOMED-CT via HPO 69 258211005 302226006 42345000 42658009 349006 37280007 61261009 74035001 44695005 713514005 1963002 more UMLS 73 C2676767

OMIM : ⁵⁷ 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). (612300)

MalaCards based summary : Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy, also known as cd59 deficiency, is related to acute promyelocytic leukemia and leukemia, and has symptoms including hand and foot weakness An important gene associated with Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy is CD59 (CD59 Molecule (CD59 Blood Group)). Affiliated tissues include skeletal muscle, brain and endothelial, and related phenotypes are skeletal muscle atrophy and hemolytic anemia

UniProtKB/Swiss-Prot : ⁷⁵ Hemolytic anemia, CD59-mediated, with or without polyneuropathy: An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia.

Clinical features from OMIM:

612300

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy

Search GEO for disease gene expression data for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy.