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Primary CD59 deficiency

Synonyms
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy; Cd59 deficiency; HEMOLYTIC ANEMIA, CD59-MEDIATED
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 16.3A5, 1F5, EJ16, EJ30, EL32, G344, HRF-20, HRF20, MAC-IP, MACIF, MEM43, MIC11, MIN1, MIN2, MIN3, MIRL, MSK21, p18-20, CD59
    Summary: CD59 molecule (CD59 blood group)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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