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GTR Home > Conditions/Phenotypes > Complement component C1s deficiency

Summary

A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. [from MONDO]

Available tests

19 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: EDSPD2, C1S
    Summary: complement C1s

Clinical features

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