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GTR Home > Conditions/Phenotypes > Complement component C1s deficiency

Summary

Complement component C1s deficiency (C1SD) is an autosomal recessive disorder characterized by the presence of autoimmune diseases including a systemic lupus erythematosus-like disorder, Hashimoto thyroiditis, autoimmune hepatitis, and chronic glomerulonephritis (Inoue et al., 1998, Dragon-Durey et al., 2001). [from OMIM]

Available tests

18 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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