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GTR Home > Conditions/Phenotypes > C1Q deficiency 2

Summary

C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007). For a discussion of genetic heterogeneity of C1q deficiency, see 613652. [from OMIM]

Available tests

1 test is in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: C1QD2, C1QB
    Summary: complement C1q B chain

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