You are using an outdated browser. Please upgrade your browser to improve your experience.

complement component 2 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.
Uniprot Description A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections.
Disease Ontology Description A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.
Mondo Term and Equivalent IDs
MONDO:0009006:  complement component 2 deficiency
GARD:0001452: 
NCIT:C119992: 
UMLS:C3150275: