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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 24/12/2008
Symbol C1R
Location 12p13.31
Name complement component 1R deficiency
Other name(s)
  • lupus systemic-like syndrome
  • C1R deficiency
  • Corresponding gene C1R
    Main clinical features
  • arthralgia and recurrent rhinobronchitis from early childhood
  • syndrome combining discoid lupus erythematosus and nondeforming rheumatoid-like arthritis; mild nephritis
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)