Phenotypes associated with the disease type I complement component 8 deficiency (OMIM:613790):
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. (OMIM:613790)
- Decreased circulating complement C8 concentration (HP:0004434): Concentration of the complement component C8 in the blood circulation below the lower limit of normal. Evidence: TAS. (OMIM:613790)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:613790)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. (OMIM:613790)