Phenotypes associated with the disease complement component 6 deficiency (OMIM:612446):
- Reduced circulating CH50 activity (HP:0025434): A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. Evidence: PCS. Frequency: 3/3. (PMID:32670577)
- 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: PCS. (PMID:32670577)
- Decreased circulating complement C6 concentration (HP:0033059): Concentration of the complement component C6 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:32670577)
- Recurrent Neisseria meningitidis infection (HP:0005381): Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection. Evidence: PCS. Frequency: 1/3. (PMID:32670577)