Phenotypes associated with the disease complement component 7 deficiency (OMIM:610102):
- Recurrent Neisserial infections (HP:0005430): Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). Evidence: PCS. Frequency: 9/9. (PMID:17407100)
- Decreased circulating complement C7 concentration (HP:0033058): Concentration of the complement component C7 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 9/9. (PMID:17407100)
- 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:9856499)
- Recurrent Neisseria meningitidis infection (HP:0005381): Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection. Evidence: PCS. (PMID:15831990)