Phenotypes associated with the disease complement component 5 deficiency (OMIM:609536):
- 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: 2/2. (PMID:23371790)
- Intractable diarrhea (HP:0002041). Evidence: TAS. (OMIM:609536)
- 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. (PMID:23743184)
- 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:7730648)
- Recurrent Neisseria meningitidis infection (HP:0005381): Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection. Evidence: PCS. Frequency: 2/2. (PMID:23371790)
- Generalized seborrheic dermatitis (HP:0007569): Seborrheic dermatitis that is not localized to any one particular region. Evidence: TAS. (OMIM:609536)
- Decreased circulating complement C5 concentration (HP:0033060): Concentration of the complement component C5 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:23371790)