complement component 5 deficiency
Findings
No curated finding names complement component 5 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.
Definition from the Mondo Disease Ontology (MONDO:0012295), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating complement C5 concentrationHPOHP:0033060
- 2 of 2 reported patients
- Recurrent Neisseria meningitidis infectionHPOHP:0005381
- 2 of 2 reported patients
- Reduced circulating CH50 activityHPOHP:0025434
- 2 of 2 reported patients
- Recurrent Neisserial infectionsHPOHP:0005430
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- C5HGNC:1331
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: complement component 5 deficiency
- Also called
- C5 complement deficiencyC5 deficiencycomplement deficiency caused by mutation in C5