complement component 6 deficiency
Findings
No curated finding names complement component 6 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.
Definition from the Mondo Disease Ontology (MONDO:0012908), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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 C6 concentrationHPOHP:0033059
- 3 of 3 reported patients
- Reduced circulating CH50 activityHPOHP:0025434
- 3 of 3 reported patients
- Recurrent Neisseria meningitidis infectionHPOHP:0005381
- 1 of 3 reported patients
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.
- C6HGNC:1339
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: complement component 6 deficiency
- Also called
- C6 classic complement early component deficiencyclassic complement early component deficiency caused by mutation in C6