complement factor I deficiency
MONDO:0012594Mondo
Findings
No curated finding names complement factor I deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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 factor I concentrationHPOHP:0005356
- 3 of 3 reported patients
- Decreased circulating complement C3 concentrationHPOHP:0005421
- 2 of 3 reported patients
- Decreased circulating complement factor B concentrationHPOHP:0005416
- 2 of 3 reported patients
- Recurrent Neisseria meningitidis infectionHPOHP:0005381
- 2 of 3 reported patients
- Recurrent meningitisHPOHP:0006946
- 1 of 3 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 1 of 3 reported patients
- Recurrent sinusitisHPOHP:0011108
- 1 of 3 reported patients
- Septic arthritisHPOHP:0003095
- 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.
- CFIHGNC:5394
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: complement factor I deficiency
- Also called
- C3 inactivator deficiencycomplement component 3 inactivator deficiency