complement factor H deficiency
MONDO:0012350Mondo
Findings
No curated finding names complement factor H deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- CFHHGNC:4883
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: complement factor H deficiency
- Also called
- C3 glomerulopathy 1CFH deficiencyfactor H deficiencyimmunodeficiency with factor H anomaly