Factor H deficiency: genes and variants
Factor H deficiency is linked to 1 analyzed protein (CFH). 4 DNA variants are known to cause it; 15 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Factor H deficiency
CFH: Complement factor H
It restrains the alternative complement pathway on host surfaces and in plasma, protecting tissues from uncontrolled complement amplification. Pathogenic variants or risk alleles are associated with atypical hemolytic uremic syndrome, C3 glomerulopathy, and age-related macular degeneration.
4 disease-causing and 15 uncertain variants in CFH are linked to Factor H deficiency.
Known disease-causing variants in Factor H deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CFH W1183L | 1183 | Sushi 20 | Disease-causing (★★) |
| CFH S1191L | 1191 | Sushi 20 | Disease-causing (★★) |
| CFH C431S | 431 | Sushi 7 | Disease-causing (★) |
| CFH R127L | 127 | Sushi 2 | Disease-causing (★) |
Same protein, different disease
- Atypical hemolytic-uremic syndrome is also caused by CFH variants; they fall mostly in different places as the Factor H deficiency variants (12 disease-causing).
Diseases related to Factor H deficiency
- Age related macular degeneration 9, also linked to CFH
- Atypical hemolytic-uremic syndrome, also linked to CFH
- Retinal disorder, also linked to CFH
- Hemolytic uremic syndrome, atypical, susceptibility to, 1, also linked to CFH
Frequently asked questions
Which genes are linked to Factor H deficiency?
In CATVariant, Factor H deficiency is linked to 1 analyzed protein: CFH (Complement factor H).
How many genetic variants are linked to Factor H deficiency?
26 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Factor H deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center