Atypical hemolytic-uremic syndrome with C3 anomaly: genes and variants
Atypical hemolytic-uremic syndrome with C3 anomaly is linked to 1 analyzed protein (C3). 2 DNA variants are known to cause it; 148 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 Atypical hemolytic-uremic syndrome with C3 anomaly
C3: Complement C3
It is cleaved during complement activation to generate C3a and C3b, which amplify inflammation, opsonize targets, and drive formation of downstream complement complexes. Deficiency causes severe susceptibility to bacterial infection, while dysregulated activation contributes to complement-mediated kidney and inflammatory diseases.
2 disease-causing and 148 uncertain variants in C3 are linked to Atypical hemolytic-uremic syndrome with C3 anomaly.
Known disease-causing variants in Atypical hemolytic-uremic syndrome with C3 anomaly
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| C3 R161W | 161 | Disease-causing (★★) | |
| C3 R592W | 592 | Disease-causing (★★) |
Same protein, different disease
- Atypical hemolytic-uremic syndrome is also caused by C3 variants; they fall mostly in different places as the Atypical hemolytic-uremic syndrome with C3 anomaly variants (5 disease-causing).
Diseases related to Atypical hemolytic-uremic syndrome with C3 anomaly
- Age related macular degeneration 9, also linked to C3
- Atypical hemolytic-uremic syndrome, also linked to C3
- Retinal disorder, also linked to C3
- C3 glomerulonephritis, also linked to C3
Frequently asked questions
Which genes are linked to Atypical hemolytic-uremic syndrome with C3 anomaly?
In CATVariant, Atypical hemolytic-uremic syndrome with C3 anomaly is linked to 1 analyzed protein: C3 (Complement C3).
How many genetic variants are linked to Atypical hemolytic-uremic syndrome with C3 anomaly?
165 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 148 are of uncertain significance or have conflicting reports.
Which uncertain variants in Atypical hemolytic-uremic syndrome with C3 anomaly 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