Entity Details
Details
| PrimaryID | 10878 |
| RefseqGene | NG_015993 |
| Symbol | CFHR3 |
| Name | complement factor H related 3 |
| Chromosome | 1 |
| Location | 1q31.3 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 1999-08-02 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 235400 | OMIM | Hemolytic uremic syndrome atypical 1 (AHUS1) | An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700). |
Interactions
5 interactions