Hemolytic Uremic Syndrome, Atypical(aHUS)
An Autosomal dominant, Autosomal recessive mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Blood disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CFH/3075 | complement factor H | 1q31.3 | Chr1, NC_000001.11 (196652043..196747504) |
95462 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DGKE/8526 | diacylglycerol kinase epsilon | 17q22 | Chr17, NC_000017.11 (56834151..56869567) |
35417 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | C3AR1/719 | complement C3a receptor 1 | 12p13.31 | Chr12, NC_000012.12 (8056844..8066359, complement) |
9516 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |