atypical hemolytic-uremic syndrome with DGKE deficiency
MONDO:0018159Mondo
Findings
No curated finding names atypical hemolytic-uremic syndrome with DGKE 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.
- DGKEHGNC:2852
- Definitive · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: atypical hemolytic-uremic syndrome with DGKE deficiency
- Also called
- AHUS with DGKE deficiencyatypical HUS with DGKE deficiencyD-HUS with DGKE deficiencyhemolytic-uremic syndrome without diarrhea with DGKE deficiencyhemolytic-uremic syndrome without diarrhoea with DGKE deficiency