atypical hemolytic-uremic syndrome with B factor anomaly
MONDO:0013042Mondo
Findings
No curated finding names atypical hemolytic-uremic syndrome with B factor anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hemolytic-uremic syndromeHPOHP:0005575
- 9 of 12 reported patients
- Acute kidney injuryHPOHP:0001919
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.
- CFBHGNC:1037
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · ClinGen · Autosomal dominant · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
Other names
6 names
Resolves to: atypical hemolytic-uremic syndrome with B factor anomaly
- Also called
- aHUS with B factor anomalyatypical HUS with B factor anomalyD-HUS with B factor anomalyhemolytic uremic syndrome, atypical, susceptibility to, type 4hemolytic-uremic syndrome without diarrhea with B factor anomalyhemolytic-uremic syndrome without diarrhoea with B factor anomaly