atypical hemolytic-uremic syndrome with I factor anomaly
MONDO:0013041Mondo
Findings
No curated finding names atypical hemolytic-uremic syndrome with I factor anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
3 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.
- Decreased circulating complement C3 concentrationHPOHP:0005421
- 2 of 3 reported patients
- Hemolytic-uremic syndromeHPOHP:0005575
- 3 of 5 reported patients
- Microangiopathic hemolytic anemiaHPOHP:0001937
- 3 of 5 reported patients
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.
- CFIHGNC:5394
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · Ambry Genetics · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: atypical hemolytic-uremic syndrome with I factor anomaly
- Also called
- aHUS with I factor anomalyatypical HUS with I factor anomalyD-HUS with I factor anomalyhemolytic uremic syndrome, atypical, susceptibility to, type 3hemolytic-uremic syndrome without diarrhea with I factor anomalyhemolytic-uremic syndrome without diarrhoea with I factor anomaly