atypical hemolytic-uremic syndrome with C3 anomaly
MONDO:0013043Mondo
Findings
No curated finding names atypical hemolytic-uremic syndrome with C3 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
- Adult onset · Infantile onset · Juvenile 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
- 14 of 14 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 8 of 14 reported patients
- Hemolytic-uremic syndromeHPOHP:0005575
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.
- C3HGNC:1318
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
7 names
Resolves to: atypical hemolytic-uremic syndrome with C3 anomaly
- Also called
- aHUS with C3 anomalyatypical HUS with C3 anomalyD-HUS with C3 anomalyhemolytic uremic syndrome with DGKE deficiencyhemolytic uremic syndrome, atypical, susceptibility to, type 5hemolytic-uremic syndrome without diarrhea with C3 anomalyhemolytic-uremic syndrome without diarrhoea with C3 anomaly