atypical hemolytic-uremic syndrome
Findings
No curated finding names atypical hemolytic-uremic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0016244), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Abnormal circulating lactate dehydrogenase concentrationHPOHP:0045040
- Very frequent (80% to 99% of cases)
- Abnormality of blood and blood-forming tissuesHPOHP:0001871
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Acute kidney injuryHPOHP:0001919
- Very frequent (80% to 99% of cases)
- HematuriaHPOHP:0000790
- Very frequent (80% to 99% of cases)
- Microangiopathic hemolytic anemiaHPOHP:0001937
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Abnormality of complement systemHPOHP:0005339
- Frequent (30% to 79% of cases)
- Decreased circulating complement factor B concentrationHPOHP:0005416
- Frequent (30% to 79% of cases)
- Decreased circulating complement factor I concentrationHPOHP:0005356
- Frequent (30% to 79% of cases)
- Decreased level of thrombomodulinHPOHP:0040229
- Frequent (30% to 79% of cases)
Show the remaining 1
- Reduced circulating complement concentrationHPOHP:0004431
- Frequent (30% to 79% of cases)
Genes
5 genes
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.
- CD46HGNC:6953
- Definitive · ClinGen · Semidominant · 2024
- CFHHGNC:4883
- Definitive · ClinGen · Semidominant · 2023
- CFIHGNC:5394
- Definitive · ClinGen · Autosomal dominant · 2023
- VTNHGNC:12724
- Limited · PanelApp Australia · Autosomal dominant · 2025
- THBDHGNC:11784
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
Where it sits
Other names
7 names
Resolves to: atypical hemolytic-uremic syndrome
- Also called
- aHUSAtypical Hemolytic Uremic Syndromeatypical HUSD-HUShemolytic-uremic syndrome without diarrheahemolytic-uremic syndrome without diarrhoeanon-diarrhea-associated hemolytic uremic syndrome