atypical hemolytic-uremic syndrome with thrombomodulin anomaly
MONDO:0013044Mondo
Findings
No curated finding names atypical hemolytic-uremic syndrome with thrombomodulin 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
- 7 of 7 reported patients
- Decreased circulating complement C3 concentrationHPOHP:0005421
- 3 of 7 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.
- THBDHGNC:11784
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: atypical hemolytic-uremic syndrome with thrombomodulin anomaly
- Also called
- aHUS with thrombomodulin anomalyatypical HUS with thrombomodulin anomalyD-HUS with thrombomodulin anomalyhemolytic uremic syndrome, atypical, susceptibility to, type 6hemolytic-uremic syndrome without diarrhea with thrombomodulin anomalyhemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly