atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
MONDO:0013040Mondo
Findings
No curated finding names atypical hemolytic-uremic syndrome with MCP/CD46 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
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
4 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.
- Acute kidney injuryHPOHP:0001919
- 2 of 2 reported patients
- Hemolytic-uremic syndromeHPOHP:0005575
- 2 of 2 reported patients
- Microangiopathic hemolytic anemiaHPOHP:0001937
- 2 of 2 reported patients
- Decreased circulating complement C3 concentrationHPOHP:0005421
- 1 of 2 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.
- CD46HGNC:6953
- Definitive · Ambry Genetics · Semidominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
Where it sits
Other names
6 names
Resolves to: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- Also called
- aHUS with MCP/CD46 anomalyatypical HUS with MCP/CD46 anomalyD-HUS with MCP/CD46 anomalyhemolytic uremic syndrome, atypical, susceptibility to, type 2hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomalyhemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly