Hemolytic uremic syndrome, atypical, susceptibility to, 2

Preferred Label : Hemolytic uremic syndrome, atypical, susceptibility to, 2;

Symbol : AHUS2;

CISMeF acronym : AHUS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ahus, susceptibility to, 2;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the CD46 antigen gene (CD46, 120920.0001);

Laboratory abnormalities : Increased blood urea nitrogen (BUN); Increased creatinine; Normal or decreased serum C3;

Prefixed ID : #612922;

Details

Origin ID

612922;

UMLS CUI

C2752040;

Automatic exact mappings (from CISMeF team)
- Atypical hemolytic uremic syndrome with MCP/CD46 anomaly [ORDO Disease]
- CD46 wt Allele [NCIt concept]
Genes related to phenotype
- Cd46 antigen [OMIM gene]
HPO term(s)
- Acute kidney injury [HPO term]
- Anemia [HPO term]
- Anuria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Hematuria [HPO term]
- Hemolytic-uremic syndrome [HPO term]
- Hypertension [HPO term]
- Increased blood urea nitrogen [HPO term]
- Microangiopathic hemolytic anemia [HPO term]
- Proteinuria [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Atypical hemolytic uremic syndrome [ORDO Disease]
- Atypical hemolytic uremic syndrome with MCP/CD46 anomaly [ORDO Disease]
- Atypical hemolytic uremic syndrome with complement gene abnormality [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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