Hemolytic uremic syndrome, atypical, susceptibility to, 3

Preferred Label : Hemolytic uremic syndrome, atypical, susceptibility to, 3;

Symbol : AHUS3;

CISMeF acronym : AHUS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ahus, susceptibility to, 3;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the complement factor I gene (CFI, 217030.0004);

Laboratory abnormalities : Decreased or normal serum factor B; Increased creatinine; Increased blood urea nitrogen (BUN); Decreased or normal serum C3; Decreased or normal serum factor I;

Prefixed ID : #612923;

Details

Origin ID

612923;

UMLS CUI

C2752039;

Automatic exact mappings (from CISMeF team)
- Atypical hemolytic uremic syndrome with I factor anomaly [ORDO Disease]
Genes related to phenotype
- Complement factor I [OMIM gene]
HPO term(s)
- Acute kidney injury [HPO term]
- Anemia [HPO term]
- Anuria [HPO term]
- Autosomal dominant 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 I factor anomaly [ORDO Disease]
- Atypical hemolytic uremic syndrome with complement gene abnormality [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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