Hemolytic uremic syndrome, atypical, susceptibility to, 6

Preferred Label : Hemolytic uremic syndrome, atypical, susceptibility to, 6;

Symbol : AHUS6;

CISMeF acronym : AHUS6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ahus, susceptibility to, 6;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the thrombomodulin gene (THBD, 188040.0005);

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

Prefixed ID : #612926;

Details

Origin ID

612926;

UMLS CUI

C2752036;

Automatic exact mappings (from CISMeF team)
- Atypical hemolytic uremic syndrome with thrombomodulin anomaly [ORDO Disease]
- THBD wt Allele [NCIt concept]
Genes related to phenotype
- Thrombomodulin [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 complement gene abnormality [ORDO Disease]
- Atypical hemolytic uremic syndrome with thrombomodulin anomaly [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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