Uridine-cytidineuria

Preferred Label : Uridine-cytidineuria;

Symbol : URCTU;

CISMeF acronym : URCTU;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 gene (SLC28A1, 606207.0001);

Laboratory abnormalities : Elevated uridine and cytidine in urine;

Prefixed ID : #618477;

Details

Origin ID

618477;

UMLS CUI

C4760647;

Genes related to phenotype
- Solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated uridine in urine [HPO term]
- Elevated urinary cytidine [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

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