Hypouricemia, renal, 1

Preferred Label : Hypouricemia, renal, 1;

Symbol : RHUC1;

CISMeF acronym : RHUC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dalmatian hypouricemia; Renal hypouricemia;

Description : Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier 22 (urate transporter), member 12 gene (SLC22A12, 607096.0001);

Laboratory abnormalities : Hypouricemia; Increased urinary urate; Increased fractional excretion of urate (greater than 50%);

Prefixed ID : #220150;

Details

Origin ID

220150;

UMLS CUI

C0473219;

Automatic exact mappings (from CISMeF team)
- Familial renal hypouricemia (disorder) [SNOMED CT concept]
- Hereditary renal hypouricemia [ORDO Disease]
- Renal hypouricemia [MeSH concept]
- renal hypouricemia [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hereditary renal hypouricemia [ORDO Disease]
Genes related to phenotype
- Solute carrier family 22 (urate transporter), member 12 [OMIM gene]
HPO term(s)
- Acute kidney injury [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypouricemia [HPO term]
- Increased urinary urate [HPO term]
- Renal tubular epithelial necrosis [HPO term]
- Uric acid nephrolithiasis [HPO term]
ORDO concept(s)
- Hereditary renal hypouricemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renal hypouricemia [MeSH concept]
- renal hypouricemia [MeSH Supplementary Concept]
- renal hypouricemia [Disease (Nov.)]
Validated automatic mappings to NTBT
- renal hypouricemia [Disease (Nov.)]

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