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Dalmatian hypouricemia

Synonyms
Renal Hypouricemia 1

Summary

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). Genetic Heterogeneity of Renal Hypouricemia See also RHUC2 (612076), which is caused by mutation in the SLC2A9 gene (606142). [from OMIM]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OAT4L, RST, UAT, URAT1, hURAT1, SLC22A12
    Summary: solute carrier family 22 member 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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