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GTR Home > Conditions/Phenotypes > Hypersulfaturia

Hypersulfaturia

Summary

Hypersulfaturia (HYSULF) is an autosomal recessive condition characterized by increased urinary sulfate excretion due to defective renal sulfate reabsorption. The single reported patient with this condition presented with adult-onset perichondritis of the costovertebral joints (Pfau et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CAON, CAON1, EDM4, HYSULF, SAT-1, SAT1, SLC26A1
    Summary: solute carrier family 26 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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