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GTR Home > Conditions/Phenotypes > Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis

Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis

Summary

Calcium oxalate nephrolithiasis-2 with or without nephrocalcinosis (CAON2) is an autosomal dominant disorder of renal function characterized by the recurrent formation of CaOx kidney stones. The age at onset is highly variable, ranging from childhood to adult. Most affected individuals have concurrent nephrocalcinosis. Renal function is generally preserved (Majmundar et al., 2023). See also CAON1 (167030). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CAON2, GPR80, GPR99, P2RY15, P2Y15, aKGR, OXGR1
    Summary: oxoglutarate receptor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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