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Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

2 Feb 2015

Abstract excerpt

Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in the Rare Kidney Stone Consortium PH registry and calculated prevalence using publicly available whole-exome data. PH1 (68.4% of families) was the...

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PMID: 25644115
DOI: 10.1681/asn.2014070698

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