" /> Nephrolithiasis/osteoporosis, hypophosphatemic, 2 - CISMeF





Preferred Label : Nephrolithiasis/osteoporosis, hypophosphatemic, 2;

Symbol : NPHLOP2;

CISMeF acronym : NPHLOP2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 9, isoform A3, regulatory factor 1 gene (SLC9A3R1, 604990.0001);

Laboratory abnormalities : Hypophosphatemia; Hyperphosphaturia; Increased serum 1,25-dihydroxyvitamin D;

Prefixed ID : #612287;

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29/07/2025


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