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Article

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

American journal of human genetics - 1 Feb 2006

Lorenz-Depiereux Bettina, Benet-Pages Anna, Eckstein Gertrud, Tenenbaum-Rakover Yardena, Wagenstaller Janine, Tiosano Dov, Gershoni-Baruch Ruth, Albers Norbert, Lichtner Peter, Schnabel Dirk, Hochberg Ze'ev, Strom Tim M

Abstract excerpt

Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. It can be distinguished from other forms of hypophosphatemia by increased serum levels of 1,25-dihydroxyvitamin D...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16358215
DOI: 10.1086/499410
PMCID: PMC1380229

Genes

FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.PMID 16358215Read ↗

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