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Article

Hereditary hypophosphatemias: new genes in the bone-kidney axis.

Nephrology (Carlton, Vic.) - 1 Aug 2007

Negri Armando L

Abstract excerpt

Hypophosphatemia due to isolated renal phosphate wasting is a genetically heterogeneous disease. Two new genes linked to two different forms of hereditary hypophosphatemias have recently been described. Autosomal recessive form of hypophosphatemic rickets was mapped to chromosome 4q21 and identified homozygous mutations in dentin matrix protein 1 (DMP1) gene, which encodes a non-collagenous bone matrix protein....

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Source

Identifiers

PMID: 17635744
DOI: 10.1111/j.1440-1797.2007.00824.x

Genes

DMP1
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hereditary hypophosphatemias: new genes in the bone-kidney axis.PMID 17635744Read ↗

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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.Semantic proximity Read ↗

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

Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.Semantic proximity Read ↗

Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.Semantic proximity Read ↗

Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.Semantic proximity Read ↗

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Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.Semantic proximity Read ↗

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